27 October 2015 print
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Editorial
 
ADAPT SMART: a platform for coordinating Medicines Adaptive Pathways to Patients
 

ADAPT SMART is an enabling platform for the coordination of Medicines Adaptive Pathways to Patients (MAPPs) activities that aims to foster access to beneficial for patients with unmet needs, such as rare diseases at the earliest appropriate time in the product life-span in a sustainable fashion. ADAPT SMART is a 30-month project under IMI2 - the second phase of the Innovative Medicines Initiative (IMI) - which will work towards proving and developing workable MAPPs concepts.

IMI2 is a public-private partnership of the European Federation of Pharmaceutical Industries and Associations (EFPIA) and the European Commission. The IMI is working to improve health by speeding up the development of, and patient access to, innovative medicines, particularly in areas where there is an unmet medical or social need. It does this by facilitating collaboration between the key players involved in healthcare research.

Led by the European Medicines Agency (EMA), the this first of a kind coalition will engage relevant stakeholders, bringing together patients, regulators, industry, Health Technology Assessment (HTA) bodies, payers, and academics, to foster the development of MAPPs in Europe. The EMA believes that this will encourage more efficient ways of developing and regulating medicines thus providing patients with more appropriate access to innovative medicines.

Accordingly the ADAPT SMART consortium will do the following:
"Distribute findings, key discoveries and case studies from ongoing or completed MAPPs pilot projects, creating a MAPPs repository of knowledge and opportunities
Identify the scientific challenges and opportunities related to the implementation of MAPPs and foster the aligned understanding of consortium members and their constituents
Support new IMI2 research and innovation actions by facilitating the inclusion of MAPPs enablers, tools and methodologies to address its challenges and opportunities
Conduct horizon scanning and research on key topics to produce actionable advice and recommendations for IMI and other stakeholders to further the broad implementation and adoption of MAPPs"


It will centre its initial work on four key work packages.
Work Package 1: “Evidence generation throughout the entire product life cycle” led by National Institute for Clinical Excellence, AstraZeneca
Work Package 2: “Designing the MAPPs pathway” led by Top Institute Pharma, Bristol-Myers Squibb
Work Package 3: “Decision-making, sustainability and their implications” led by Centre for the Advancement of Sustainable Medical Innovation, Sanofi-Aventis Research and Development (Genzyme)
Work Package 4: “ADAPT SMART Operational Project Management” led by Top Institute Pharma

On September 4th, 2015, a coalition of 90 European healthcare stakeholders from 32 organisations met and talked about collaborative efforts to prove and develop workable MAPPs concepts. In its kick-off session, it was pointed out that one of the key bottlenecks and points of distrust, to be addressed through ADAPT SMART, is the need to involve both patients and prescribers. Yann le Cam, CEO of EURORDIS said, “We are focusing so much on putting the patients at the centre, we’re forgetting that for the products we are addressing the key relationship is between the patient and the doctor at hospital centres, where prescriptions are prescribed and the capture of real world evidence takes place. This will be key to making MAPPs a success.”

Visit the ADAPT SMART website
 


 
Spotlight on...
 
IRDiRC publishes State of Play of Research in the Field of Rare Diseases: 2014-2015
 
IRDiRC has uploaded an enlightening report which includes extensive information on the major developments across the globe in the field of rare diseases. The content of this report will be useful for any stakeholder whether it is to support decisions of policy makers and research funders, or educate the rare diseases community at large of the achievements and of observed trends which shape the future of research and development for rare diseases.

The report has been compiled by means of a systematic survey of published articles, between July 2014 and June 2015, in scientific journals and press releases. It identifies several major policy initiatives that were taken during this period notably, the funding provided by the Canadian Institutes of Health Research and Genome Canada to study models and molecular mechanisms of rare diseases, the joint proposal of the EMA and the FDA on research for new Gaucher disease medication, among others. The report highlights the guidelines and recommendations that are likely to benefit rare disease research. The report also published the outcomes of previous major initiatives such as FORGE, Deciphering Developmental Disorders, FDA’s Orphan Products Grants Program and EMA’s adaptive licensing pilot project. The report also describes useful databases such as Linked2Safety, ClinRegs and ClinGen. It highlights trends that will significantly impact rare disease patients such as involving patients at the EMA for discussions on benefit/risk assessment, importance of patient reported outcomes, among others.
Read the State of Play Report

 


 
Irdirc
 
ORDO and PhenomeCentral receive the “IRDiRC Recommended” label
 
The Orphanet Rare Disease Ontology (ORDO) and PhenomeCentral both received their “IRDiRC Recommended status.” ORDO, a joint initiative between Orphanet and EBI, provides a structured vocabulary for rare diseases capturing relationships between diseases, genes and other relevant features. It integrates nosology, relationships, databases, classifications and connections with other terminologies. This free access platform was commended for providing structured vocabulary for rare diseases, facilitating the computational analysis, supporting various queries and being interoperable with other scientific resources.

PhenomeCentral, a repository for secure data sharing targeted to clinicians and scientists working in the rare disease community, was developed to facilitate the discovery of multiple individuals affected by the same unnamed disorder across partners around the world. This platform was reviewed as a great resource of potential interest to identify new rare diseases and genes and a good online environment to share de-identified data, while ensuring standardization of ontologies and nomenclatures, thus contributing to the collaborations for sharing and comparing data.

IRDiRC Recommended is a quality indicator highlighting tools/ standards/ platforms or guidelines contributing to IRDiRC’s objectives. It focuses on key resources for research communities to accelerate clinical translation. More information about this initiative can be found here.

 


 
EU Policy News
 
EMA
 
EMA’s Committee for Orphan Medicinal Products: Chair and Vice chair re-elected
 
The European Medicines Agency's (EMA’s) has renewed the mandates of Professor Bruno Sepodes and Ms Lesley Greene as chair and vice-chair of Committee for Orphan Medicinal Products (COMP) respectively. Both of their terms have been prolonged until October 2018.
Professor Sepodes, a member of COMP since 2008, has served as a chair of the committee since 2012 and also serves as a Professor of Pharmacology and Pharmacotherapy at the Faculty of Pharmacy of the University of Lisbon. Ms Lesley Greene, a volunteer patient representative for Eurordis and an avid advocate for the rare disease community, joined the COMP in 2009. A testament to EMA’s commitment to involving the civil society in the working of COMP is shown in the vice-chair has always been a representative of a patient organisation.
Read more on the EMA website

 


 
National & International Policy Developments
 
Other European news
 
Prevalence of Friedreich ataxia in Norway
 
Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterised by progressive limb and gait ataxia due to proprioceptive loss. A cross-sectional study of the Friedreich ataxia patients in Norway identified through colleagues in neurological, paediatric and genetic departments, hospital archives searches, patients’ associations, and National Centre for Rare Disorders is published in Orphanet Journal of Rare Diseases. The authors of this study identified twenty-nine Friedreich ataxia patients in Norway, of which 23 were ethnic Norwegian, corresponding to a prevalence ratio of 1:176 000. The highest prevalence was seen in the Norwegian north. According to this study the prevalence of Friedreich ataxia in Norway is lower than in Central Europe (1:20,000 – 1:50,000), but higher than in the last Norwegian report, especially due to migratory influences.
Read the open access article

 
Unmet needs for healthcare and social support services of patients in Norway with Huntington’s disease
 
