5 April 2016 print
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Editorial
 
EMA launches Priority Medicines Scheme
 

In the previous year the European Medicines Agency (EMA) set up a public consultation to develop a scheme to optimise the development and accelerated assessment of medicines of major public health interest (Read in OrphaNews). It was developed in consultation with the Agency's scientific committees, the European Commission and its expert group on Safe and Timely Access to Medicines for Patients (STAMP) as well as the European medicines regulatory network. This scheme for priority medicines was called PRIME is characterised by enhanced interaction and early dialogue with medicine developers and the EMA.

The EMA has thus launched PRIME, where a medication can be chosen to benefit from this scheme, based on the unmet medical needs it fulfills and on early clinical data that the said medication produces. The EMA encourages applicants from the academic sector and micro-, small- and medium-sized enterprises (SMEs), who can apply earlier on the basis of compelling non-clinical data and tolerability data from initial clinical trials. Companies can also request fee waivers for scientific advice.

The EMA has outlined the process once a candidate medicine has been selected for PRIME which is described in detail on their website.
For more information
 


 
Spotlight on...
 
The story so far: a report on the incentives provided for orphan medicinal products in Europe
 
The report by the European Commission takes stock of the incentives received by sponsors towards developing orphan medicinal products. The report provides the statistics that possibly endorse the success of these incentives. According to the report, between 2000 and September 2015, the European Medicines Agency (EMA) received 2302 applications for orphan designation, of which the Commission approved 1544 and 1227 are currently active. In the first 15 years of application of the Regulation, 951 protocol assistance procedures were completed, of which 264 involved small and medium enterprises. The EMA receives a special annual contribution from the EU budget to waive fees in part or in full, which till date amounts to €78.4 million.

For EU-funded research on rare diseases and OMPs, Orphan designation has been a requirement for the Framework Programme funding since 2009. The report details that there was more than a 50 % increase in both the number of OMP applications submitted and the number of designations granted by Commission during 2009-2015, in comparison with 2000-2008. More than €620 million in funding was awarded by FP7 to over 120 research projects on rare diseases and OMPs. Horizon 2020 maintains strong commitment to fund research on rare diseases and OMPs. Additionally, the Commission launched the International Rare Diseases Research Consortium (IRDiRC) under FP7, in cooperation with its EU and international partners.

The report details the measures taken by individual member states towards encouraging OMP development. In the Netherlands, registration fees can be waived if the OMP is already registered in another Member State and the prevalence of the condition is less than 1:150,000. Orphan medication developers in France are exempt from certain taxes paid by pharmaceutical companies and allows claiming a high price with certain conditions. Last year, Belgium and the Netherlands launched a pilot project on the joint negotiation of OMPs. Spain and Sweden announced specific scientific advice procedures to benefit developers of OMPs. The Committee for Orphan Medicinal Products at the EMA, has established an international liaison in North America and Japan and also holds a monthly teleconference with the U.S Food and Drug Administration.

Finally the report lists all the products that received marketing authorisations as OMPs over the past 15 years, and its distribution per therapeutic area.
Read the report

 


 
EU Policy News
 
EMA
 
The European Medicines Agency collaboration with academia
 
The European Medicines Agency, in order to implement the strategic priority of establishing a greater collaboration with Academia, is initiating a consultation process with the following objectives:

1. explore opportunities to better support Academia in generating new medicines that meet regulatory standards;
2. channel Academia's advanced knowledge into the regulatory environment;
3. assess the degree of awareness among Academics of the existing activities and incentives provided by regulators to support medicine development;
4. refine regulators' understanding of Academia's needs and expectations and develop a methodology for collaboration.
You are invited to participate to this process by answering a brief questionnaire that also provides space for comments and suggestions.
Please click here to access the questionnaire. Read the background paper
The deadline for completing the on-line questionnaire is 15 April 2016.

 


 
National & International Policy Developments
 
Other European news
 
Health Programme 2014- 2020: Commission adopts Work Programme for 2016
 
With a total budget of close to €450 million for 2014 - 2020, the Health Programme is the main financial instrument for policy coordination in the area of health and supports and complements Member States' efforts towards the achievement of major Commission priorities. In the context of the EU’s Health Programme 2014 - 2020, the Commission has today adopted the Work Programme for 2016. The funding opportunities include projects and service contracts, as well as Joint Actions planned with national authorities, in priority areas which, among others, include supporting the establishment of European Reference Networks, and cooperation on eHealth and Health Technology Assessment (HTA) both of which have an immense impact on rare diseases. A call for setting up ERNs was recently announced. Additionally a conference on HTA was also held recently.

