18 September 2014 print
EU Policy News
Nat Pol News
ELS News
Orphanet News
New Syndromes
New Genes
Research in Action
Patient Man & Therapy
Orphan Drugs
Courses & Education
What's on?
Media, Press & Publications
Subscribe / Unsubscribe
Search the Orphanews archives :


The FDA issues a strategic plan to accelerate the development of therapies for children with rare diseases

In response to growing clinical, technical and economic challenges to bring to market drugs and diagnostic products for paediatric rare disease (PRD) patients, the FDA conducted a public workshop in January 2014 to discuss issues with academics, researchers, patients, advocacy groups, industry and regulators. Based on their contributions, the US Food and Drug Administration (FDA) published a strategic plan last July, Accelerating the Development of Therapies for Pediatric Rare Diseases, proposing four objectives to improve children’s access to orphan drugs and devices.

The first objective is to improve basic and translational science on paediatric rare diseases. Regulators call for a better understanding of rare disease natural history, i.e. disease evolution if left untreated. Progression of rare diseases is often poorly understood due to small numbers of cases. Knowledge gaps are particularly marked in paediatric groups, in which diseases evolve in an age-dependent mode. The FDA proposes applying modelling techniques to predict orphan product performance in different age and patient groups.

The second objective is to initiate and reinforce interaction, partnerships and collaboration between stakeholders (researchers, industry, regulators, patients, advocates and physicians). Inter- and intra-regulatory agency communication contributes towards harmonising standards for rare disease classification and therapeutic development. The FDA and the European Medicines Agency (EMA), for instance, hold regular discussions to coordinate international research and clinical protocols. The FDA recommends strengthening international collaborations to pool resources and accelerate product development plans for rare diseases.

The third objective is to further develop standards and methods to monitor the safety and efficacy of orphan products. This is particularly relevant to long term treatments for patients with chronic rare diseases. The FDA recommends guidance documents and investigator training to improve product development efficiency and age-specific product safety, suitability and effectiveness under the Best Pharmaceuticals for Children’s Act (BPCA) of 2002 and the Pediatric Research Equity Act (PREA) of 2003. Dose-dependent safety assessments are essential to treat paediatric rare disease patients effectively. The FDA recommends using biomarkers, for instance, to help find appropriate doses and measure dose responses.

The fourth objective is to enrich the FDA’s PRD evaluation process by involving patients, patient advocates and caregivers in clinical trial designs early on. Criteria such as patient benefit-risk preferences, clinical outcome measures and feedback on quality of life should constitute part of the drug assessment process more systematically and appropriately. The FDA recommends greater flexibility and adaptability in orphan product evaluation processes, building on existing evidence, to overcome the limiting effect of small patient numbers in rare disease clinical trials. This objective builds on the agency's Rare Pediatric Disease Priority Review Voucher (PRV) programme of 2012, to further accelerate the development of paediatric orphan products.

While orphan medicinal product development is challenging at the best of times, developing orphan products for children with rare diseases is all the more complex due to age-related factors and ethical considerations. Information and clinical evidence on medical product safety and efficacy in children with rare diseases is generally inadequate as a result of small patient numbers, age-specific physiology and responses to treatment. The FDA’s recommendations to increase collaboration and transparency aim to draw attention to the need for additional and improved paediatric rare disease care.

Read the FDA workshop report and strategic plan


Optimising research on rare diseases through the RD-Connect platform

With today’s progress in gathering rare disease information into patient registries, biobanks and other clinical databases comes the challenge of connecting these data sources to conduct rational genetic, diagnostic and therapeutic research. In an article published in the Journal of General Internal Medicine, Thompson et al. describe the role of RD-Connect as an EU-funded platform to integrate and cross-link data sources in a comprehensive yet secure mode.

Since its launch in January 2013, in association with partner projects Neuromics, EURenOMICS and SUPPORT-IRDiRC, RD-Connect has begun identifying rare disease biobanks, developing tools to merge and search data, and developing regulatory and ethical standards to optimise data sharing and ensure patient confidentiality. By drawing on and incorporating resources from twenty-seven associated institutions, RD-Connect will contribute towards IRDiRC’s goals to develop diagnostic tools and new therapies for rare diseases.

Read the open access article
Read IRDiRC in the News July 17, 2014


EU Policy News

Policy recommendations to manage increasing prevalence of rare diseases following population migration: the case of haemoglobinopathies
Increased migration and mobility from the Mediterranean, Africa and Asia to Europe, America and Australia have contributed towards spreading certain endemic diseases across the latter continents, where such conditions are rare and inadequately managed. In an article published in Orphanet Journal of Rare Diseases, Martinez et al. discuss how haemoglobinopathies, such as thalassaemia, are becoming global public health issues, with a focus on European countries. The authors emphasise the burden of these diseases, if left untreated and following certain treatments such as transfusion therapy.

While medical advances have resulted in the ability to diagnose and treat haemoglobinopathies adequately, epidemiological data are still scarce and disease management policy is still all but absent in many European countries. The study of ten EU member states (Belgium, Cyprus, France, Germany, Greece, Italy, the Netherlands and the UK) revealed that health policies addressing haemoglobinopathies are heterogeneous from one EU country to another. Only countries in which the diseases were once endemic, such as Greece, Cyprus and Italy, and those with long term migration traditions, such as France and the UK, have adopted appropriate standards of care and guidelines on haemoglobinopathy management.

The authors propose ten policy recommendations to improve European management of haemoglobinopathies. These include, among others, implementing data collection and analysis tools, such as haemoglobinopathy management programmes in national rare disease plans, establishing centre of reference, funding research, increasing awareness, education and training, and developing guidelines and standards of care.

Read the open access article


National & International Policy Developments

Canada continues to structure its clinical research to meet the needs of its rare disease population
Over the past three years, Canada has multiplied efforts to develop, foster and network its activities in the field of rare diseases and orphan drugs. In October 2012, Canada’s public health department, Health Canada, began developing and implementing an Orphan Drug Framework in response to Canada’s Senate Committee on Social Affairs, Science and Technology recommendations. In an article published in the Journal of Population Therapeutics and Clinical Pharmacology, MacLeod et al. recommend that academia conduct translational research in accordance with the framework requirements.

The authors fear, however, that human resources are still inadequate to build a comprehensive rare disease clinical research programme. Academic centres still need to develop expertise required for rare diseases clinical trials, early patient recruitment and post-approval drug evaluation. MacLeod et al. highlight the need for health technology assessment better adapted to orphan drugs. Housed by the Canadian Institutes of Health Research (CIHR), the Drug Safety and Effectiveness Network (DSEN) studies post-market drug safety and effectiveness and provides evidence to decision makers, while the Strategy for Patient Oriented Research (SPOR) aims to improve patient access to targeted treatments.

CIHR’s partnerships with IRDiRC, E-Rare 2 initiative and Care for Rare among other projects, further illustrate how Canada is developing the capacity to respond to rare disease challenges. Canada’s recently announced pilot programme to incorporate rare disease patient input into drug submission review processes will also contribute to collaborative clinical research in the field of rare diseases. The authors believe these ongoing initiatives among academic centres and between institutions and drug manufacturers will translate into improved healthcare for Canada’s rare disease population.

Read the open access article

Australian ministry of health calling for public feedback in preparation of its Life Saving Drugs Programme Review
On 9th April this year, Australian Health Minister, Peter Dutton, announced the government’s next Life Saving Drugs Programme (LSDP) Review. Australia’s Health Department is now inviting organisations and individuals to submit, until 10th November 2014, their feedback on safety, efficacy and benefits of products for rare diseases currently included in the Life Saving Drugs Programme (LSDP). The Review aims to ensure Australians with rare disorders continue to have access to safe and affordable treatments. Submissions will be reviewed to update clinical efficacy and safety data and incorporate new evidence on treatments currently subsidised by the programme. The Review will also assess emerging therapies and diseases, which could benefit from the LSDP. The health department aims to establish a framework to collect such data on rare diseases throughout Australia.

Read the call for submissions

The New Zealand Organisation for Rare Disorders’ (NZORD) call for an action plan on rare disorders receives political support
Last month, the New Zealand Organisation for Rare Disorders (NZORD) announced the results of a survey conducted among New Zealand’s political parties. All are in favour of policy development and a national plan to address rare diseases. In response to these results, the government has agreed to address the subject shortly, while not revealing the view it will adopt.

New Zealand’s pharmaceutical management agency PHARMAC set up a NZD 5 millon annual fund earlier this year to subsidise high cost treatments for rare diseases. NZORD recognised PHARMAC’s efforts to address unaffordable medicines but claimed the allocated funds to be insufficient and far from the NZD 20 to 25 million a year needed to treat patients with rare diseases. NZORD is hopeful the renewed political interest will improve the chances that New Zealand’s rare disease patients’ interests will be given greater priority on the health agenda.