In the pursuit of providing comprehensive care in Huntington’s disease (HD), a study published in Orphanet Journal of Rare Diseases aims to "identify the level and type of met and unmet needs for health and social care services among patients with HD, and explore associated clinical and socio-demographic factors." The authors studied patients living with HD in the South-Eastern region of Norway across all five disease stages. The authors found that the most substantial gaps in healthcare and social support services were observed in the middle phase (disease stage III) of HD. They also reported that the middle and advanced phase (disease stages IV and V) of HD increased odds of having a high level of total unmet needs by 3.5 times and 1.4 times respectively, compared with the early phase. Similar results were found for level of unmet needs in the domain health and personal care.
Read the open access article

 
Economic evaluation of genetic screening for Lynch syndrome in Germany
 
Lynch syndrome (LS) screening among patients with newly diagnosed colorectal cancer can decrease mortality in their affected first-degree relatives. In Germany, it is not yet in clinical practice and thus the cost-effectiveness of different testing strategies is unknown. The authors of an article published in Genetics in Medicine developed a decision-analytic model to analyse the cost-effectiveness of LS screening from the perspective of the German Statutory Health Insurance system. They studied 22 testing strategies considering family-history assessment, analysis of tumor samples and genetic sequencing were analysed. The authors observed that LS screening provides clinical benefit but at a high cost. The most cost-effective strategy involves family-history assessment with the revised Bethesda criteria, followed by IHC testing, BRAF testing, and genetic sequencing, with an ICER of €77.268 per LYG. They also found that aspirin chemoprevention provides comparatively low additional health effects and improves the cost-effectiveness of screening only slightly.

According to the authors given the uncertainty surrounding its long-term effects and side effects, the economic case for recommending chemoprevention as an adjunct to colonoscopy is rather weak. They recommend that physicians thus might wish to consider other factors such as individual patient preferences when prescribing chemoprevention.
Read the PubMed abstract

 
New Executive Director of Innovative Medicines Initiative
 
The Innovative Medicines Initiative (IMI) has named Pierre Meulien as its new Executive Director. The Innovative Medicines Initiative (IMI) is Europe's largest public-private initiative aiming to speed up the development of better and safer medicines for patients. With a €5 billion budget for the period 2008-2024 it has a research agenda that covers the entire drug development process According to IMI Pierre Meulien brings a wealth of knowledge and experience from both academia, pharmaceutical industry and research funding organisations. Coming from Genome Canada, he has also served as Chief Scientific Officer for Genome British Columbia. Prior to that, he was founding CEO of the Dublin Molecular Medicine Centre (now Molecular Medicine Ireland).
more information

 
Other International News
 
Cost effectiveness of enzyme replacement therapy for Mucopolysaccharidosis: a Brazilian Study
 
An article published in Value in Health – Regional Issues evaluated the frequency of medical interventions in a cohort of patients with mucopolysaccharidosis (MPS) I, II, and VI, which are lysosomal storage disorders on enzyme replacement therapy (ERT) to estimate the impact of direct medical costs associated with the treatment of MPS and compare its frequency with that observed among patients not on ERT in Brazil.

The authors collected data on the number and type of medical appointments, hospital admissions, medications used, and surgical procedures performed per patient through a review of medical records, as were data on ERT. The authors found that overall hospital admissions and surgical procedures per year were higher in the non-ERT group. Thus they concluded that excluding the cost of recombinant enzymes, Brazilian patients with MPS I, II, and VI who receive ERTs undergo fewer medical interventions than do patients in supportive care.
Access the article

 
Guidance Documents and Recommendations
 
Pulmonary hypertension: guidelines for the diagnosis and treatment
 
Consult the Pubmed abstract
 
To read more about "Pulmonary arterial hypertension"
To read more about "Pulmonary hypertension owing to lung disease and/or hypoxia"
To read more about "Chronic thromboembolic pulmonary hypertension"
To read more about "Hypoplastic left heart syndrome"

 
Eur Respir J. ; 46(4):903-75 ; October 2015
 
Primary sclerosing cholangitis: guidelines for clinical practice
 
Consult the Pubmed abstract
 
To read more about "Primary sclerosing cholangitis"

 
Am J Gastroenterol. ; 110(5):646-59 ; May 2015
 
Cutaneous squamous cell carcinoma: guidelines on management
 
Consult the Pubmed abstract
 
Br J Dermatol. ; [Epub ahead of print] ; August 2015
 
Cutaneous neuroendocrine carcinoma: European consensus-based guideline on diagnosis and treatment
 
Consult the Pubmed abstract
 
To read more about "Cutaneous neuroendocrine carcinoma"

 
Eur J Cancer. ; 51(16):2396-403 ; November 2015
 
Thymic epithelial neoplasm: guidelines for diagnosis, treatment and follow-up
 
Consult the Pubmed abstract
 
To read more about "Thymic epithelial neoplasm"

 
Ann Oncol. ; 26 Suppl 5:v40-v55. ; September 2015
 
Bioinformatics, Registries and Data Management
 
Whitepaper on developing a patient registry
 
A white paper published by OpenApp – an IT solutions organisation - aims to outline practical step by step approach to setting up a new registry. According to the paper patient registries constitute key instruments for the development of clinical research, the improvement of patient care, healthcare planning and quality of life outcomes;“If it can be measured, it can be managed”. The whitepaper describes how a registry can evolve into:
- a patient centric portal
- a clinical centre of excellence
- a clinical trials platform.

The whitepaper also describes the registries on rare and chronic diseases developed by them.
Go to the OpenApp Registries webpage

 
Screening and Testing
 
Will the new consent requirements for newborn screening in the United States thwart research
 
Raising concerns over the changes in consent requirements to utilise newborn screening panels for research purposes in the United States, is an article published in Nature. According to the article, the newly signed Newborn Screening Saves Lives Reauthorization Act allots about USD 20 million per year from 2015 to 2019 towards these programmes but updates to the law are stalling research.

The law as it stands today no longer provides researchers ready access to the millions of newborn dried blood samples that have been collected for years and used by scientists to study the severity and prevalence of rare genetic diseases. This is because the act stipulates that research on newborns’ dried blood spots is considered “research carried out on human subjects” and therefore, informed consent must be obtained before a newborn’s blood spot can be used for federally funded research.

According to the article this gets all the more complicated as many parents didn’t know in the first place that newborn screening is being performed and the states store the child’s DNA. Some support the law as they believe that it’s just a false presumption that our private genetic information can be used for public purposes. However, critics counters that the consent requirements are currently being interpreted in a very restrictive manner. The US Office for Human Research Protection (OHRP) now has up to two years to decide the best way to obtain consent for research on this trove of samples that have already been collected.
Access the article

 


 
Ethical, Legal & Social Issues
 
The parent experience of caring for a child with mitochondrial disease
 
A study published in Journal of Pediatric Nursing describes the parent experiences unique to caring for a child with mitochondrial disease. Mitochondrial disease is a spectrum of progressive genetic disorders resulting from dysfunctions of cellular metabolism in the mitochondria that greatly compromise the lives of affected individuals, who are often children. The authors found that participants scored highly on parent adjustment illness-related concerns regarding Guilt and Worry, Sorrow and Anger, Long-term Uncertainty, and Emotional Resources. Scores indicated elevated feelings of stress in terms of both difficulty and frequency.

The results of this study suggest that parents of a child with mitochondrial disease "feel a burden of responsibility that exceeds the typical caregiver role, see their child as fragile, and have concerns about their child's future." According to the authors understanding the "experience of caring for a child with mitochondrial disease can allow nurses and other health care professionals to better assess families’ needs and provide the best possible support."
Read the PubMed abstract

 
Students can be published authors: read more
 
Findacure has partnered with the Orphanet Journal of Rare Diseases (OJRD), for an essay competition for students. The overall winner will have the chance to be published free of charge in this open access, peer-reviewed scientific publication.