Calls for tenders for specific services described in the 2016 Work Programme will be announced on Chafea’s website at a later date.
Click for more information on the Health Programme, and to read the 2016 Work Programme in full

 
The need for a European orphan device directive
 
An article published in Orphanet Journal of Rare Diseases has described the need for the development of an orphan device directive in Europe. The author has provided a historical perspective of breakthroughs in surgical devices. He has then outlined what a current orphan device directive should address, which includes post-marketing surveillance, incentives to stimulate research and development for innovative devices as well as centralisations of safety/efficacy data collected from EU member states into EUDAMED : European Databank on Medical Devices to obtain comparative (cost)effectiveness and safety statistics.
Read the Open Access article

 
Recommendations on building an evidence base for genetic counselling in Europe
 
The requirement for genetic counselling research across Europe is addressed in a letter published in European Journal of Human Genetics. According to the authors this need is urgent as it “affects 30 million Europeans affected by genetic conditions may be neither recognised nor managed appropriately by health professionals.” The authors believe that evidence in the area of service provision to map the resources in Europe. They believe that research in health services and education which will help provide quality service to and design better interventions as well as improve the genetic counselling process.
Access the letter

 
A European Cancer Plan for Children and Adolescents
 
An article published in the Journal of Cancer Policy describes the strategic plan to "increase the cure rate and the quality of survivorship for children and young people with cancer over the next ten years". This has been developed by the European Network for Cancer research in Children and Adolescents (ENCCA), SIOPE and the European paediatric haematology-oncology community.

Seven medical and scientific objectives set up to achieve these goals are described below:

“1. Innovative treatments: to introduce safe and effective innovative treatments (i.e. new drugs, new technologies) into standard care;
2. Precision cancer medicine: to use improved risk classification as well as biological characteristics of both the tumour and patient (such as molecular and immunological factors) to help guide decisions on which therapies to use;
3. Tumour biology: to increase knowledge of tumour biology and speed up translation from basic research to clinical care to benefit patients;
4. Equal access: to bring about equal access across Europe to standard care (in both diagnosis and treatment), expertise and clinical research;
5. TYA: to address the specific needs of teenagers and young adults (TYA), in cooperation with adult oncology;
6. Quality of survivorship: to address the consequences of cancer treatment such as long-term side effects, to better understand the genetic background/risk of an individual, and to improve quality of life of childhood cancer survivors;
7. Causes of cancer: to understand the causes of paediatric cancers and to address prevention wherever possible.”

Access the article

 
Other International News
 
Studying paediatric orphan lung diseases in Asia: an example of an Iranian registry
 
Epidemiology of orphan lung diseases in Asia is not well known or studied due to scarcity of cases, centralised patient registries and disparate locations. According to authors of a commentary published in The Lancet – Respiratry Medicine, “the picture of other paediatric orphan lung diseases in Asia is more obscure than that for patients with cystic fibrosis because most data are derived from case reports.”

The authors then describe the Iranian Pediatric Orphan Lung Diseases (IPOLD) registry, that collects data about several orphan lung diseases, concurrent with which they established the national cystic fibrosis registry with 300 children with cystic fibrosis. This collaboration consists, among others, of 25 paediatric pulmonologists and paediatricians participating in the registration of cases of orphan lung diseases through a secure web-based network system. The authors believe that this effort, especially in Asia is laudable and “a global consensus regarding the prevention, diagnosis, and treatment of paediatric orphan lung diseases will only be achieved through the collaboration of national registries and the emergence of coordinated action by health authorities to address this unmet medical need.”
Access the article

 
NORD Announces 2016 Rare Impact Awardees
 
The National Organization for Rare Disorders (NORD) have announced the 2016 Rare Impact Award recipients to be honored on 17 May, 2016.

This year’s honorees include:

- Desiree Lyon, cofounder and executive director of American Porphyria Foundation, and Noah Victoria, courageous patients who advocate for themselves and others;
- Debra Miller, founder of CureDuchenne and parent advocate working tirelessly to make a difference for all rare kids and families;
- Leading bioethicist Arthur Caplan, Ph.D.;
- Driven researcher and educator Dawn Laney, M.S., C.G.C., C.C.R.C.;
- Stephen Cederbaum, M.D., whose patients describe as having changed their lives forever;
- Friedreich’s Ataxia Research Alliance, a passionate patient organization working to make a difference for everyone affected by rare diseases;
- Industry innovators Alexion Pharmaceuticals, Inc., Asklepion Pharmaceuticals, LLC, Astellas Pharma, United Therapeutics Corporation, and Wellstat Therapeutics Corporation;
- National health leaders Senator Orrin Hatch (RUtah) and Congresswoman Doris Matsui (DCA).