Read NZORD’s press release

Guidance Documents and Recommendations
Ehlers-Danlos syndrome: recommendations for anesthesia and perioperative management
Consult the Pubmed abstract
To read more about "Ehlers-Danlos syndrome"

Orphanet J Rare Dis. ; 9(1):109 ; July 2014
Pulmonary and systemic sarcoidosis: current best practice in the management
Consult the Pubmed abstract
To read more about "Sarcoidosis"

Ther Adv Respir Dis. ; 8(4):111-132 ; July 2014

Bioinformatics, Registries and Data Management

BBMRI-ERIC: the European Research Infrastructure Consortium to harmonise biobanking and boost research across Europe

European Research Infrastructure Consortia (ERICs) were introduced under EU law in 2009 as legal frameworks to foster research between member states in efforts to become more competitive on a global scale. The Biobanking and BioMolecular resources Research Infrastructure-European Research Infrastructure Consortium (BBMRI-ERIC) was awarded legal status in December 2013, allowing it to pool resources into a pan-European structure to share biological collections and conduct collaborative research.

As explained by Reichel et al., in a letter to the European Journal of Human Genetics, Member States forming an ERIC are required to implement EU law governing ERICs. Within this legal framework, ERIC members must adopt the host country’s legislation concerning administration and certain operations. Each ERIC member must further respect its national laws to conduct research and develop biobanking activities. Despite this complex legal framework, the authors believe ERICs will promote the development of common standards for long term research across Europe. BBMRI-ERIC should eventually gain sufficient momentum to influence further biobanking-related policy decisions.

Read the open access letter

Facial Dysmorphology Novel Analysis’ (FDNA®) technology incorporates Orphanet into its Face2Gene application

The Facial Dysmorphology Novel Analysis (FDNA®) technology, Face2Gene, has incorporated Orphanet and the London Medical Databases (LMD) as reference sources for clinicians and researchers to study information on rare diseases. Based on case reports, clinical studies and genetic expertise, FDNA developed Face2Gene as a freely available mobile application offering comprehensive and up-to-date genetic references to improve and facilitate the detection of rare or difficult to diagnose genetic syndromes.

Face2Gene provides the genetics healthcare community with information on facial dysmorphic features and patterns of human malformations recognisable in facial photographs. The tool enables genetics professionals to take a photograph of the patient’s face, analyse it by looking up syndromes in references, such as Orphanet and LMD, and constitute a differential diagnosis. FDNA will continue to improve its technology over time, referencing and synchronising comprehensive phenotype databases. Incorporating Orphanet and LMD into Face2Gene will help improve the diagnosis, care and treatment of patients with rare diseases.

Watch the Face2Gene tutorial in the following video:

Europe-wide registries to improve awareness, research and management of rare diseases: the EURO-WABB and rare diabetes registry

In efforts to improve rare disease awareness, diagnosis and management, registries are frequently set up to collect patient records from different sources and countries. In an article published in BMC Pediatrics last year, Farmer et al. describe the objectives of the EURO-WABB registry, launched in 2011 to support research, diagnosis and treatment for Wolfram, Alström and Bardet-Biedl syndromes, as well as other rare diabetes syndromes. Difficult to diagnose, these complex and chronic disorders have debilitating effects on patients, including deafness, blindness and diabetes.

European physicians, researchers and patient associations have been gathering patient data into this multi-centre, Europe-wide registry for the past three years. Based on around 300 collected patient datasets, the EURO-WABB team intends to correlate compiled data with other registries and previously established shared symptom definitions. The aim of this collaborative registry is to better understand disease natural history, increase clinical research, develop new treatments, elaborate disease management guidelines and education material for healthcare professionals, and improve patient access to early genetic diagnosis.

Read the open access article

The Rare Cancer Network: purpose, achievements and goals
Launched in the early 1990’s, the Rare Cancer Network (RCN) gathers, analyses and publishes data on rare cancers and rare forms of common cancers. In two reports from the network’s first international symposium, published in Rare Tumors, founding partners Mirimanoff and Ozsahin describe the RCN’s achievements, ongoing studies and future collaborations.

With contributions from its 130 member investigators, the network has completed 54 studies, published 46 peer-reviewed articles and launched 14 new projects. In March this year, the RCN held its first international symposium during which it presented some of these studies. The RCN aims to gain better knowledge and understanding of rare cancers in efforts to improve therapeutic options and disease outcomes.

Read the open access articles on the history of the RCN
and ongoing studies

NIH’s Rare Diseases Clinical Research Network contributes towards improving research and orphan medicinal products
In order to enhance the quantity and quality of research on rare diseases, the NIH’s Office of Rare Diseases Research (ORDR) established the Rare Diseases Clinical Research Network (RDCRN) in 2003. The network is composed of 17 consortia, a Data Management and Coordinating Centre (DMCC) and over 90 patient advocacy groups. In an article published in the Journal of General Internal Medicine, Krischer et al. describe the network’s achievements and contribution to clinical research on rare diseases.

The RDCRN trains investigators conducting longitudinal and clinical studies on groups of rare diseases, publishes peer-reviewed articles and books, and gives conference presentations. Through its DMCC, the network operates as a platform to design clinical studies on rare diseases and collect, manage and improve access to clinical data. Besides also providing information concerning the consortia, the 200 or more studied diseases and ongoing clinical studies, the DMCC manages the RDCRN patient Contact Registry’s (CR) 14,776 subscriptions.

During the RDCRN’s first five years, ten of its consortia initiated 40 studies. The following five years saw the launch of 88 studies by 17 consortia. A number of RDCRN projects have incorporated patient-reported outcomes and have resulted in demonstrated efficacy of new treatments and diagnostics for rare diseases. The authors suggest the RDCRN has contributed significantly to accelerate research on rare diseases and the network’s use of technologies should continue evolving to maintain that momentum.

Read the open access article

Five ‘A’s for young cancer patients: proposed criteria to increase participation of teenagers and young adults in clinical trials
Despite the significant, yet under-estimated, burden of cancers in teenagers and young adults, this age group is widely under-represented in cancer clinical trials. In an article published in The Lancet Oncology, Fern et al. note that, while childhood cancers have gained considerable attention over the past decades, resulting in survival rates above 80%, survival gains in the 13 to 24 year-old bracket have not followed. In response to the UK’s NICE guidance on improving outcomes in young people with cancer, the NHS stepped up the Cancer Research National Network’s efforts to enrol patients in clinical studies and the National Cancer Research Institute introduced the Teenage and Young Adult Clinical Studies Development Group to increase young people’s participation in trials.

Fern et al. analysed trends in paediatric cancer trial enrolment in the UK between 2005 and 2011. They observed an increase in teenager and young adult trial participation, which they attribute to five criteria: available, accessible, aware, appropriate and acceptable. Firstly, clinical trials become available through increased commercial incentives and preclinical research. Secondly, young adults gain access to trials if specialist centres collaborate across conventional medical age barriers. Thirdly, patients, healthcare professionals, funders and policy makers must be made aware of clinical trials. Fourthly, different cancers call for appropriate age eligibility criteria. And finally, involving young adults in research design would improve trial acceptability. The authors recommend applying these ‘five As’ to increase young adult patient recruitment in clinical trials.

Consult the PubMed abstract

Patient-reported outcomes should be included in clinical trials for rare diseases
Identifying sets of symptoms common to all patients affected by one or several rare diseases has proven useful to clinical researchers and drug developers in order to address patient needs and substantiate drug labelling. In an article published in the Journal of General Internal Medicine, Basch and Bennett support the use of patient-reported outcomes (PRO) to measure patient reactions and progress throughout clinical trials. While regulatory agencies, standards organisations and international societies have issued a number of guidance documents on PROs, many trials on rare diseases still do not include PROs in clinical data. The authors suggest that PROs be conducted by experienced investigators and tailored to patient populations and specific symptoms, such as the NIH’s Patient Reported Outcomes Measurement Information System (PROMIS).

Read the open access article

Screening and Testing

The Pompe Registry sheds light on improving Pompe disease diagnosis
Pompe disease is a neuromuscular disorder caused by lysosomal enzyme deficiency, resulting in glycogen accumulation in skeletal, cardiac and smooth muscle tissues, and death through organ and system failure. In its most severe form, symptoms manifest within the first months following birth, and death usually ensues before two years. Late-onset Pompe disease occurs after 12-months of age or in late adulthood. In an article published in Molecular Genetics and Metabolism, Kishnani et al. review methods to diagnose Pompe disease, based on reports of the Pompe Registry’s 1,059 patients.

Enzyme activity assays remain the preferred method to diagnose Pompe disease, with a growing use of blood-based assays as opposed to long and invasive tissue-based methods and muscle biopsies. While the authors also report an increased use of DNA analysis methods, they do not recommend these techniques, as the exact gene mutation locus for Pompe disease varies. Pompe disease specific staining techniques, such as the periodic acid-Schiff to diagnose vacuolated muscle fibres present in infants, show promise as they are quick, inexpensive and relatively non-invasive. The authors suggest the increasing use of blood-based assays, alone or combined with other methods, will contribute to earlier diagnosis of Pompe disease, resulting in more timely patient management such as early enzyme replacement therapy.

Consult the PubMed abstract

Late-onset Pompe disease in Finland is rarer than estimated
Only one patient has been diagnosed with late-onset Pompe disease in Finland in the past ten years. The authors of an article, published in Neuromuscular Disorders, screened 108 Finnish myopathy patients in order to identify any undiagnosed Pompe disease cases. Applying the widely accepted blood-based enzyme assay, Palmio et al. discovered no new cases among Finland’s myopathy patients. They conclude that the incidence of Pompe disease in Finland is far lower than estimated and inferior to frequency in other European countries. Palmio et al. suggest therefore that commonly found GAA mutations in Pompe disease in central Europe are very rare in the Finnish population. They believe Finland’s genetically isolated situation explains the low frequency of certain rare disease genetic mutations, including those for Friedreich ataxia, cystic fibrosis and galactosaemia among others.