An expert panel of scientists, clinicians and patient groups drawn from Findacure’s extensive rare disease network will judge the essays, along with the editor of OJRD.

Apart from having their essay published in OJRD, the winning entry for each question will receive a cash prize of £100, as well as winning the opportunity to attend our scientific conference on Rare Disease Day – the 29th February 2016. Here they will receive their prize and meet key clinicians, researchers, patients, and pharmaceutical companies in the rare disease field.

Entry forms and essays must be submitted by the Friday 13th November and emailed to Rick Thompson (rick@findacure.org.uk). The entry form and rules and regulations can be found at the links below.

For more information email rick@findacure.org.uk.
Read this on the FINDACURE website

 
Findzebra.com
 
Physicians and the general public are increasingly using web-based tools to find answers to medical questions. The field of rare diseases is especially challenging and important as shown by the long delay and many mistakes associated with diagnoses. In this paper we review recent initiatives on the use of web search, social media and data mining in data repositories for medical diagnosis. The authors of an article published in Rare Diseases compared the retrieval accuracy on 56 rare disease cases with known diagnosis for the web search tools google.com, pubmed.gov, omim.org and a search tool developed by the authors named findzebra.com. The authors note that FindZebra has a significantly higher recall than the other 3 search engines.
Read the PubMed abstract

 


 
New Syndromes
 



 
Autosomal recessive congenital cataract and intellectual disability linked to a missense mutation of STX3 in a consanguineous Tunisian family
 
The authors investigated the genetic basis of an autosomal recessive congenital cataract and intellectual disability phenotype in a consanguineous Tunisian family. They identified a missense mutation of STX3 linked to the studied phenotype.
Consult the Pubmed abstract

 
Clin Genet. ; 88(3):283-7 ; September 2015
 
Syndromic form of overgrowth and intellectual disability caused by biallelic HERC1 mutations
 
The authors reported two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Sequencing revealed that biallelic sequence variants in HERC1 might be related to the disease pathogenesis.
Consult the Pubmed abstract

 
Clin Genet. ; 88(4):e1-3 ; October 2015
 


 
New Genes
 



 
Major histocompatibility complex class I deficiency caused by a deficiency of B2M in two Turkish siblings
 
Consult the Pubmed abstract
 
To read more about "Immunodeficiency by defective expression of HLA class 1"

 
J Allergy Clin Immunol. ; 136(2):392-401 ; August 2015
 
Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic duplication of AKT3
 
Consult the Pubmed abstract
 
To read more about "Isolated focal cortical dysplasia"

 
Clin Genet. ; 88(3):241-7 ; September 2015
 
Anosmia linked to a novel X-linked stop mutation in CNGA2 in two brothers
 
Consult the Pubmed abstract
 
To read more about "Isolated congenital anosmia"

 
Clin Genet. ; 88(3):293-6 ; September 2015
 
Leber congenital amaurosis and retinitis pigmentosa caused by mutations in IFT140
 
Consult the Pubmed abstract
 
To read more about "Leber congenital amaurosis"
To read more about "Retinitis pigmentosa"

 
Hum Genet. ; 134(10):1069-78 ; October 2015
 
Hypoplastic left heart syndrome due to compound heterozygous NOTCH1 mutations
 
Consult the Pubmed abstract
 
To read more about "Hypoplastic left heart syndrome"

 
Hum Genet. ; 134(9):1003-11 ; September 2015
 
Polyglucosan myopathy associated with a homozygous novel GYG1 mutation in a female patient
 
Consult the Pubmed abstract
 
To read more about "Polyglucosan body myopathy"

 
Neuromuscul Disord. ; 25(10):780-5 ; October 2015
 
Tongue carcinoma linked to TP53, DST, RNF213, CDKN2A and NOTCH1 mutations
 
Consult the Pubmed abstract
 
Genome Med. ; 7(1):98 ; September 2015
 
X-linked intellectual disability, Shashi type, might be caused by a deletion in RBMX
 
Consult the Pubmed abstract
 
To read more about "X-linked intellectual disability, Shashi type"

 
Clin Genet. ; 88(4):386-90 ; October 2015
 
Charcot-Marie-Tooth disease type 4F: DRP2 mutation as a potential novel genetic cause
 
Consult the Pubmed abstract
 
To read more about "Charcot-Marie-Tooth disease type 4F"

 
Neuromuscul Disord. ; 25(10):786-93 ; October 2015
 
Rett syndrome like features in a patient with a novel mutation in GABRD gene
 
Consult the Pubmed abstract
 
To read more about "Atypical Rett syndrome"

 
Clin Genet. ; 88(3):288-92 ; September 2015
 


 
Research in Action
 



 
Clinical Research
 
Fabry disease: 10 years of agalsidase alfa treatment have beneficial effects for controlling progression and improving symptoms of cardiomyopathy
 
Consult the Pubmed abstract
 
To read more about "Fabry disease"

 
Orphanet J Rare Dis. ; 10:125 ; September 2015
 
Successful combined liver/kidney transplantation from a donor with glycogen storage disease due to acid maltase deficiency
 
Consult the Pubmed abstract
 
To read more about "Glycogen storage disease due to acid maltase deficiency"

 
Mol Genet Metab. ; 115(4):141-4 ; August 2015
 
Wiskott-Aldrich syndrome: gene therapy ameliorates B-cell development and contributes to immunologic improvement
 
Consult the Pubmed abstract
 
To read more about "Wiskott-Aldrich syndrome"

 
J Allergy Clin Immunol. ; 136(3):692-702 ; September 2015
 
Mucocutaneous venous malformations: rapamycin reduces pain, bleeding, lesion size and intravascular coagulopathy
 
Consult the Pubmed abstract
 
To read more about "Mucocutaneous venous malformations"

 
J Clin Invest. ; 125(9):3491-504 ; September 2015
 
Essential thrombocythemia: telomerase inhibitor imetelstat induces rapid and durable hematologic and molecular responses
 
Consult the Pubmed abstract
 
To read more about "Essential thrombocythemia"

 
N Engl J Med. ; 373(10):920-8 ; September 2015
 
Paroxysmal nocturnal hemoglobinuria: eculizumab provides benefit for women during pregnancy
 
Consult the Pubmed abstract
 
To read more about "Paroxysmal nocturnal hemoglobinuria"

 
N Engl J Med. ; 373(11):1032-9 ; September 2015
 
Lysosomal acid lipase deficiency: sebelipase alfa therapy reduces hepatic and lipid abnormalities in children and adults
 
Consult the Pubmed abstract
 
To read more about "Lysosomal acid lipase deficiency"

 
N Engl J Med. ; 373(11):1010-20 ; September 2015
 
Non-immunoglobulin-mediated membranoproliferative glomerulonephritis: successful plasma therapy with corticosteroids and mycophenolate mofetil
 
Consult the Pubmed abstract
 
To read more about "Non-immunoglobulin-mediated membranoproliferative glomerulonephritis"

 
Pediatr Nephrol. ; 30(11):1951-9 ; November 2015
 
Long chain fatty acid oxidation disorder: a retrospective study shows that triheptanoin improves the course of disease
 
Consult the Pubmed abstract
 
Mol Genet Metab. ; 116(1-2):53-60 ; September 2015
 
Pyridoxine-dependent epilepsy: triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction reduces neurotoxicity
 
Consult the Pubmed abstract
 
To read more about "Pyridoxine-dependent epilepsy"