The 2016 honorees will be recognized at the Rare Impact Awards on Tuesday, 17 May 2016 at 6:30 p.m., at the Warner Theatre, in Washington, D.C., United States.
For further information

 
Guidance Documents and Recommendations
 
Primary adrenal insufficiency: recommendations on the diagnosis and treatment
 
Consult the Pubmed abstract
 
To read more about "Primary adrenal insufficiency"

 
J Clin Endocrinol Metab. ; 101(2):364-89 ; February 2016
 
Duchenne muscular dystrophy: guidelines on corticosteroid treatment
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Neurology ; 86(5):465-72 ; February 2016
 
Infantile fibrosarcoma: conservative therapeutic recommendations
 
Consult the Pubmed abstract
 
To read more about "Fibrosarcoma"

 
Eur J Cancer. ; 57:1-9 ; April 2016
 
Bioinformatics, Registries and Data Management
 
The European Narcolepsy Network database
 
An article published in Journal of Sleep Research describes the “first prospective web-based European narcolepsy database hosted by the European Narcolepsy Network.” The article describes the process that led to the construction of the database and an "overview of the first 1079 patients from 18 European centres" (list provided in the article). They provide the description of the patient data hosted in their database across various parameters. According the authors, this database has helped provide better insight into the disease by providing phenotype characterisation, epidemiological and natural history data, as well as an improved look at medication effects.
Read the PubMed abstract

 


 
Ethical, Legal & Social Issues
 
Physicians respond to the increase in the treatment cost of Wilson’s Disease
 
An opinion piece published in Hepatology describes the price increases for chelation therapy, in the United States, for Wilson’s disease (WD), focussing on trientine (Syprine), even though D-penicillamine (Cuprimine) is also affected. According to the authors, the current annual cost of Syprine, after changing manufacturers, is approximately USD 300,000. This is 200 times higher than the cost marked by Merck – the original producer of Syprine - making it the costliest treatment for any liver disease to date. The authors believe that this impetus towards elevated pricing of medications is because “there is little driving competition for the manufacture and distribution of D-penicillamine or trientine in the United States.” The authors believe that the profit motive of these pharmas, with no legal barriers to curb prices is also to blame. Thus an urgent need for regulating costs of treating rare diseases patients is highlighted.
Read the PubMed abstract

 
An ethical framework for allocating chemotherapy and supportive care drugs for childhood cancer
 
To address shortages of life-saving chemotherapy and supportive care agents for children with cancer, an ethical framework is proposed in a commentary published in Journal of National Cancer Institute. According to the authors this framework, based upon multidisciplinary expert opinion and a panel of consultants, includes strategies to minimise waste and adequately prioritise treatments. It identifies three important factors that can help to support reasoned decision making for the allocation of drugs for children with cancer: curability, prognosis, and the incremental importance of a particular drug to a given patient’s outcome. The framework provides reasoning for explicit decision-making as well as minimises bias. According to the authors, this framework provides adequate support and guidance to doctors and helps them to make decisions, instead of approaching it like a solitary venture.
Read the PubMed abstract

 
Value-based pricing for orphan drugs
 
An article published in Journal of Pharmaceutical Health Services Research discusses how to develop a value based pricing policy as part of a national drug policy especially in the context of orphan drugs as they tend to be priced at a much higher level compared to drugs for common diseases. The author describes Value-based pricing (VBP) as an attempt to "maximise utility and determine an appropriate price for the payer, while simultaneously addressing the needs of the public, and protecting pharmaceutical companies and patients from inappropriate lowering of prices."

The article points out that determining the value can be similar to determining quality adjusted life years in cost-effectiveness analyses but should also include the at-risk groups who may not be adequately represented while making these decisions. The authors especially describe the debate for including orphan drugs in value-based pricing. Determining performance of the drug is discussed at length, providing many instances of how the stakeholders can help in this process. Accordingly the authors believe that the optimal scheme for reimbursement may be a “combination of conditional and performance-linked schemes." The authors state that including innovation into VBP is pivotal and so are according incentives towards research for innovative medicines.
Access the article

 


 
New Syndromes
 



 
Microcephaly, early developmental delay and severe dyskinesia associated with a CSTB null mutation in two patients
 
The authors reported on two brothers with a CSTB homozygous null mutation. They presented with progressive microcephaly, early developmental delay and severe dyskinesia.
Consult the Pubmed abstract