Consult the PubMed abstract


Ethical, Legal & Social Issues

Measuring the economic impact of chronic rare diseases: the Marfan syndrome example
In an article published in Orphanet Journal of Rare Diseases, Achelrod et al. study the economic impact of treating Marfan patients in Germany, under the country’s second largest—private non-profit— sickness fund, which covered 9% of the population in 2008. The authors believe such research on use of healthcare resources and disease burden could improve health policy planning. Marfan syndrome affects multiple organs, causing skeletal and ocular malformations, as well as skin, neurological, lung and cardiovascular disorders. Progress in early treatment of Marfan syndrome has contributed towards doubling patient life expectancy over the past thirty years. Nevertheless, as symptoms worsen with age, life-long treatments become necessary, requiring substantial healthcare resources.

Investigators measured three principal healthcare costs associated with 892 Marfan syndrome patients and 892 control subjects: direct medical costs (hospitalisation, treatment, medical equipment and medical services), direct non-medical costs (administration, sick-leave, transport and homecare) and indirect costs (absence from work). The results from the study indicate that Marfan patients cost the sickness fund €2,496 more, annually, than a control subject. A patient’s overall cost, from a societal perspective (including medical, non-medical and indirect costs), represents €15,728 more, annually, than a control individual’s cost.

The study could not include all costs, such as the expense of genetic testing and intangible indirect costs. The authors indicate, nevertheless, that overall Marfan syndrome patient costs vary considerably depending on disease severity and age. They suggest that closer examination of the nature of costs could contribute towards allocating resources more efficiently in efforts to limit overall disease burden. Achelrod et al. further believe that increasing knowledge on rare disease mechanisms should contribute to early disease management and, subsequently, improved healthcare resource allocation.

Read the open access article

The need for new treatment strategies to manage chronic rare diseases and alleviate their socioeconomic burden: the case of hereditary angioedema
Patients affected by the life-threatening rare disease hereditary angioedema (HAE) suffer from swelling attacks in the gastrointestinal tract, extremities, face, larynx and urogenitals. In an article published in Orphanet Journal of Rare Diseases, Aygören-Pürsün et al. report findings of a study assessing HAE impact on patient quality of life, professional or school work and medical resource utilisation. The Hereditary Angioedema Burden of Illness Study in Europe (HAE-BOIS-Europe) was conducted in 2012 to assess the economic burden of HAE in Spain, Germany and Denmark. The authors indicate that results reflect those of a 2006-2007 US survey demonstrating that HAE does reduce patients’ capacity for work and studies significantly, and increases use of healthcare resources.

Findings from HAE-BOIS-Europe suggest that the greater the disease severity and attacks, the more likely patients are of resorting to emergency hospitalisation. Furthermore, patients and their caregivers report missing up to 28 days a year of work or study, in proportion with the frequency and severity of attacks. Patients stated that absenteeism took a significant toll on their careers and education. The authors recommend that different treatment strategies be explored in order to avoid such knock-on societal effects of HAE attacks for patients, their families and caregivers.

Read the open access article

New definition and estimation of rare cancer cases in Japan reveal a higher burden than previously evaluated
No formal definition or categorisation of rare cancers has been established in Japan. In an article published in Cancer Epidemiology, Tamaki et al. attempt to evaluate, for the first time, the incidence of rare cancers in the Japanese population. Based on the consensus definition of rare cancers in Europe, established by the RARECARE project, the authors applied the same definitions and annual incidence threshold (fewer cases than 6 per 100,000) as in Europe to determine rare cancer occurrence in Japan.

The authors found that incidence of rare cancers in Japan is lower than in Europe and represents 15% of all cancers in Japan. Among rare cancers, 81% are very rare, affecting fewer than 0.5 in 100,000 individuals. As rare cancers affect under 35 year olds predominantly, the overall incidence of rare cancers appears lower in Japan than it is in Europe, due partly to a smaller young Japanese population. Nevertheless, the authors maintain that rare cancers still represent an underestimated burden. Based on their findings, Tamaki et al. suggest that 94,800 new cases of rare cancers could be diagnosed in Japan annually.

Read the open access article


Orphanet News

New list of medicinal products for rare diseases in Europe, July 2014

Read the Orphanet report

New list of rare diseases and synonyms, July 2014

Read the Orphanet report


New Syndromes

Early-onset multi-organ autoimmune disease including type 1 diabetes caused by activating germline mutations in STAT3
The authors reported a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes.
Consult the Pubmed abstract

Nat Genet. ; 46(8):812-4 ; August 2014
Vascular and pulmonary syndrome with early-onset systemic inflammation associated with gain-of-function mutations in TMEM173
The authors analyzed the DNA of six patients with early-onset systemic inflammation, cutaneous vasculopathy, and pulmonary inflammation. They identified gain-of-function mutations in TMEM173 encoding the stimulator of interferon genes (STING), and called the syndrome STING-associated vasculopathy with onset in infancy (SAVI).
Consult the Pubmed abstract

N Engl J Med. ; 371(6):507-18 ; August 2014
New subtype of oral-facial-digital syndrome with severe microcephaly and cerebral malformations due to mutations in C2CD3
The authors uncovered a new subtype of oral-facial-digital syndrome with severe microcephaly and cerebral malformations, and identified distinct mutations in two affected families in the conserved gene C2CD3.
Consult the Pubmed abstract

Nat Genet. ; 46(8)905-11 ; August 2014
Unusual skeletal dysplasia with dysmorphic facial features, epilepsy and developmental delay in a consanguineous Arab family
The authors reported on a consanguineous Arab family in which three sibs had an unusual skeletal dysplasia characterised by anterior defects of the spine leading to severe lumbar kyphosis and marked brachydactyly with cone epiphyses. They proposed to name the disorder “cono-spondylar dysplasia”. The clinical phenotype also included dysmorphic facial features, epilepsy, and developmental delay.
Consult the Pubmed abstract

Am J Med Genet A. ; 164(9):2147-52 ; September 2014

New Genes

Autosomal dominant spinocerebellar ataxia caused by ELOVL5 and CCDC88C missense mutations
Consult the Pubmed abstracts
To read more about "Autosomal dominant cerebellar ataxia"

Am J Hum Genet. ; 95(2):209-17 ; August 2014
J Med Genet. ; 51(9):590-5 ; September 2014
Centronuclear myopathy with dilated cardiomyopathy linked to SPEG mutations
Consult the Pubmed abstract
To read more about "Centronuclear myopathy"

Am J Hum Genet. ; 95(2):218-26 ; August 2014
Cerebellar dysplasia and cysts with and without retinal dystrophy associated to mutations in LAMA1
Consult the Pubmed abstract
To read more about "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome"

Am J Hum Genet. ; 95(2):227-34 ; August 2014
Acromelic frontonasal dysplasia associated with de novo ZSWIM6 mutation
Consult the Pubmed abstract
To read more about "Acromelic frontonasal dysplasia"

Am J Hum Genet. ; 95(2):235-40 ; August 2014
Primrose syndrome caused by missense mutations in ZBTB20
Consult the Pubmed abstract
To read more about "Intellectual disability - cataracts - calcified pinnae - myopathy"

Nat Genet. ; 46(8):815-7 ; August 2014
Dienoyl-CoA reductase deficiency with hyperlysinemia is caused by mitochondrial NADP(H) deficiency due to a causal mutation in NADK2
Consult the Pubmed abstract
Hum Mol Genet. ; 23(18):5009-16 ; September 2014
Noonan syndrome is associated with loss-of-function mutations in RASA2
Consult the Pubmed abstract
To read more about "Noonan syndrome"

Proc Natl Acad Sci U S A. ; 111(31):11473-8 ; August 2014
Cerebro-costo-mandibular syndrome caused by SNRPB mutations
Consult the Pubmed abstract
To read more about "Cerebro-costo-mandibular syndrome"

Nat Commun. ; 5:4483 ; July 2014
Cowden syndrome: RASAL1 germline mutation identified in two patients with follicular thyroid cancer and without PTEN mutation
Consult the Pubmed abstract
To read more about "Cowden syndrome"

J Clin Endocrinol Metab. ; 99(7):E1316-21 ; July 2014
Familial trichomegaly (extreme eyelash growth) linked to mutations in FGF5 in two families from Pakistan
Consult the Pubmed abstract
Proc Natl Acad Sci U S A. ; 111(29):10648-53 ; July 2014
Split hand-split foot malformation: implication of deletions of exonic enhancers of DLX5/6 in DYNC1I1
Consult the abstract
Orphanet Journal of Rare Diseases; 9:108 ; July 2014
Consult the Pubmed abstract

To read more about "Split hand-split foot malformation"

J Med Genet. ; 51(4):264-7 ; April 2014
Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia
Consult the Pubmed abstract
To read more about "Idiopathic achalasia"

Nat Genet. ; 46(8):901-4 ; August 2014

Research in Action

Clinical Research
Sickle cell anemia: regular blood-transfusion therapy significantly reduces the incidence of recurrence of cerebral infarct in children
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

N Engl J Med. ; 371(8):699-710 ; August 2014
Hereditary hemorrhagic telangiectasia: significant decrease in the duration of epistaxis in patients taking tranexamic acid
Consult the Pubmed abstracts
To read more about "Hereditary hemorrhagic telangiectasia"