 
Mol Genet Metab. ; 116(1-2):35-43 ; September 2015
 
ATTRV122I amyloidosis: efficacy and safety of patisiran
 
Consult the Pubmed abstract
Consult the French study on Orphanet
Consult the Spanish study on Orphanet

 
To read more about "ATTRV122I amyloidosis"

 
Orphanet J Rare Dis. ; 10:109 ; September 2015
 
Pulmonary arterial hypertension: combination therapy with ambrisentan and taladafil results in lower-risk of clinical-failure events
 
Consult the Pubmed abstract
Consult the Belgian study on Orphanet
Consult the Spanish study on Orphanet

 
To read more about "Pulmonary arterial hypertension"

 
N Engl J Med. ; 373(9):834-44 ; August 2015
 
Cystinosis: excellent long-term outcomes of renal transplantation
 
Consult the Pubmed abstract
 
To read more about "Cystinosis"

 
Orphanet J Rare Dis. ; 10:90 ; July 2015
 
American trypanosomiasis: trypanocidal therapy with benznidazole does not reduce cardiac deterioration
 
Consult the Pubmed abstract
 
To read more about "American trypanosomiasis"

 
N Engl J Med. ; 373(14):1295-306 ; October 2015
 
Dengue fever: mitigated results with a vaccine in Asian-Pacific and Latin American countries
 
Consult the Pubmed abstract
 
To read more about "Dengue fever"

 
N Engl J Med. ; 373(13):1195-206 ; September 2015
 
Tuberous sclerosis: rapamycin reduces subependymal giant cell astrocytoma and kidney angiomyolipoma but not liver angiomyolipomas
 
Consult the Pubmed abstract
 
To read more about "Tuberous sclerosis"

 
Orphanet J Rare Dis. ; 10:95 ; August 2015
 
Metachromatic leukodystrophy: hematopoietic stem cell transplantation is a viable treatment option in selected cases
 
Consult the Pubmed abstract
 
To read more about "Metachromatic leukodystrophy"

 
Orphanet J Rare Dis. ; 10:94 ; August 2015
 
B-cell chronic lymphocytic leukemia: disease eradication may be possible in some patients treated with chimeric antigen receptor-modified T cells
 
Consult the Pubmed abstract
 
To read more about "B-cell chronic lymphocytic leukemia"

 
Sci Transl Med. ; 7(303):303ra139 ; September 2015
 
Thalassemia should be considered a risk factor for developing dementia in Taiwan population
 
Consult the Pubmed abstract
 
To read more about "Alpha-thalassemia"
To read more about "Beta-thalassemia"

 
Eur J Intern Med. ; 26(7):554-9 ; September 2015
 
Therapeutic Approaches
 

 
Hemophilia A: functional correction of large chromosomal rearrangements in patient-derived induced pluripotent stem cells
 
Consult the Pubmed abstract
 
To read more about "Hemophilia A"

 
Cell Stem Cell ; 17(2):213-20 ; August 2015
 
Infantile neuronal ceroid lipofuscinosis: intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model
 
Consult the Pubmed abstract
 
To read more about "Infantile neuronal ceroid lipofuscinosis"

 
Mol Genet Metab. ; 116(1-2):98-105 ; September 2015
 
Duchenne muscular dystrophy: naproxcinod shows significant advantages over naproxen in the mdx mouse model
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Orphanet J Rare Dis. ; 10:101 ; August 2015
 
Duchenne muscular dystrophy: voluntary physical activity initiated at age 7 months increases the absolute maximal force of skeletal muscle in female mdx mice
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Muscle Nerve ; 52(5):788-94 ; November 2015
 
Spinal muscular atrophy: D156844/follistatin combination treatment improves the survival of model mice compared to follistatin treatment alone, but not compared to D156844 alone
 
Consult the Pubmed abstract
 
To read more about "Proximal spinal muscular atrophy type 1"
To read more about "Proximal spinal muscular atrophy type 2"
To read more about "Proximal spinal muscular atrophy type 3"
To read more about "Proximal spinal muscular atrophy type 4"

 
Neuromuscul Disord. ; 25(9):699-705 ; September 2015
 
VSV-EBOV vaccine rapidly protects macaques against infection with the 2014/15 Ebola virus outbreak strain
 
Consult the Pubmed abstract
 
To read more about "Ebola hemorrhagic fever"

 
Science ; 349(6249):739-42 ; August 2015
 
Acute myeloid leukaemia: antibodies targeting human IL1RAP (IL1R3) show therapeutic effects in xenograft models
 
Consult the Pubmed abstract
 
To read more about "Acute myeloid leukemia"

 
Proc Natl Acad Sci U S A. ; 112(34):10786-91 ; August 2015
 
Myelofibrosis with myeloid metaplasia: interleukin-10 inhibits autonomous myelopoiesis in vitro
 
Consult the Pubmed abstract
 
To read more about "Myelofibrosis with myeloid metaplasia"

 
Eur J Haematol. ; 95(3):239-43 ; September 2015
 
Review on sheep as phenotypically relevant model of human genetic diseases
 
Consult the Pubmed abstract
 
To read more about "Gaucher disease"
To read more about "Tay-Sachs disease"
To read more about "Juvenile neuronal ceroid lipofuscinosis"
To read more about "Meckel syndrome"

 
Orphanet J Rare Dis. ; 10:107 ; September 2015
 
Inherited retinal dystrophies: review on pros and cons of vertebrate animal models
 
Consult the Pubmed abstract
 
Prog Retin Eye Res. ; 48:137-59 ; September 2015
 
Neurodegenerative disease: review on Drosophila as an in vivo model
 
Consult the Pubmed abstract
 
Genetics ; 201(2):377-402 ; October 2015
 
Pancreatic cancer: review on stem cells
 
Consult the Pubmed abstract
 
Stem Cells ; 33(10):2893-902 ; October 2015
 
Diagnostic Approaches
 

 
Sickle cell anaemia: validation of the Sickle SCAN test developed to diagnose the disease at the point of care without electricity or advanced equipment
 
Consult the Pubmed abstract
 
To read more about "Sickle cell anemia"

 
BMC Med. ; 13:225 ; September 2015
 
Osteogenesis imperfecta: urinary pyridinoline cross-links lysyl-pyridinoline and hydroxylysyl-pyridinoline as a promising, time- and cost-effective biomarker
 
Consult the Pubmed abstract
 
To read more about "Osteogenesis imperfecta"

 
Orphanet J Rare Dis. ; 10:104 ; August 2015
 
Mucopolysaccharidosis type 4: non-invasive pulmonary function tests
 
Consult the Pubmed abstract
 
To read more about "Mucopolysaccharidosis type 4"

 
Mol Genet Metab. ; 115(4):186-92 ; August 2015
 
Dopa-responsive dystonia due to sepiapterin reductase deficiency: urine sepiapterin excretion as a new diagnostic marker
 
Consult the Pubmed abstract
 
To read more about "Dopa-responsive dystonia due to sepiapterin reductase deficiency"

 
Mol Genet Metab. ; 115(4):157-60 ; August 2015
 
Dermatomyositis: review on immunological biomarkers
 
Consult the Pubmed abstract
 
To read more about "Dermatomyositis"

 
Curr Rheumatol Rep. ; 17(11):68 ; November 2015
 
Myositis: review on differential diagnosis
 
Consult the Pubmed abstract
 
To read more about "Inclusion body myositis"
To read more about "Facioscapulohumeral dystrophy"
To read more about "Miyoshi myopathy"
To read more about "Glycogen storage disease due to muscle glycogen phosphorylase deficiency"
To read more about "Glycogen storage disease due to acid maltase deficiency"