 
Neurology ; 86(9):877-8 ; March 2016
 
Leukoencephalopathy and early death associated with a mutation in C11ORF73
 
Six patients from three unrelated Ashkenazi-Jewish families presented a novel congenital leukodystrophy, associated with early onset spastic paraparesis, acquired microcephaly and optic atrophy. All the patients were homozygous for a missense mutation in C11ORF73.
Consult the Pubmed abstract

 
J Med Genet. ; 53(2):132-7 ; February 2016
 
Combined immunodeficiency due to defective iron transport linked to a missense mutation in TFRC
 
The authors described the first human immunodeficiency caused by defective iron transport. Patients presented with a combined immunodeficiency characterised by normal numbers but impaired function of T and B cells, mild anaemia and only slightly increased transferrin receptor 1 expression in erythroid precursors. A homozygous mutation in TFRC was found.
Consult the Pubmed abstract

 
Nat Genet. ; 48(1):74-8 ; January, 2016
 
Early-onset systemic inflammation due to A20 haploinsufficiency is associated with mutations in TNFAIP3 in six unrelated families
 
The authors described a new disease caused by heterozygous germline mutations in TNFAIP3 in six unrelated families with early-onset systemic inflammation. The dominant disorder was characterised by arthralgia and/or arthritis, oral and genital ulcers, and ocular inflammation.
Consult the Pubmed abstract

 
Nat Genet. ; 48(1):67-73 ; January, 2016
 
Erythrokeratodermia-cardiomyopathy syndrome caused by dominant de novo DSP mutations
 
The authors identified subjects with a novel disorder of keratinisation featuring erythrokeratodermia and initially-asymptomatic, progressive, potentially fatal cardiomyopathy, a finding not previously associated with erythrokeratodermia. De novo missense mutations of DSP caused this novel cardio-cutaneous disorder, which the authors termed ‘Erythrokeratodermia-cardiomyopathy syndrome’.
Consult the Pubmed abstract

 
Hum Mol Genet. ; 25(2):348-57 ; January, 2016
 
Distal myopathy and motor neuropathy caused by heterozygous mutations in HSPB8 in two families
 
Two families presented with autosomal dominant distal neuromuscular disease showing both myofibrillar and rimmed vacuolar myopathy together with neurogenic changes. Whole-exome sequencing and targeted next-generation sequencing identified a heterozygous change in HSPB8.
Consult the Pubmed abstract

 
Neurology ; 86(4):391-8 ; January, 2016
 
Limb-girdle muscular dystrophy type 2X due to POPDC1 homozygous mutation in a family
 
The authors described a novel type of limb-girdle muscular dystrophy named ‘Limb-girdle muscular dystrophy type 2X’ and characterised by muscular dystrophy and arrhythmia. A homozygous missense variant in POPDC1 was identified by whole-exome sequencing in a family of 4.
Consult the Pubmed abstract

 
J Clin Invest. ; 126(1):239-53 ; January, 2016
 
Recessive dilated cardiomyopathy and left ventricular non-compaction linked to PLEKHM2 mutation
 
The authors described a large Bedouin family presenting with a severe recessive dilated cardiomyopathy and left ventricular non-compaction. Homozygosity mapping and exome sequencing identified a single gene variant in PLEKHM2 that segregated with the disease.
Consult the Pubmed abstract

 
Hum Mol Genet. ; 24(25):7227-40 ; December 2015
 
Novel variant of Guillain-Barré syndrome with acute bulbar palsy without limb motor weakness
 
The authors categorised a syndrome manifesting as prominent acute bulbar palsy without neck or limb weakness as a variant form of Guillain-Barré syndrome. They differentiated it from Miller Fisher syndrome and pharyngeal-cervical-brachial variants.
Consult the Pubmed abstract

 
Neurology ; 86(8):742-7 ; February 2016
 


 
New Genes
 



 
Autosomal recessive intellectual disability and epilepsy linked to a homozygous missense mutation in LMAN2L in a large consanguineous Pakistani family
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive non-syndromic intellectual disability"

 
J Med Genet. ; 53(2):138-44 ; February 2016
 
Microcephalic primordial dwarfism associated with mutations in TRAIP
 
Consult the Pubmed abstract
 
To read more about "Microcephalic primordial dwarfism"

 
Nat Genet. ; 48(1):36-43 ; January, 2016
 
Charcot-Marie-Tooth disease type 1A caused by a mutation in PMP2
 
Consult the Pubmed abstract
 
To read more about "Charcot-Marie-Tooth disease type 1A"