J Thromb Haemost. ; 12(9):1494-502 ; September 2014
Thromb Res. ; 134(3):565-71 ; September 2014
Cervical dystonia: pallidal neurostimulation for 3 months is more effective than sham stimulation at reducing symptoms
Consult the Pubmed abstract

To read more about "Autosomal dominant cervical dystonia"

Lancet Neurol. ; 13(9):875-84 ; September 2014
Meningioma: sunitinib, a tyrosine kinase inhibitor, is active in recurrent atypical/malignant meningioma patients
Consult the Pubmed abstract
To read more about "Meningioma"

Neuro Oncol. ; [Epub ahead of print] ; August 2014
Waldenström macroglobulinemia: carfilzomib, rituximab, and dexamethasone (CaRD) treatment offers a neuropathy-sparing option
Consult the Pubmed abstract
To read more about "Waldenström macroglobulinemia"

Blood ; 124(4):503-10 ; July 2014
Cysticercosis: combination of albendazole plus praziquantel increases the parasiticidal effect in patients without increased side-effects
Consult the Pubmed abstract
To read more about "Cysticercosis"

Lancet Infect Dis. ; 14(8):687-9 ; August 2014
Neurogenic orthostatic hypotension: droxidopa, a norepinephrine precursor, improves symptoms and is well tolerated
Consult the Pubmed abstract
To read more about "Pure autonomic failure"

Neurology ; 83(4):328-35 ; July 2014
Prader-Willi syndrome: lack of effect of oxytocin nasal spray
Consult the Pubmed abstract
To read more about "Prader-Willi syndrome"

Am J Med Genet A. ; 164(9):2232-9 ; September 2014
Gaucher disease: long-term enzyme replacement therapy reduces the incidence of splenectomy and bone complications
Consult the Pubmed abstract
To read more about "Gaucher disease"

Orphanet J Rare Dis. ; 9(1):112 ; July 2014
Special issue of the “European Journal of Pediatric Surgery” on regenerative medicine for young individuals: customized therapies for rare diseases
Consult the Pubmed abstracts
Eur J Pediatr Surg. ; 24(3):203-4 ; June 2014
Eur J Pediatr Surg. ; 24(3):214-8 ; June 2014
Eur J Pediatr Surg. ; 24(3):246-62 ; June 2014
Eur J Pediatr Surg. ; 24(3):237-45 ; June 2014
Eur J Pediatr Surg. ; 24(3):270-7 ; June 2014
Eur J Pediatr Surg. ; 24(3):227-36 ; June 2014
Eur J Pediatr Surg. ; 24(3):219-26 ; June 2014
Eur J Pediatr Surg. ; 24(3):263-9 ; June 2014
Targeted sequencing is useful for detecting somatic mutations in patients with brain malformations
Consult the Pubmed abstract
N Engl J Med. ; 371(8):733-43 ; August 2014
Optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier
Consult the Pubmed abstract
To read more about "Autosomal dominant optic atrophy plus syndrome"
To read more about "Autosomal dominant optic atrophy, classic type"

Brain ; 137(Pt 8):2164-77 ; August 2014
Thymoma: a specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors
Consult the Pubmed abstract
To read more about "Thymoma"
To read more about "Thymoma type A"
To read more about "Thymoma type AB"

Nat Genet. ; 46(8):844-9 ; August 2014
Stem Cells

Review on the use of differentiated pluripotent stem cells in replacement therapy for treating disease
Consult the Pubmed abstract
Science ; 345(6199):1247391 ; August 2014
Gene Therapy
Retinitis pigmentosa: restoration of the majority of the visual spectrum in blind rats expressing mVChR1 via an adeno-associated virus vector
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"

Mol Ther. ; 22(8):1434-40 ; August 2014
Spinal muscular atrophy: systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in model mice
Consult the Pubmed abstract
To read more about "Proximal spinal muscular atrophy"

Mol Ther. ; 22(8):1450-9 ; August 2014
Beta-thalassemia: seamless HBB gene mutations correction in patient-specific induced pluripotent stem cells using CRISPR/Cas9 technology combined with piggyback transposon
Consult the Pubmed abstract
To read more about "Beta-thalassemia"

Genome Res. ; 24(9):1526-33 ; September 2014
Therapeutic Approaches

Cystic fibrosis: potentiator ivacaftor abrogates pharmacological correction of ΔF508-CFTR and potentiator VX-770 diminishes ΔF508-CFTR functional expression
Consult the Pubmed abstracts
To read more about "Cystic fibrosis"

Sci Transl Med. ; 6(246):246ra96 ; July 2014
Sci Transl Med. ; 6(246):246ra97 ; July 2014
Spinal muscular atrophy: morpholino antisense oligonucleotide targeting intronic repressor Element1 and SMN2 splicing modifiers improve phenotype in mouse models
Consult the Pubmed abstracts
To read more about "Proximal spinal muscular atrophy"

Hum Mol Genet. ; 23(18):4832-45 ; September 2014
Science ; 345(6197):688-93 ; August 2014
Duchenne muscular dystrophy: fluoxetine, a selective serotonin reuptake inhibitor, prevents dystrophic changes in a zebrafish model
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Hum Mol Genet. ; 23(17):4651-62 ; September 2014
Spinocerebellar ataxia type 3: calpain inhibition with BDA-410 reduces ataxin-3 cleavage alleviating neuropathology and motor impairments in mouse models
Consult the Pubmed abstract
To read more about "Spinocerebellar ataxia type 3"

Hum Mol Genet. ; 23(18):4932-44 ; September 2014
Neurofibromatosis type 1: asfotase-α improves bone growth, mineralization and strength in mouse models
Consult the Pubmed abstract
To read more about "Neurofibromatosis type 1"

Nat Med. ; 20(8):904-10 ; August 2014
Neurofibromatosis type 1: polycomb repressive complex 2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies
Consult the Pubmed abstract
To read more about "Neurofibromatosis type 1"

Nature ; [Epub ahead of print] ; August 2014
Marburg hemorrhagic fever: macaques that received lipid nanoparticle-encapsulated anti-Marburg virus nucleoprotein small interfering RNA survived infection
Consult the Pubmed abstract
To read more about "Marburg hemorrhagic fever"

Sci Transl Med. ; 6(250):250ra116 ; August 2014
A mutation-specific anti-IDH1(R132H) vaccine induces antitumour immunity in mice
Consult the Pubmed abstract
To read more about "Syndromic neurometabolic disease with non-X-linked intellectual disability"
To read more about "Astrocytoma"
To read more about "Glioblastoma"

Nature ; 512(7514):324-7 ; August 2014
Congenital pulmonary alveolar proteinosis: pulmonary transplantation of macrophage progenitors as effective and long-lasting therapy in a murine model
Consult the Pubmed abstract
To read more about "Congenital pulmonary alveolar proteinosis"

Sci Transl Med. ; 6(250):250ra113 ; August 2014
Fragile X syndrome: rescue of phenotypes in Fmr1 KO mice by BMS-204352, a BKCa channel opener molecule
Consult the Pubmed abstract
To read more about "Fragile X syndrome"

Orphanet J Rare Dis. ; 9(1):124. ; August 2014
Gastric cancer: denervation suppresses gastric tumorigenesis in mouse models
Consult the Pubmed abstract
To read more about "Gastric cancer"

Sci Transl Med. ; 6(250):250ra115 ; August 2014
Diagnostic Approaches

Creutzfeldt-Jakob disease: diagnosis using nasal brushings and detecting misfolded prion proteins in patients’ urine samples
Consult the Pubmed abstracts PMID: 25099576 N Engl J Med. 2014
To read more about "Creutzfeldt-Jakob disease"

N Engl J Med. ; 371(6):519-29 ; August 2014
N Engl J Med. ; 371(6):530-9 ; August 2014
Inclusion body myositis: evaluation and construction of diagnostic criteria
Consult the Pubmed abstract
To read more about "Inclusion body myositis"

Neurology ; 83(5):426-33 ; July 2014

Patient Management and Therapy
Multiple endocrine neoplasia type 1: intensified breast-cancer screening at a relatively young age should be considered in female patients
Consult the Pubmed abstract
To read more about "Multiple endocrine neoplasia type 1"

N Engl J Med. ; 371(6):583-4 ; August 2014
SMAD4 mutations carriers should be managed for juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia and connective tissue pathology should also be investigated
Consult the Pubmed abstract
To read more about "Juvenile polyposis syndrome"
To read more about "Hereditary hemorrhagic telangiectasia"

Genet Med. ; 16(8):588-93 ; August 2014
Inherited ichthyosis: risk of vitamin D deficiency, especially in winter and spring, in case of dark skin or severe disease
Consult the Pubmed abstract
To read more about "Inherited ichthyosis"

Orphanet J Rare Dis. ; 9(1):127 ; August 2014
Autoimmune-associated hemophagocytic syndrome: review on clinical characteristics and treatment outcomes in adults
Consult the Pubmed abstract
To read more about "Hemophagocytic syndrome"

Arthritis Rheumatol. ; 66(8):2297-307 ; August 2014
Severe combined immunodeficiency: review on transplantation outcomes for 2000-2009 in North America
Consult the Pubmed abstract
To read more about "Severe combined immunodeficiency"