 
Curr Rheumatol Rep. ; 17(10):541 ; October 2015
 
Myasthenia gravis and Lambert-Eaton myasthenic syndrome: electrodiagnostic testing is useful for diagnosis
 
Consult the Pubmed abstract
 
To read more about "Myasthenia gravis"
To read more about "Lambert-Eaton myasthenic syndrome"

 
Muscle Nerve ; 52(3):455-62 ; September 2015
 
Idiopathic inflammatory myopathies: review on the role of MRI in diagnosis
 
Consult the Pubmed abstract
 
Curr Rheumatol Rep. ; 17(11):67 ; November 2015
 
Congenital brain and spinal cord malformations: review on cutaneous markers
 
Consult the Pubmed abstract
 
Pediatrics ; 136(4):e1105-19 ; October 2015
 
Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome: exome sequencing is unlikely to be a useful diagnostic test
 
Consult the Pubmed abstract
 
To read more about "Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome"

 
Orphanet J Rare Dis. ; 10:103 ; August 2015
 
Leukaemia: review on the diagnosis
 
Consult the Pubmed abstract
 
Eur J Haematol. ; 95(4):365-73 ; October 2015
 
A positive respiratory viral polymerase chain reaction or presence of respiratory symptoms should not be used to exclude the diagnosis of Kawasaki disease
 
Consult the Pubmed abstract
 
To read more about "Kawasaki disease"

 
Pediatrics ; 136(3):e609-14 ; September 2015
 
Neuroblastoma: review on 123I-MIBG scintigraphy and 18F-FDG-PET imaging for diagnosis
 
Consult the Pubmed abstract
 
To read more about "Neuroblastoma"

 
Cochrane Database Syst Rev. ; 9:CD009263 ; September 2015
 


 
Patient Management and Therapy
 
Cystic fibrosis: two reviews on the treatment
 
Consult the Pubmed abstract
Consult the abstract

 
To read more about "Cystic fibrosis"

 
Genome Med. ; 7(1):101 ; September 2015
Orphan Drugs: Research and Reviews ; 5 61-68 ; 2015
 
Cystic fibrosis: vaccines against Pseudomonas aeruginosa cannot be recommended
 
Consult the Pubmed abstract
 
To read more about "Cystic fibrosis"

 
Cochrane Database Syst Rev. ; 8:CD001399 ; August 2015
 
Sickle cell anaemia: Cochrane review on splenectomy versus conservative management for acute crises
 
Consult the Pubmed abstract
 
To read more about "Sickle cell anemia"

 
Cochrane Database Syst Rev. ; 9:CD003425 ; September 2015
 
Berger disease: Cochrane review on immunosuppressive agents for the treatment
 
Consult the Pubmed abstract
 
To read more about "Berger disease"

 
Cochrane Database Syst Rev. ; 8:CD003965 ; August 2015
 
Chronic inflammatory demyelinating polyneuropathy: Cochrane review on plasma exchange
 
Consult the Pubmed abstract
 
To read more about "Chronic inflammatory demyelinating polyneuropathy"

 
Cochrane Database Syst Rev. ; 8:CD003906 ; August 2015
 
Duchenne muscular dystrophy: two reviews on the treatment and dietary approach
 
Consult the abstract
Consult the Pubmed abstract

 
To read more about "Duchenne muscular dystrophy"

 
Orphan Drugs: Research and Reviews ; 5 51-60 ; 2015
Sci Transl Med. ; 7(299):299rv4 ; August 2015
 
Paroxysmal nocturnal haemoglobinuria: two reviews
 
Consult the abstract
Consult the Pubmed abstract

 
To read more about "Paroxysmal nocturnal hemoglobinuria"

 
Orphan Drugs: Research and Reviews ; 5 75-81 ; 2015
Eur J Haematol. ; 95(3):190-8 ; September 2015
 
Primary biliary cirrhosis: review on orphan drugs in development
 
Consult the abstract
 
To read more about "Primary biliary cirrhosis"

 
Orphan Drugs: Research and Reviews ; 5 83-97 ; 2015
 
Mitochondrial diseases: review on mutations
 
Consult the Pubmed abstract
 
Science ; 349(6255):1494-9 ; September 2015
 
Isolated hereditary hair loss disorders: review on genetics
 
Consult the Pubmed abstract
 
Clin Genet. ; 88(3):203-12 ; September 2015
 
Mendelian disorders: review on the epigenetic machinery
 
Consult the Pubmed abstract
 
Genome Res. ; 25(10):1473-81 ; October 2015
 
Paediatric rheumatology: review on biologic infections
 
Consult the Pubmed abstract
 
Curr Rheumatol Rep. ; 17(11):66 ; November 2015
 
Pancreatic cancer: review on genomics
 
Consult the Pubmed abstract
 
To read more about "Familial pancreatic carcinoma"

 
Clin Genet. ; 88(3):213-9 ; September 2015
 
Ear-patella-short stature syndrome: a review
 
Consult the Pubmed abstract
 
To read more about "Ear-patella-short stature syndrome"

 
Orphanet J Rare Dis. ; 10:114 ; September 2015
 
Idiopathic achalasia: a review
 
Consult the Pubmed abstract
 
To read more about "Idiopathic achalasia"

 
Orphanet J Rare Dis. ; 10:89 ; July 2015
 
Congenital reticular ichthyosiform erythroderma: a review
 
Consult the Pubmed abstract
 
To read more about "Congenital reticular ichthyosiform erythroderma"

 
Orphanet J Rare Dis. ; 10:115 ; September 2015
 
Congenital tracheal stenosis: review on the management
 
Consult the Pubmed abstract
 
To read more about "Congenital tracheal stenosis"

 
Pediatrics ; [Epub ahead of print] ; August 2015
 
Primary erythermalgia: a review
 
Consult the Pubmed abstract
 
To read more about "Primary erythermalgia"

 
Orphanet J Rare Dis. ; 10:127 ; September 2015
 
MELAS: review on clinical manifestations, pathogenesis and treatment options
 
Consult the Pubmed abstract
 
To read more about "MELAS"

 
Mol Genet Metab. ; 116(1-2):4-12 ; September 2015
 
Balkan endemic nephropathy: a review
 
Consult the article
 
The Journal of Rare Disorders ; Vol. 3, Issue 2 ; 2015The Journal of Rare Disorders ; Vol. 3, Issue 2 ; 2015
 
Collagen type III glomerulopathy: a review
 
Consult the Pubmed abstract
 
To read more about "Collagen type III glomerulopathy"

 
Clin Kidney J. ; 8(5):543-7 ; October 2015
 
ATTRV122I amyloidosis: a review
 
Consult the Pubmed abstract
 
To read more about "ATTRV122I amyloidosis"

 
Cardiovascular Regenerative Medicine ; [Epub ahead of print] ; 2015
 
Malignant hyperthermia: a review
 
Consult the Pubmed abstract
 
To read more about "Malignant hyperthermia"

 
Orphanet J Rare Dis. ; 10:93 ; August 2015
 
Pseudoxanthoma elasticum: review on clinical manifestations, histopathology and perspectives of treatment
 
Consult the Pubmed abstract
 
To read more about "Pseudoxanthoma elasticum"

 
Intractable Rare Dis Res. ; 4(3):113-22 ; August 2015
 
American trypanosomiasis: a review
 
Consult the Pubmed abstract
 
To read more about "American trypanosomiasis"

 
N Engl J Med. ; 373(5):456-66 ; July 2015
 
Paediatric chordomas: a review
 
Consult the Pubmed abstract
 
To read more about "Chordoma"

 
Orphanet J Rare Dis. ; 10(1):116   ; September 2015
 
Infantile haemangioma: review on diagnosis and management
 
Consult the Pubmed abstract
 
Pediatrics ; 136(4):786-91 ; October 2015
 
Palmoplantar keratoderma-esophageal carcinoma syndrome: review on diagnosis, management and molecular mechanisms
 
Consult the Pubmed abstract
 
To read more about "Palmoplantar keratoderma-esophageal carcinoma syndrome"

 
Orphanet J Rare Dis. ; 10:126 ; September 2015
 
Acute myeloid leukaemia: a review
 
Consult the Pubmed abstract
 
To read more about "Acute myeloid leukemia"

 
N Engl J Med. ; 373(12):1136-52 ; September 2015
 
T-cell prolymphocytic leukaemia: a review
 
Consult the Pubmed abstract
 
To read more about "T-cell prolymphocytic leukemia"

 
Eur J Haematol. ; 95(3):199-210 ; September 2015
 
Special issue of ‘Biochimica et Biophysica Acta’ on juvenile neuronal ceroid lipofuscinosis
 
Read the special issue
 
To read more about "Juvenile neuronal ceroid lipofuscinosis"

 
Biochimica et Biophysica Acta (Part B) ; 1852(10):2235-2338 ; October 2015
 
Two new and eighteen 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. Two new GeneReviews have been published for:
Nuclear gene-encoded Leigh syndrome
Primary hyperoxaluria type 3

Eighteen updated GeneReviews have been published for:
Hirschsprung disease
Nevoid basal cell carcinoma syndrome
Primary trimethylaminuria
Dilated cardiomyopathy
MUTYH-associated polyposis
Spinocerebellar ataxia type 3
Celiac disease
FLNA-related periventricular nodular heterotopia
HFE-associated hereditary hemochromatosis
Hereditary sensory neuropathy type IA
Myotonic dystrophy type 1
Primary ciliary dyskinesia
Tuberous sclerosis complex
Autosomal dominant partial epilepsy with auditory features
Charcot-Marie-Tooth neuropathy type 4
DFNA2 non-syndromic hearing loss
SHOX deficiency disorders
Wolf-Hirschhorn syndrome

 


 
Orphan Drugs
 
Creating a sustainable environment for orphan drug development
 
As the debate rages on the price tags associated with orphan drugs an opinion presented in The Journal of Clinical Pharmacology discusses whether the high price associated with them are feasible. The authors discusses the legislations passed in the United States (US), European Union (EU), Japan and Australia which has led to orphan drug development to be financially viable with more marketing authorisations in the subsequent years. The authors make a special mention of the 21st Century Cures Act and the expedited regulatory programmes in the United States, which promises to expedite drug development including those for orphan drugs.

According to the authors the approval rates for orphan drugs in the US and EU are low and are less than 20% among those receiving orphan drug designations. Most of the designations and approvals are for "ultrarare diseases with limited market potential and any improvement in disease stratification of “orphan subset” will enhance treatment outcome and cost effectiveness, and should be encouraged."

The authors are aware of the public apprehension about the high pricing of orphan drugs and the fact that the high drug prices associated with low cost-effectiveness could limit reimbursement. Even then the author believes the high cost could be worth the potential medical breakthrough. They ask for public support for the development of orphan drugs, and a system which will ensure sufficient return of investment.
Access the article

 
The price wars: Alexion sues Canada over Soliris price cut
 
Canada has been battling with Alexion over the price of Soliris - a rare disease drug that is currently the costliest in the world. It is used to treat a couple of rare blood diseases that can kill red blood cells and cause anaemia and lead to organ failure. Canada argues that the drug costs USD 669,000 in the U.S. compared to CAD 700,000 per patient per year. Canada wants Alexion to repay the price difference to the government for those provinces in Canada that reimburse this drug. All provinces in Canada do not reimburse this drug due to its prohibitive cost. In a preemptive move, Alexion has sued regulators to prevent Canada from reducing the price, stating the difference in exchange rate reflecting the difference in price. They have also argued that the Canadian agency does not have the authority to force it to lower its price on its drug.

The high cost of Soliris has been questioned by payers before. NICE initially declined to cover the drug until Alexion provided details to justify its cost but relented on public pressure even without getting what it considered a full disclosure from the company.
Read more on CBC news

 
AFM-Telethon launches a pharmaceutical development centre for the production of gene and cell therapies
 
AFM-Telethon, and the investment fund "SPI – Agencies Industrial Projects", managed by Bpifrance, have joined forces with the aim of creating Europe's largest development centre for the production of gene and cell therapies. This project aims both to create an industrial-scale production platform what will lead the development of gene and cell therapies and help carry it to completion. This new centre aims to meet the needs of many current AFM-Telethon laboratories and those of numerous academic and biotech industry actors by offering a platform for the production of their therapies, whether they are for clinical trials or post-marketing diffusion.

As such, its objective is to reinforce the efforts of the AFM-Telethon towards providing therapeutic solutions for rare and common diseases patients, by ensuring the large-scale production of drugs and bring them to commercialisation. AFM-Telethon will have a majority share in the company that has the capital required to launch its production plant and the development of innovative bio-therapeutics. The investment of AFM-Telethon’s partner, SPI, will allow for the acceleration of industrialisation of the required technology.

For the full press message (in French), click here

 
Regulatory News
 
Rethinking the regulatory framework for off-label drug use in France
 
The widespread use of off-label drug use especially in the case of certain rare diseases has been a topic that many governments are trying to bring under regulatory control. France is the only EU member state to implement a regulatory framework - Temporary Recommendations for Use (RTUs)- for controlling off-label drug . A paper published in Health Policy has described the rigorous process of obtaining RTUs, and the progress and pitfalls of this framework. Formulated in 2012 “to regulate the use of pharmaceuticals outside the scope of a marketing authorisation (MA) by establishing a framework for patient monitoring and data collection”, some drugs catering to the rare diseases are covered by RTUs.

However, the authors also highlight that this framework has already been amended twice since, quite unexpectedly. They highlight the ambiguity in the position taken by all stakeholders wherein both health authorities and pharmas should aim to limit off-label use, but is not the case in reality. The authors explain that RTU implementation can generate financial savings for the national health insurance and off-label drug use can increase pharmaceutical revenue.

The paper highlights the case of bevacizumab (by Roche)/ranibizumab (by Novartis) where pharmaceutical companies colluded to benefit from the reimbursement provisions. According to the authors, Roche purposefully did not extend the indication of bevacizumab to cover age-related macular degeneration, even though it is clinically superior to ranibizumab. This is possibly due to Roches’ stake in both drugs, with ranibizumab being 30 times more expensive and reimbursed by the French social security system. France has gone ahead and filed an RTU for bevacizumab, even though Roche resists providing accountability for this drug. Consequently, France amended the stipulations for these “economic RTU’s” as well as extended the provision of RTUs beyond three years.