N Engl J Med. ; 371(5):434-46 ; July 2014
Interstitial lung diseases with systemic sclerosis and idiopathic pulmonary fibrosis: review on similarities and differences
Consult the abstract
To read more about "Diffuse cutaneous systemic sclerosis"
To read more about "Idiopathic pulmonary fibrosis"

Arthritis Rheumatol. ; 66(8):1967-78 ; August 2014
Polycythemia vera: review on givinostat treatment
Consult the abstract
To read more about "Polycythemia vera"

Expert Opinion on Orphan Drugs ; 2(8):841-850 ; August 2014
Hyperparathyroidism: review on cinacalcet treatment
Consult the abstract
To read more about "Parathyroid carcinoma"
To read more about "Familial primary hyperparathyroidism"
To read more about "Neonatal severe primary hyperparathyroidism"
To read more about "Multiple endocrine neoplasia type 1"
To read more about "Familial hypocalciuric hypercalcemia"

Expert Opinion on Orphan Drugs ; 2(8):851-863 ; August 2014
Retroperitoneal fibrosis: review on the treatments
Consult the abstract
To read more about "Retroperitoneal fibrosis"

Expert Opinion on Orphan Drugs ; 2(8):769-777 ; August 2014
Congenital isolated hyperinsulinism: review on advances in diagnosis and management
Consult the abstract
To read more about "Congenital isolated hyperinsulinism"

Expert Opinion on Orphan Drugs ; 2(8):779-795 ; August 2014
Guillain-Barré syndrome: review on new treatments
Consult the abstract
To read more about "Guillain-Barré syndrome"

Expert Opinion on Orphan Drugs ; 2(8):817-829 ; August 2014
Anaplastic oligodendroglioma and oligoastrocytoma: review of current and future treatment options
Consult the abstract
To read more about "Anaplastic oligodendroglioma"
To read more about "Anaplastic oligoastrocytoma"

Expert Opinion on Orphan Drugs ; 2(8):831-840 ; August 2014
Hereditary and acquired angioedema: review on therapeutic approach
Consult the Pubmed abstract
To read more about "Hereditary angioedema"
To read more about "Acquired angioedema"

Curr Opin Allergy Clin Immunol. ; 14(4):354-62 ; August 2014
Thrombotic microangiopathy: a review
Consult the Pubmed abstract
To read more about "Thrombotic microangiopathy"

N Engl J Med. ; 371(7):654-66 ; August 2014
Neuromuscular channelopathies: review on treatment and management
Consult the Pubmed abstract
To read more about "Channelopathy"

Curr Treat Options Neurol. ; 16(10):313 ; October 2014
Cushing syndrome: review on systemic therapy
Consult the Pubmed abstract
To read more about "Cushing syndrome"

Orphanet J Rare Dis. ; 9:122 ; August 2014
Chédiak-Higashi syndrome: review on management
Consult the Pubmed abstract
To read more about "Chédiak-Higashi syndrome"

Orphanet J Rare Dis. ; 9:132 ; August 2014
Loeys-Dietz syndrome: review on diagnosis and management
Consult the Pubmed abstract
To read more about "Loeys-Dietz syndrome"

Genet Med. ; 16(8):576-87 ; August 2014
Pseudohypoparathyroidism without GNAS point mutations: European guidance for the molecular diagnosis
Consult the Pubmed abstract
To read more about "Pseudohypoparathyroidism"

Eur J Hum Genet. ; [Epub ahead of print] ; July 2014
One new Clinical Utility Gene Card published in the European Journal of Human Genetics
EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases.
The European Journal of Human Genetics has published one new Clinical Utility Gene Card for:
ALG6 defective congenital disorder of glycosylation

2 new and 20 updated GeneReviews published
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. 2 new GeneReviews has been published for:
EXOSC3-related pontocerebellar hypoplasia
Spinocerebellar ataxia type 36

20 GeneReviews have been updated for:
PLA2G6-associated neurodegeneration
Hereditary ataxia
LIS1-associated lissencephaly/subcortical band heterotopia
Mitochondrial disorders
Prothrombin-related thrombophilia
Birt-Hogg-Dubé syndrome
CATSPER-related male infertility
PROP1-related combined pituitary hormone deficiency
Rubinstein-Taybi syndrome
Short-chain acyl-CoA dehydrogenase deficiency
Waardenburg syndrome type I
Citrin deficiency
Hereditary diffuse gastric cancer
Hypokalemic periodic paralysis
SOX2-related eye disorders
Friedreich ataxia
Hereditary hemorrhagic telangiectasia
Pachyonychia congenita
Pyruvate carboxylase deficiency
von Willebrand disease


Orphan Drugs

Regulatory News
New indication for Elelyso™ to treat children with type 1 Gaucher disease
On 28th August, the FDA approved a new paediatric indication for injectable Elelyso™ (taliglucerase alfa) to treat children with type 1 Gaucher disease. Developed by Pfizer and Protalix BioTherapeutics, Elelyso™ long-term enzyme replacement therapy (ERT) is now available for both adult and paediatric patients. The FDA initially approved Elelyso in May 2012 to treat adults with type 1 Gaucher disease.

Read the press release

New indication for Promacta® to treat patients with severe aplastic anaemia
On 26th August, the FDA approved a new application for Promacta® (eltrombopag) to treat patients with severe aplastic amaemia (SAA), a rare blood disorder caused by bone marrow failure. Developed by GSK, Promacta® was originally approved by the FDA in November 2008 to treat Idiopathic Thrombocytopenic Purpura, an autoimmune coagulation disorder. Promacta® is now indicated for SAA patients who have not, or insufficiently, responded to current treatment options, such as immunosuppressive therapy.

Read the press release

Approval of Cerdelga™ capsules to treat patients with type 1 Gaucher disease
On 19th August, the FDA approved Cerdelga™ (eliglustat) capsules, the only first-line oral long-term therapy to treat adults with type 1 Gaucher disease. For patients who do not metabolise Cerdelga™ too rapidly, this novel oral treatment represents a significant improvement in administration of enzyme replacement therapy, until now infused intravenously.

Read the FDA press release

Approval of Lumizyme to treat paediatric patients with early-onset Pompe disease
On 1st August, the FDA announced the approval of Lumizyme (alglucosidase alfa), a lysosomal glycogen-specific enzyme, as safe to treat all age patients with infantile-onset Pompe disease, which includes patients up to eight years of age. Originally approved in 2010, Lumizyme was restricted to use in patients with late-onset Pompe disease aged eight years and above, to help restore muscle function. The drug entered and successfully fulfilled the requirements of a Risk Evaluation and Mitigation Strategy (REMS) to eliminate risks to late- and early-onset Pompe disease patients under eight years of age.

Read the FDA press release

Approval of Gazyvaro to treat patients with chronic lymphocytic leukaemia
On 29th July, the EMA approved Gazyvaro (obinutuzumab), the first type II glycoengineered anti-CD20 monoclonal antibody, to treat patients with chronic lymphocytic leukaemia (CLL) and other comorbidities, avoiding them having to undergo intense fludarabine based therapy.

Read the press release


19 positive opinions recommending orphan designation at the September 2014 COMP meeting
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted 19 positive opinions recommending the following medicines for designation as orphan medicinal products to the European Commission, issued at the September 2014 meeting for the:

Opinions adopted at the second COMP discussion, following the sponsor’s response to the COMP list of questions:

- treatment of pemphigus
- treatment of Leigh syndrome
- treatment of Dravet syndrome
- treatment of limbal stem cell deficiency
- treatment of cystinosis
- treatment of pancreatic cancer
- treatment of Cushing's syndrome
- treatment of short bowel syndrome
- treatment of localised and diffused tenosynovial giant cell tumour
Opinions adopted at the first COMP discussion:

- treatment of fragile X syndrome (two treatments)
- treatment of Crigler-Najjar syndrome
- treatment of congenital hyperinsulinism
- treatment of cystic fibrosis
- treatment of pyridoxamine 5'-phosphate oxidase deficiency
- treatment of inhalation anthrax disease
- treatment of glioma
- treatment of mucopolysaccharidosis type I
- treatment of X-linked hypophosphataemia

Consult the European Register of Designated Orphan Medicinal Products
Consult the Orphanet list of orphan drugs authorised for marketing in Europe

Political and Scientific News
One drug, many diseases: clinical trials based on common underlying disease mechanisms could improve access to treatment for rare disorders
As research and knowledge increase on rare diseases, so does public expectation of more treatments for these disorders. Drug development for the approximately 7,000 known rare diseases remains, however, limited due to restricted industrial interest, small affected patient populations per disorder and disease complexity. In an article published in Nature Biotechnology, Brooks et al. suggest that groups of apparently distinct rare diseases might share similar or identical biological mechanisms. Drug development challenges could therefore be overcome by grouping diseases based on their underlying cause—or aetiology—, rather than concentrating on one treatment for one rare disorder at a time.

Examples include recently approved ataluren to treat Duchenne muscular dystrophy. The authors indicate that ataluren has also demonstrated efficacy in treating cystic fibrosis, suggesting that several clinically distinct disorders result from common underlying causes and might respond positively to a same drug. Biotech company Orphazyme was granted a patent to use heat shock protein 70 (Hsp70) to develop a treatment for several lysosomal storage disorders, including Niemann-Pick, Tay-Sachs, Gaucher and Fabry diseases. For such disorders, resulting from one of two—or several— mutations, the authors suggest clinical trials could be conducted based on the mutation rather than on the disease.

Brooks et al. appreciate that this approach would require substantial collaborative research efforts across different diseases. It might become necessary to conduct clinical trials in a single academic or medical centre, or across a consortium of research centres. One such example is the clinical trial of Xalkori (crizotinib) to treat several types of paediatric cancers. Patients were recruited on the basis of common mutations in distinct cancers. Brooks et al. believe that adopting this approach for drug development could have multiple benefits: greater industrial interest in rare diseases, larger patient pools to conduct clinical trials, improved understanding of the relationship between disease and drug response, and potential therapeutic benefits for a greater number of patients.

Consult the article reference

Results of an orphan drug evaluation framework launched in Canada
Canada’s province of Ontario established the Drugs for Rare Diseases Working Group (DRDWG) in 2007 to develop a framework for orphan drug reimbursement decisions. In a recent article published in the Journal of General Internal Medicine, Winquist et al. describe the impact of the framework on drug applications and funding recommendations. Eight orphan drugs—costing between CA$ 28,000 and CA$ 1,200,000 per patient per year—, were evaluated in seven stages, including assessment of the clinical value of the treatment, its effectiveness and economic impact, and consultation with experts and stakeholders. Winquist et al. highlight the effectiveness of the framework to assess candidate drugs for rare diseases in a transparent and consistent mode.

The authors indicate, however, that the method was applied to a selected number of treatments for ultra-rare conditions only, suggesting that no clear definition of disease rarity was established. Nevertheless, Winquist et al. agree that where clinical evidence is difficult to obtain in a clinical trial setting—due to very small patient numbers—, the evaluation framework provides strong evidence on which to base funding decisions. Moreover, the method allows ongoing clinical evidence to be included into drug evaluations, providing up-to-date ‘real-world’ data to support funding recommendations. Similar to the EMA’s adaptive licensing pilot project, the authors believe this iterative approach will contribute towards consistent evaluation of drugs for rare diseases.

Read the open access article

A joint position in favour of revoking the exclusive haemophilia treatment market
The EU Orphan Medicinal Product Regulation (OMPR 141/2000) grants orphan medicinal products a ten year marketing exclusivity period, preventing similar drugs being approved for another ten years. In an article published in Haemophilia, O’Mahony et al. present a case against this legislation concerning haemophilia treatments. While they support the OMPR to encourage drug development to treat rare diseases for which no treatment exists, they believe the haemophilia market is sufficiently large to withstand competition.

With seventy plasma-derived and recombinant treatments for haemophilia A and B worldwide, generating over US$ 7 billion annually, the authors maintain the haemophilia market does not need the OMPR's support to grow. The European Haemophilia Consortium (EHC), the European Association for Haemophilia and Allied Disorders (EAHAD) and the World Federation of Haemophilia (WFH) appealed to the European Commission and the EMA, in a joint position, to open up competition to manufacturers of longer acting haemophilia treatments for improved patient quality of life. The joint position argues that longer acting products are not similar to existing treatments. The authors further argue that preventing the development of new products denies haemophilia patients the right to adequate and improved treatment.

Read the open access article

The Children’s Pharmacy Collaborative™: a tool to support paediatric drug repurposing
Developing orphan drugs for children is typically challenging due to the limited number of patients, age-dependent dosage and tight regulation to conduct clinical trials on minors. To date, around 500 drugs only are FDA approved for paediatric use. Drug repositioning represents a relatively quicker option to develop drugs for children as clinical testing for new indications does not require initial toxicity studies. On the other hand, testing existing drugs in children will require dose finding and pharmacokinetic studies.

In an article published in Drug Discovery Today, Blatt et al. introduce the Children’s Pharmacy CollaborativeTM, a non-exhaustive database of drugs reported to have been used previously in children. Based on existing databases, such as the Johns Hopkins Clinical Compound Library (JHCCL), the authors identified around 1,250 drugs reported to have been used in minors. This figure suggests that many drugs are therefore used off-label in children. The authors believe this first paediatric-focused database will help identify candidate drugs for repurposing in paediatrics.

Consult the PubMed abstract

The European Paediatric Drug Regulation: baby steps towards increased orphan drug indications for children
As mentioned in the previous article, drug repurposing is encouraged by regulatory agencies to increase the number of orphan drugs for paediatric use and minimise off-label and potentially hazardous use of these drugs in children. In an article published in Orphanet Journal of Rare Diseases, Kreeftmeijer-Vegter et al. study the impact of the European Paediatric Drug Regulation on orphan drug (OD) development for paediatric use.

Introduced in 2007, the regulation requires applicants to submit a Paediatric Investigation Plan (PIP) describing intended age-adapted paediatric drug evaluation processes. The authors report that 600 PIPs were granted since the regulation was enforced, 30% of which addressed neonates. Since earlier introduction of the Orphan Drug Regulation in 2000, 670 (62%) of all orphan drug designations (ODDs) were already intended for both children and adults, of which 161 (15%) were granted for children only. By end 2013, 40 (3.7%) of all ODDs received marketing authorisation for children. A further 34 ODs are under investigation for paediatric use.

The authors suggest that, while the Paediatric Drug Regulation encourages development of formulations for children, the legislation has not resulted in significantly more OD paediatric-specific indications. Kreeftmeijer-Vegter et al. observe that delays in paediatric OD marketing authorisations correlate with time to marketing authorisation for adult indications. This is generally due to clinical studies required in adults before paediatric investigation is considered, in order to rule out drug toxicity and evaluate dosage.

While it is still too soon to assess the full impact of the Paediatric Drug Regulation, the authors believe that additional non-clinical evidence would contribute to data required for paediatric drug evaluation. Modelling and simulation approaches, based on collected evidence, can further enhance clinical data and help minimise unnecessary investigations in paediatric populations.

Read the open access article



FRT - Fondation René Touraine (FRT) Award
These grants are awarded to encourage exchanges and international collaboration between research laboratories or clinical departments for pre- or post-doctoral research fellows and dermatologists. The award consists of one €18,000 fellowship for a long-term exchange and four €4,500 fellowships for a short-term exchanges. Eligibility criteria for these grants includes: exchange with a laboratory or department from another country; involvement of at least one European laboratory; benefits for both host and home laboratories.
Application deadline: 1 October, 2014.
Download the application form
For further details

7th international Call for SMA Research Projects
This Call is open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or elucidating the basic pathophysiological processes of the disease. SMA-Europe aims to help the international scientific and medical community in its search for therapies for SMA. Preferences will be given to projects with the greatest potential to overcome barriers to translate science into effective treatments.
Two types of research grants will be awarded for up to two years:
1. Operating Grants
2. Postdoctoral Fellowship
Application deadline: 16 October, 2014
For further details


Courses & Educational Initiatives

EUPATI Training Course
The EUPATI Expert Training Course is an opportunity offering patient advocates expert-level training in medical research and development, specifically tailored for them. The certificate course will be a mixture of online and face-to-face modules over a 13-month period, beginning in September 2014.
For further information

‘Explique-moi les essais cliniques’: the keys to understanding clinical trials to become an actor of one’s disease (in French)
Date: 14-15 October 2014
Venue: Marseille, France

The objective of this course is to sensitise patients to clinical trials through better understanding of the drug development process, in particular the way in which clinical trials are conducted.
The course will be held in French.
For further information

Workshop: a common vocabulary to classify resources in the life science domain
Date: 16 October, 2014
Venue: Brussels, Belgium
A one day vocabulary workshop, organised by ELIXIR, BioMedBridges and RDA, to agree on common vocabulary to classify resources in the life sciences domain. The course welcomes representatives of societies, networks, institutes, organisations, research infrastructures and projects and will involve and welcome ontologists to participate in discussions.
For further information

Genodermatoses Network Training Session
Date: 30-31 October 2014
Venue: Paris, France

The objective of this course is to increase knowledge on cutis laxa, ectodermal and keratodermal disorders, their detection, diagnosis and management; develop and improve skills to manage common problems in different genodermatoses; encourage health care providers to adopt a multidisciplinary approach; provide updates on latest findings and treatments; highlight the key role of patient groups; and network specialists. This training is intended for all health care providers involved in the field of rare skin diseases.
For further information

III International EPIRARE workshop: rare disease and orphan drug registries
Date: 24-25 November, 2014
Venue: Rome, Italy

Participants will be able to exchange experiences and present scientific results, in an effort to foster international collaboration.
For further information

ESH-ENERCA Training course on haemoglobin disorders: laboratory diagnosis and clinical management
Date: 23-24 January, 2015
Venue: Barcelona, Spain

The course will cover the following topics: Epidemiology in practice, Clinical aspects of thalassaemia, Trends in biological aspects of thalassaemia, Abnormal haemoglobins and Complications and treatments of thalassaemia and sickle cell disease.
Participants are encouraged to submit clinical cases or abstracts for presentation and discussion during the meeting. Submit your detailed clinical case(s) online
Deadline for clinical cases and abstracts: 24 November, 2014
For further information


What's on Where?