The authors mainly recommend creating a national joint off-label committee in France to, apart from implementing and monitoring RTUs, supervise and provide general support and communication tools. The authors suggest that these teething troubles must be addressed before taking RTUs to the European Union level.
Read the open access article

 
Positive opinions recommending orphan designation at the COMP meeting
 
The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted sixteen positive opinions issued at the October 2015COMP meeting for:

- treatment of focal segmental glomerulosclerosis
- treatment of acute lymphoblastic leukaemia
- treatment of chronic lymphocytic leukaemia / small lymphocytic lymphoma
- treatment of nasopharyngeal carcinoma
- prevention of graft-versus-host disease
- treatment of Middle East respiratory syndrome
- treatment of idiopathic hypersomnia
- treatment of blastic plasmacytoid dendritic cell neoplasm
- treatment of ovarian cancer
- treatment of Wilson's disease
- treatment of Leber’s congenital amaurosis
- treatment of achromatopsia caused by mutations in the CNGA3 gene
- treatment of follicular lymphoma
- treatment of acute myeloid leukaemia
- treatment of neuroblastoma
- treatment of pyruvate dehydrogenase complex deficiency

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

 


 
Grants
 

 
Medical Research Grant Application Guidelines : Progeria Research Foundation
 
The foundation is proving several grants such as Innovator Awards, Established Innovator Award, and Specialty Award. Details are provided on their website
 
AFM Telethon: Call for proposals
 
Several call for proposals are being made available by AFM Telethon. They have published a call for proposals for Spinal Muscular Atrophy and Collagen VI Call for Projects.
For further information

 
Neuronal Ceroid Lipofuscinosis Research Award
 
For the sixth time the Foundation announces and donates the NCL Research Award. They invite medical and basic science researchers worldwide to submit innovative project proposals that are either clinically oriented or cover translational aspects of CLN3 biology which can contribute to finding a cure for juvenile NCL. We particularly encourage also submissions from scientists working in related biomedical areas such as other lysosomal storage diseases, endolysosomal cell biology and neurodegenerative disorders. Together with the existing NCL research community our goal is to move promising therapeutic avenues forward to help JNCL patients. The grant (50,000 euros) serves as seed money supporting a one year postdoctoral fellowship to help young scientists progressing CLN3 research in academia or industry. Deadline: October 31, 2015
For further information

 
BMBF Funding initiative: innovative stem cell technologies for personalized medicine
 
The German Federal Ministry for Education and Research (BMBF) has announced a new funding initiative for the development and use of innovative stem cell technologies. The initiative aims at funding interdisciplinary research collaborations which are geared towards unlocking the full potential of novel reprogramming technologies and iPS cells for practical use. For this, a pooling of expertise from applied basic and clinical research is needed, for example of research groups from the life sciences, medicine, pharmacology and relevant technical disciplines. The funding can be applied for in two modules: "therapy" and "model & test systems". Deadline for applications is 30 November 2015.
More information (in German)

 
8th Call for SMA research proposals
 
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: 9 December 2015
For further information

 
Call for Myotonic Dystrophy research
 
AFM-Téléthon is pleased to announce a new international Call for Myotonic Dystrophy research projects aimed at developing innovative therapeutic approaches in this field. Application deadline is December 18, 2015. Please follow the proposal instructions on the AFM-Téléthon website via this link
 


 
Partnersearch, Job Opportunities
 
ECRIN ERIC job vacancies
 
ECRIN‐Eric is currently in the process of recruiting for its office based in Paris (France) a Capacity Project Manager, an Operations Project Manager and a Secretary. This is a unique opportunity for a motivated individual who wishes to further develop his/her career in biomedical research and his/her experience of multinational research projects. The ECRIN Capacity Project Manager will be in charge of the project management for the structuring projects with ECRIN involvement.
For further information

 
Civil Society representatives: Call for expression of interest is open for the EMA Management Board
 
Civil Society representatives: Call for expression of interest is open for the EMA Management Board The Commission is launching a selection procedure to appoint the Civil Society representatives in the Management Board of the European Medicines Agency (EMA), in London. Four members from Civil Society will be appointed: two members representing patients’ organisations, one member representing doctors’ organisations and one member representing veterinarians’ organisations. The term of office of the current members expires on 20 March 2016.
For further information

 


 
Courses & Educational Initiatives
 

 
Courses offered by Recordati Rare Diseases Foundation
 
The Recordati Rare Diseases Foundation is offering five courses planned for next year. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrd-foundation.org/www.rrd-foundation.org.
Neurotransmitter focus course
Date: 9-10 November 2015
Venue: Venice, Italy

in partnership with University Hospital for Child and Adolescent Medicine of Heidelberg and University Hospital of Padua. Registration deadline: 26th September

 
EMA workshop on: demonstrating significant benefit of orphan medicines
 
Date: 7 December, 2015
Venue: London, United Kingdom

The European Medicines Agency (EMA) is organising a workshop on 7 December 2015 to discuss the approach that should be followed by medicine developers to demonstrate the significant benefit of an orphan medicine over existing treatments. Demonstrating a significant benefit is one of the criteria medicines that treat rare diseases must fulfil to benefit from 10 years of market exclusivity once they have been authorised.

The workshop will bring together medicine developers, regulators, healthcare professionals, academia, patients, health technology assessment bodies and healthcare payers who need to register by 31 October 2015 if they wish to participate. The workshop will also be broadcast live.
For further information

 
European Cytogenetesists Association
 
Date: February/March of each year
Venue: Nimes, France

This course is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co-organized by E.C.A. and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. An application for CME points will also be made for 2016.
For further information

 
EMA workshop on pre-licencing activities
 
Date: 9 March, 2016
Venue: Barcelona, Spain

In collaboration with EMA, E-Rare will organize a workshop dedicated to Interactions between EMA and RD researchers on pre-licensing activities. The workshop will take place from 09:00 to 16:00 on the 9 of March 2015 in Barcelona, before the official start of the RE(ACT) meeting. It will be open to all researchers and interested stakeholders.

The places for Face-to-face meetings with EMA officers are limited! If you would like to participate, please send an email to juliane.halftermeyer@agencerecherche.fr for further instructions.

 
2nd International Course: Rare Best practices
 
Date: 3-4 December, 2015
Venue: Rome (Italy)

The course intends to promote guideline quality standards and RARE Best practices’ outputs across European Member States and to support the upcoming European Reference Networks and Centres of Expertise in the development of their capacity to produce and use health care guidelines on rare diseases.

The course will provide participants with the opportunity to acquire skills necessary to appraise health care guidelines for rare diseases by using AGREE II, the international tool to assess the quality and reporting of health care guidelines, also actively involving them in the appraisal work foreseen in the project.
For Further information
Visit the Rare Best Practices website

 


 
What's on Where?
 

 
The AANEM Annual Meeting
 
Date: 28 -31 October, 2015
Venue: Hawaii, United States

The AANEM Annual Meeting is the premier educational event for those involved in neuromuscular (NM) and electrodiagnostic (EDX) medicine. Earn over 30 continuing education credits through interactive workshops, lively discussions, and engaging sessions.
For further information

 
4th European Congress on Rett Syndrome
 
Date: 30 October – 1 November, 2015
Venue: Rome, Italy

For further information

 
First European Congress on Hereditary ATTR amyloidosis ECATTR
 
Date: 2-3 November, 2015
Venue: Paris, France

The European Congress for HATTR will allow the meeting of the specialists of all European countries and the sharing of experience. The effort will be to further improve the early diagnosis of sporadic cases and genetic carriers, to review anti-amyloid treatments and clinical trials, to improve genetic counselling.
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

 
Sixth Croatian Congress of Human Genetics
 
Date: 5-7 November, 2015
Venue: Zagreb, Croatia

This conference will be an opportunity for education of the young interested in new achievements in various areas of genetics – clinical genetics, cytogenetics, molecular genetics and anthropology, and also to highlight the importance of prevention, diagnostics and treatment of rare diseases.
For further information

 
ISPOR 18th Annual European Congress
 
Date: 7-11 November, 2015
Venue: Milan, Italy

A conference on impacting health decision making with outcomes research: closing the gap
For further information

 
16th International Conference on Human Genome Variation and Complex Genome Analysis
 
Date: 11-13 November, 2015
Venue: California, United States

HGV2015 will bring together approximately 180 delegates (selected on the basis of their abstract submission) in a workshop-style atmosphere, with 25 internationally recognized speakers.
For further information

 
Statistical analysis of massive genomic data
 
Date: 19-20 November, 2015
Venue: Evry, France

This two-day cross-disciplinary conference will bring together biologists, geneticists, clinicians, bioinformaticians and statisticians in order to discuss emerging challenges raised by the analysis of high-throughput genomic data, and present dedicated innovative approaches.
For further information

 
The Rett Syndrome Journey: Pathways to Follow
 
Date: 19-21 November, 2015
Venue: Victoria, Australia

‘Pathways to Follow’ on the journey with Rett syndrome will be explored in such areas as communication, health, therapies, education, equipment, caring for the carer, Commonwealth government, trusts, siblings, adulthood, family and equipment, to name just a few.
For further information

 
6th European Symposium on rare anaemias - 1st Dutch-Belgian meeting for patients and health professionals
 
Date: 21-22 November, 2015
Venue: Amsterdam, The Netherlands

The 6th European Symposium on Rare Anaemias is an activity of the ENERCA project which aims to disseminate up-to-date knowledge and increase the public awareness about congenital and rare anaemias. This year, transversal topics centered on common medical problems of patients with sickle cell, thalassaemia and other forms of haemolytic anaemia will be one of the key points of the symposium.
For further information

 
International Conference on Sanfilippo Syndrome and related Lysosmal Storage Diseases
 
Date: 26 – 28 November, 2015
Venue: Geneva, Switzerland

The aim of this second unique forum is to bring together some 200 participants from around the world, including scientists and clinicians, start-up leaders, and families of patients groups, to inform and strengthen exchange and cooperation.
For further information

 
Clinical trials in small populations : Methodological challenges and solutions
 
Date: 30th November - 1 December 2015
Venue: London, UK

The movement towards genetically tailored treatment regimens will further increase the number of small populations for whom new treatments are sought. This two day meeting will bring together researchers and practitioners to discuss state of the art methods for trials in small populations.
For further information

 
CDDF-SIOPE-ENCCA-ITCC 4th Paediatric Oncology Conference
 
Date: 20-21 January, 2016
Venue: Brussels, Belgium

This is the fourth meeting of an ongoing series of biennial conferences aiming at promoting progress in the field of paediatric oncology drug development through input from all concerned stakeholders: regulatory bodies, academia, the pharmaceutical industry, parents and policymakers.
For further information

 
BPSU Rare Disease Conference 2016
 
Date: 23 February, 2016
Venue: Birmingham, United Kingdom

The conference will explore the theme ‘Rare disease in paediatrics – from birth to transition’. It will centre on the child's journey from diagnosis through transition and end of life care.
For further information

 
Clinical Innovation & Outsourcing
 
Date: 9-10 March, 2016
Venue: London, UK

Clinical Outsourcing & Partnering World is the largest industry event focusing on the strategic and operational considerations in clinical outsourcing. It is a place where serious business contacts are made. Attended by senior decision makers, it's a platform which facilitates meetings between your sales force and prospects and it's a cost effective sponsorship package with year round advantage.
For further information

 
The RE(ACT) Congress
 
Date: 9-10 March, 2016
Venue: Barcelona, Spain

The congress aims to bring together world leaders and young scientist from a variety of breaking through scientific field to present cutting edge research, to discuss results and to exchange ideas. Moreover, many patients and patient organization, which are committed in research, will be present to share their experience.
For further information

 
MYOLOGY 2016 Fifth International Congress of Myology
 
Date: 14-18 March, 2016
Venue: Lyon, France

Held for the first time in 2000, MYOLOGY has become a unique opportunity for international experts in the field to exchange and confront the emerging therapeutic approaches, but also to share the first clinical results. The science and medicine of muscle have reached a new milestone. In Myology 2016, no doubt there will be new results, new breakthroughs to share all together.
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

 
5th International Conference on Myelodysplastic Syndromes
 
Date: 14-16 April, 2016
Venue: Estoril, Portugal

For further information
 
8th Alstrom Syndrome International Conference
 
Date: 12-16 May, 2016
Venue: Massachusetts, USA

This international conference will have a scientific symposium for clinicians and researchers as well as sessions for parents, caretakers and patient organisations.
For further information

 
17th EMSOS Nurse and allied professional Group Meeting
 
Date: 12-16 May, 2016
Venue: Massachusetts, USA

The meeting will be focussing on Ewing sarcoma, margins, pelvic tumours, targeted therapy; open sessions will offer the opportunity to report and discuss the latest results in all fields.
For further information

 
European Association of Centres of Medical Ethics Conference
 
Date: 8 -10 September, 2016
Venue: Leuven, Belgium

The focus of this year’s conference is on a variety of highly relevant ethical issues in health care:
 Organizational Ethics in Health Care: Principles, Cases and Practical Solutions
 Ethical Issues in Care for Older Persons
 Ethical, Legal and Social Developments in Human Genomics
 Ethics and Integrity in Research
For further information

 
2nd International Conference on New Concepts in BCell Malignancies
 
Date: 9-11 September, 2016
Venue: Estoril, Portugal

This conference aims at improving the understanding of the:
• principles and current developments of molecular pathogenesis of Bcell disorders
• the range of prognostic markers and their impact in specific clinical situations
• evolution of treatment principles in Bcell malignancies
• development of promising new agents targeting disease biology
• to improve understanding of key pathways driving expansion of normal vs. neoplastic Bcells
For further information

 
9th ISNS International meeting/10th ISNS European Regional meeting
 
Date: 11-14 September, 2016
Venue: The Hague, the Netherlands

The conference will aid the sharing of neonatal screening experiences for congenital metabolic disorders, its clinical diagnostics and follow-up, and will facilitate learning from other experiences. The programme will consist of plenary lectures, oral presentations and poster sessions and will be attractive for professionals, patient/advocacy groups, policy makers and industrial partners. The programme will include evaluation of performance of neonatal screening systems and strategies for improvement.
For further information

 
5th World Congress of Clinical Safety
 
Date: 21-23 September, 2016
Venue: Massachusetts, USA

The Boston Congress is organized by IARMM to improve and promote high advanced safe and clean science and technology. The congress covers a wide range of safety topics, such as clinical safety (patient safety, medication safety, medical device safety), infectious disease outbreak, disaster healthcare, clinical crisis governance, environmental helth & safety, food safety, and other related safety subjects.
For further information

 
ESID European Society for Immunodeficiencies: Biennial meeting
 
Date: 21-24 September, 2016
Venue: Barcelona, Spain

Sessions at this meeting will be devoted to understanding primary immunodeficiencies and their clinical aspects.
For further information


 


 
OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANTE (RD-ACTION Joint Action N° 677024) and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Kate Bushby, Ana Rath
Editor: Divya Unni
Editors for Scientific Content: Sophie Höhn
Contact Us
Advisory Editorial Board: Ségolène Aymé, Anna Bucsics, Paul Boom, Bruno Dallapiccola, Jordi Llinares-Garcia, Adam Heathfield, Alastair Kent, Dominique Péton-Klein, Milan Macek, Till Voigtländer

INTERNATIONAL CORRESPONDENTS
Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Sirpa Ala-Mello (Finland), Joerg Schmidtke (Germany), 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), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Dian Donnai (UK)
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