International Clinical Conference Jérôme Lejeune: Intellectual disability and the importance of assessment
Date: 18-19 September, 2014
Venue: Paris, France

Renowned leaders from around the world will present their cutting-edge research on assessment and how it can contribute to improving our understanding of the different genetic conditions associated with intellectual disability, improve our evaluation of individual functioning, personalise our delivery of supports and services, and measure intervention effectiveness. The conference programme was developed for an audience of clinicians who provide care or supports to persons with intellectual disability and their families.
For further information

SIOPE – ENCCA Conference 2014: Joining Efforts for a Brighter Future for Children and Adolescents with Cancer
Date: 18-19 September, 2014
Venue: Brussels, Belgium

The conference will address: Integrating innovative therapies into standard care; Improving quality of life in survivors; Solving inequalities across Europe; and Mobilising all stakeholders.
EU and national policy makers, parents, patients, health professionals, researchers, regulators, charities and international bodies are welcome.
For further information

16th International Conference on Behçet’s Disease
Date: 18-20 September, 2014
Venue: Paris, France

This conference will provide high quality contributions on a wide range of topics including clinical innovations, genetics and basic science. Updates on new therapeutic strategies will be presented and challenging issues will be discussed. Distinguished lecturers in the field of innate immunity are expected to participate in panel discussions.
For further information

2nd European Conference on Aniridia
Date: 19-20 September, 2014
Venue: Venice, Italy

Aniridia Europe and Aniridia Italiana are pleased to announce the 2nd European conference on Aniridia. Their aim is to improve information and treatment of aniridia, foster research by creating scientific interest, connect professionals at local and international levels, develop guidelines, and support patients. Aniridia is a rare genetic disorder affecting vision, characterised by incomplete formation of the iris.
For further information

4th Annual Brain Metastases Research and Emerging Therapy Conference
Date: 19-20 September, 2014
Venue: Marseille, France

This European Organisation for Research and Treatment of Cancer (EORTC) initiative intends to foster a multidisciplinary approach needed to develop brain metastases (BM) projects across several tumour types and disciplines such as breast cancer, lung cancer, melanoma, imaging, pathobiology and radiation oncology. This conference aims to stimulate innovative and insightful research in a collaborative environment and improve the standard of care and methodology of clinical research. Topics will cover new models of Academia-Industry partnership and biobanking strategies in BM to enhance personalised medicine approaches.
For further information

National Williams Syndrome Australia Conference
Date: 19-21 September, 2014
Venue: Sydney, Australia

Participants attending the conference will obtain up-to-date advice from medical, education and health experts, learn about the latest medical and research findings, and gain family insights and perspectives. Guest speakers will talk about medical issues, and advances in research and treatments. It will also be an opportunity to meet other WS families.
For further information

9th International Research Symposium on Marfan Syndrome and related disorders
Date: 25-27 September, 2014
Venue: Paris, France

The International Symposia are state-of-the-art meetings on Marfan syndrome and related disorders at which new cutting-edge research is presented and discussed. Efforts have been made to integrate both basic and translational mouse studies with clinical studies in each session. This is done to encourage discussion between clinicians and researchers so all can better understand the value and limitations of translational mouse model studies.
Session topics include presentations on current clinical trials, controversial surgical issues and techniques, challenging issues in non-cardiovascular aspects of Marfan syndrome, clinical management of new related disorders, phenotype/genotype correlations, pathogenic mechanisms in animal models, and emerging therapeutic strategies.
For further information

EFGCP / DIA / EMA Annual Conference 2014 on Better Medicines for Children: ‘Explore Ways to Enhance Collaboration Between Key Players’
Date: 30 September - 1 October, 2014
Venue: London, UK

The aim of this conference is to discuss on a high level how the EU paediatric regulation is working and how it contributes to children’s health. This will include a discussion on the preparedness for the 10-year report, strategic thoughts within the EMA on how to streamline paediatric development and a session dedicated to paediatric oncology.
For further information

Single topic symposium in metabolic liver disease
Date: 2-4 October, 2014
Venue: Birmingham, UK

This symposium will include experts presenting information on diagnosis and treatment of metabolic liver disease as well as information on lipid disorders such as homozygous hypercholesterolaemia, Lysosomal acid lipase deficiency, Mitochondrial Diseases and other specific metabolic disorders.
For further information

ICORD 2014 Annual Meeting: Societal value of Prevention, Diagnosis and Treatment of Rare Diseases
Date: 7-9 October, 2014
Venue: Ede, The Netherlands

The ICORD annual meeting will be held jointly with the FIGON Dutch Medicine Days. The conference will propose interactive sessions with ZonMw, the Dutch Drug Evaluation Board, the Dutch Clinical Trial Foundation, ICORD working groups and IRDiRC.
Sessions will include: prevention, diagnosis and neonatal screening; orphan drugs and personalised medicine; patient views; registries and biobanks; and international collaborations.
Healthcare professionals, research, academia, industry, regulatory authorities, policy makers, patient representatives and media are invited to participate.
For further information

The Translational Science of Rare Diseases: From Rare to Care II
Date: 8-10 October, 2014
Venue: Herrenchiemsee, Germany

This meeting will bring together high-profile scientists from around the world, active in the field of rare disease research and translational medicine, and will focus on how basic science on rare diseases can have an impact for the development of novel therapeutic strategies.
For further information

9th ISNS European Neonatal Screening Regional Meeting
Date: 12-15 October, 2014
Venue: Birmingham, UK

This conference will focus on neonatal screening for various diseases.
For further information

Dysmorphology and Radiology of Inborn Errors of Metabolism
Date: 16-17 October, 2014
Venue: Manchester, UK

The topics covered will be of interest to clinicians who deal with rare disorders or have an interest in clinical genetics, IEMs or paediatrics. Participants are expected to have some background knowledge of the field, although extensive experience is not required. Participants are strongly recommended to bring interesting, unusual or unsolved cases for discussion.
For further information

II International Conference on Rare Cardiovascular Diseases
Date: 16-17 October, 2014
Venue: Krakow, Poland

Under the Development of the European Network in Orphan Cardiovascular Diseases framework, co-funded by the Malopolska Regional Operational Programme, the conference is aimed at general physicians and experts treating patients with rare cardiovascular diseases. Discussions will also cover the healthcare system organisation for this group of patients. The conference is aimed at strengthening awareness on the need to coordinate research, disease registries and knowledge exchange to improve care for patients with rare cardiovascular diseases.
For further information

International Scientific Symposium on Angelman Syndrome 2014
Date: 17-19 October, 2014
Venue: Paris, France

Organised by the French Angelman Syndrome Association (AFSA), the symposium will bring together international scientists studying the mechanisms associated with Angelman syndrome and promote exchanges between researchers to advance research in genetics and neuroscience on this rare disease. The meeting is open to official representatives of European and national Angelman syndrome organisations (up to 2 persons per organisation).
For further information

64th Annual Meeting of the American Society of Human Genetics: ASHG 2014
Date: 18-22 October, 2014
Venue: San Diego, US

The ASHG Annual Meeting is the largest human genetics meeting and exposition in the world. This year’s meeting is expected to attract over 6,500 scientific attendees and over 200 exhibiting companies. ASHG members and leading scientists from around the world are selected to present their research findings at invited, platform, and poster sessions. Abstracts of work submitted for presentation at the Annual Meeting are published online and are citable. ASHG's Annual Meeting also features a trade show floor that offers attendees the opportunity to view state-of-the-art medical and laboratory equipment, products, services, and computer software designed to enhance human genetics research, teaching, and consultation.
For further information

NORD’s Rare Diseases and Orphan Products Breakthrough Summit
Date: 22-23 October, 2014
Venue: Alexandria, Virginia, US

The 2014 Breakthrough Summit will concentrate on innovative content and will welcome the top leaders from the FDA, NIH, Industry, Patient Groups, Payers and Research Institutions to address the progress of rare disease diagnosis, genomics, drug development, patient engagement, product approvals, FDA oversight and market accessibility to orphan products.
For further information

14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
Date: 22-25 October, 2014
Venue: Córdoba, Argentina

Batten disease is a common name for a group of rare, neurodegenerative genetic disorder affecting approximately 1 in 30,000 individuals. This conference will bring together experts on the latest research into Batten disease, experimental therapies, and clinical perspectives. Workshops will also be organised, covering topics such as patient registries and ethical issues.
For further information

International VHL Medical Symposium
Date: 23-25 October, 2014
Venue: Madrid, Spain

Biennial International VHL Medical Symposia bring together the leaders in VHL basic, translational and clinical research, as well as the leading clinicians in clinical treatment for VHL. The gathering creates a stimulating environment while helping to make connections among these professionals that will spur the pace of progress in understanding and treating VHL. The content is aimed at medical researchers and healthcare professionals. Patients and caregivers are encouraged to attend. Their participation is highly valued as they are the true authorities of von Hippel-Lindau.
For further information

30th Annual Meeting of the Histiocyte Society
Date: 28-30 October, 2014
Venue: Toronto, Canada

The Annual Meeting of the Histiocyte Society serves as the main forum for many of the world's most accomplished histiocytosis researchers and medical professionals to engage in vital collaboration and dialogue with one another. This year, the Society's 30th Annual Meeting will feature presentations on the study and treatment of the histiocytic disorders. Society members will present updates on ongoing Society-sponsored clinical trials on the histiocytic disorders.
For further information

ESID Meeting 2014
Date: 29 October - 1 November, 2014
Venue: Prague, Czech Republic

The 16th Biennial Meeting of the European Society for Immunodeficiencies (ESID 2014), offers access to the latest research and analysis in the field. Meeting participants will gain insights into innovative perspectives in both basic and clinical research. The scientific programme will draw together experts from around the world to discuss breakthroughs in diagnostic immunology, genetics and immunobiology of human diseases, advances in clinical practice, novel therapeutic approaches to tolerance induction and new insights into stem-cell and cellular therapies.
For further information

New frontiers in Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside
Date: 30 October - 1 November, 2014
Venue: Stresa, Italy

This third joint symposium on Neuroacanthocytosis addresses neurologists, interns, haematologists and biotechnologists working in the field of diagnostic, clinical and therapeutic management of patients affected by Neuroacanthocytosis and brain iron accumulation diseases. The scientific issues of this meeting will cover both the identification and characterisation of new aspects of this condition, as well as clinical developments.
The international NBIA umbrella patient organisation NBIA Alliance offers travel grants for postdoctoral fellows and early career clinical doctors, involved in NBIA research and interested to attend the 3rd Joint NA & NBIA Symposium.
For further information

2nd International Rare Diseases Research Consortium (IRDiRC) Conference
Date: 7-9 November, 2014
Venue: Shenzhen, China

The second conference is organised by the International Rare Diseases Research Consortium (IRDiRC), in collaboration with the BGI. The conference will gather top scientists from Europe, North America and Asia-Pacific for dynamic exchanges on knowledge and expertise. The event will also include an educational track. The ambition of this conference is to provide researchers with opportunities to establish new collaborations and confront different cultural approaches to the challenges posed by rare diseases.
Abstract submission has been extended to 15 October.
For further information

4th Pan-European Conference on Haemoglobulinopathies and Rare Anaemias
Date: 7-9 November, 2014
Venue: Athens, Greece

The 4th Pan-European Conference on Haemoglobinopathies and Rare Anaemias aims to educate and empower patients, develop European expert collaborative networks and improve multidisciplinary interaction concerning policy decision making.
For further information

Third International Symposium on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Date: 12-13 November, 2014
Venue: Montreal, Canada

The Montreal Neurological Institute and Hospital will host the 3rd International Symposium focusing on advances in understanding ARSACS (Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay) in the larger context of mitochondrial dysfunction in neurodegeneration. This two day symposium will bring together clinical, ataxia, and mitochondrial experts, as well as drug developers, to discuss how to accelerate the discovery of treatments for ARSACS.
For further information

Ataxia Telangiectasia Clinical Research Conference 2014
Date: 13-15 November, 2014
Venue: Nijmegen, The Netherlands

The bi-annual A-T Clinical Research Conference 2014 brings together leading figures from the fields of clinical science and translational research in Ataxia-Telangiectasia. The objective of the conference is to share knowledge and map progress in the fields of current research and help identify priorities for future research and opportunities for collaboration. The programme includes lectures, presentation of selected abstracts, a poster session, four workshops, a ‘best poster prize’ and a social programme.
For further information

Cilia 2014
Date: 18-21 November, 2014
Venue: Paris, France

Cilia 2014 will focus on (but not be limited to) recent advances in cilia structure and function, including trafficking, cilia and development, cilia in human genetic disease and cilia in infectious microorganisms. The event is organised by four European cilia networks: GDR CIL (France), the Ciliopathy Alliance, the Nordic Cilia & Centrosome Network (Scandinavia) and the EU-FP7 SYSCILIA programme.
For further information

European Williams Syndrome Conference
Date: 21-23 November, 2014
Venue: Budapest, Hungary

The European Federation of Williams Syndrome (FEWS) organises, with the Hungarian Williams Syndrome Association (HWSA), this conference to raise awareness, increase interaction between stakeholders and establish international cooperation.
The focus is to share good practice and knowledge on the disease between European Countries with a good expertise and other European Countries with lesser experience on the syndrome. The ultimate goal is to improve patient care and contribute to EU policy on rare diseases.
The conference targets healthcare professionals, caregivers, politicians, patient organisations, researchers and academics, national authorities, medical societies, health industry, media, etc., as well as professionals from countries with limited knowledge about the syndrome, in order to spread awareness.
For further information

22nd René Touraine Foundation for Dermatology Scientific Meeting
Date: 5 December, 2014
Venue: Paris, France

Every year, the Scientific Meetings go over any acquired knowledge on one skin cell. Mornings are reserved for fundamental approaches, while afternoons are devoted to approaches applied to physiopathology, pharmacology and therapeutic. These are multi-subject meetings. Each presentation starts with a general overview of the terminology used, and continues with the speaker’s own research.
For further information

Trisomy 21 Research Society (T21RS) International Conference
Date: 4-6 June, 2015
Venue: Paris, France

T21RS promotes research on Down syndrome and stimulates collaboration between researchers worldwide. The first edition of the T21RS International Conference will be held at the site of the Hôpital de la Pitié-Salpêtrière in Paris. More details will be announced in due course.
For further information

7th International Conference on Children’s Bone Health
Date: 27-30 June, 2015
Venue: Salzburg, Austria

The International Conference on Children’s Bone Health (ICCBH) meetings provide an international forum for the presentation and discussion of current basic and clinical science in the field of bone metabolism and bone mass in children, adolescents and young adults.
The call for abstracts opens in September 2014.
Abstract deadline: 6 February 2015.
For further information

2nd International Primary Immunodeficiencies Congress (IPIC)
Date: 5-6 November, 2015
Venue: Budapest, Hungary

The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the Second International Primary Immunodeficiencies Congress (IPIC). This event will build on the successful outcomes of the first IPIC, attended by 400 participants. The congress will consist of a two-day programme and is open to all stakeholders with an interest in clinical management of primary immunodeficiencies (PIDs).
For further information

13th International Congress of Human Genetics (ICHG) 2016
Date: 3-7 April, 2016
Venue: Kyoto, Japan

Hosted by the East-Asian Union of Human Genetic Societies (EAUHGS) and the Japan Society of Human Genetics, the 13th ICHG will focus on progress in genome analysis technologies and big data in order to explore disease mechanisms and treatment opportunities.
Registrations open in 2015.
For further information


Commercial events

The Orphan Drugs, Collaborations & Market Access Congress
Date: 29-30 September, 2014
Venue: San Diego, US

Investors and experts in the field of orphan drugs and rare diseases will share innovative research and best practice approaches on diagnosis, rare disease R&D, business collaboration and partnerships, market access, patient involvement, risk sharing, pricing and reimbursement. Through expert speaker panels, interactive forums, an exhibition area, venture capital and funding strategy streams, the meeting hopes to create partnerships and offer solutions to address the 7,000 rare diseases afflicting patients and the financial implications of working in this field.
For further information

Orphan Drugs and Rare Diseases
Date: 20-21 October, 2014
Venue: London, UK

SMi present the 3rd Annual Orphan Drugs and Rare Diseases Conference. The Orphan Drugs market is set to rise as a result of pharmaceutical companies now looking to orphan drugs as an essential revenue stream with 2014 set to be the year to see Orphan adoption.
For further information

3rd annual World Biosimilar Congress
Date: 11-12 November, 2014
Venue: Geneva, Switzerland

The 3rd annual World Biosimilar Congress offers keynotes, case studies and roundtables covering topics relating to process, production, regulation and marketing strategies for biosimilars. Speakers and attendees include industry executives, middle managers, academics, key influencers and end-users.
For further information

The World Orphan Drug Congress Europe 2014
Date: 12-14 November, 2014
Venue: Brussels, Belgium

The World Orphan Drug Congress Europe offers partnering opportunities in the orphan and rare disease field. Key networking platforms include: Dedicated networking functions; Privately hosted meeting areas; Online partnering portal and access to free smartphone app; Personal networking managers to assist in meeting scheduling.
For further information


Media, Press & Publications

Launch of the Open Journal of Bioresources

The open access Open Journal of Bioresources published its first issue last July. The product of a collaboration with the Bioresource Research Impact Factor (BRIF) initiative, the journal publishes peer-reviewed articles to help scientists locate bioresources for their research. Providing wider access to information on bioresources benefits the research community, the public and bioresource producers themselves as it promotes data sharing and progress in research.

Editor-in-Chief: Anne Cambon-Thomsen, Inserm - Université Toulouse III, France

Access the journal

Orphan Drugs and Rare Diseases

This book provides biomedical researchers, and anyone working in the field of rare diseases, up-to-date monographs on topics related to orphan drug development, such as regulation, market access, patient advocacy, genetics, biochemistry and medicinal chemistry.

Editors: David C Pryde and Michael Palmer
Format: Hardback
Pages: 350
Price: £175.00
Print ISBN: 978-1-84973-806-4
PDF eISBN: 978-1-78262-420-2
EPUB eISBN: 978-1-78262-290-1
DOI: 10.1039/9781782624202

For further details


OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Antonia Mills
Editors for Scientific Content: Catherine Pouzat, Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Paul Boom, Anna Bucsics, Kate Bushby, Barbara Cagniard, Lorenzo Dagna, Adam Heathfield, Lilian Lau, Yann Le Cam, Jordi Llinares-Garcia, Antoni Monserrat, Charlotte Rodwell, Gerhard Steffes, Till Voigtländer, Jaroslaw Waligora

Orphanet Partner Country Representatives: Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
Orphanet - All rights reserved
Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)