 
PLoS Genet. ; 12(2):e1005829 ; February 2016
 
Mitochondrial respiratory chain complex deficiencies linked to MRPS23, QRSL1, PNPLA4, MECP2 and TNNI3 mutations
 
Consult the Pubmed abstract
 
PLoS Genet. ; 12(1):e1005679 ; January, 2016
 
Isolated growth hormone deficiency associated with a heterozygous missense mutation in POU1F1 in a large family
 
Consult the Pubmed abstract
 
To read more about "Non-acquired isolated growth hormone deficiency"

 
Hum Mol Genet. ; 25(3):472-83 ; February 2016
 
Pituitary stalk interruption syndrome due to a nonsense mutation in CDON
 
Consult the Pubmed abstract
 
To read more about "Pituitary stalk interruption syndrome"

 
J Clin Endocrinol Metab. ; 101(1):12-5 ; January, 2016
 
Butterfly-shaped pigment dystrophy caused by heterozygous missense mutations in CTNNA1 in three families
 
Consult the Pubmed abstract
 
To read more about "Butterfly-shaped pigment dystrophy"

 
Nat Genet. ; 48(2):144-51 ; February 2016
 
Ischio-vertebral syndrome linked to biallelic mutations in BMPER in two patients
 
Consult the Pubmed abstract
 
To read more about "Ischio-vertebral syndrome"

 
Orphanet J Rare Dis. ; 11(1):1 ; January, 2016
 
Rett syndrome-like phenotypes: novel candidate genes identified by whole-exome sequencing
 
Consult the Pubmed abstract
 
To read more about "Atypical Rett syndrome"

 
J Med Genet. ; 53(3):190-9 ; March 2016
 
Arthrogryposis: CHRNG, ECEL1, FBN3, MYO9A, PSD3, MYBPC2 and VPS8 as candidate genes
 
Consult the Pubmed abstract
 
J Clin Invest. ; 126(2):762-78 ; February 2016
 
Angiocentric glioma: MYB-QKI as candidate driver
 
Consult the Pubmed abstract
 
To read more about "Angiocentric glioma"

 
Nat Genet. ; 48(3):273-82 ; March 2016
 
Neurodevelopmental disorders: review on copy number variations as risk factors
 
Consult the Pubmed abstract
 
J Med Genet. ; 53(2):73-90 ; February 2016
 
Systemic-onset juvenile idiopathic arthritis: HLA-DRB1 as susceptibility genes
 
Consult the Pubmed abstract
 
To read more about "Systemic-onset juvenile idiopathic arthritis"

 
Proc Natl Acad Sci U S A. ; 112(52):15970-5 ; December 2015
 


 
Research in Action
 



 
Clinical Research
 
Mucopolysaccharidosis type 4A: elosulfase alfa is well-tolerated, decreases urine keratin sulfate and improves growth
 
Consult the Pubmed abstract
 
To read more about "Mucopolysaccharidosis type 4A"

 
Pediatr Res. ; 78(6):717-22 ; December 2015
 
Congenital hydrocephalus: repeated autologous umbilical cord blood infusions are feasible and have no acute safety issues in young babies
 
Consult the Pubmed abstract
 
To read more about "Congenital hydrocephalus"

 
Pediatr Res. ; 78(6):712-6 ; December 2015
 
Neuromuscular diseases: two- and six-minute walk tests are equivalent
 
Consult the Pubmed abstract
 
Neurology ; 86(5):442-5 ; February 2016
 
Tardive dyskinesia: bilateral pallidal stimulation should be considered as a therapeutic option
 
Consult the Pubmed abstract
 
Neurology ; 86(7):651-9 ; February 2016
 
Zika virus infection can cause Guillain-Barré syndrome
 
Consult the Pubmed abstract
 
To read more about "Guillain-Barré syndrome"
To read more about "Zika virus disease"

 
Lancet ; pii: S0140-6736(16)00562-6 ; February 2016
 
Malaria: antimalarial activity of artefenomel
 
Consult the Pubmed abstract
 
Lancet Infect Dis. ; 16(1):61-9 ; January, 2016
 
Schistosomiasis: efficacy and safety of praziquantel for pregnant women
 
Consult the Pubmed abstract
 
To read more about "Schistosomiasis"

 
Lancet Infect Dis. ; 16(2):199-208 ; February 2016
 
Medulloblastoma: proton radiotherapy as an alternative to photon-based treatments
 
Consult the Pubmed abstract
 
To read more about "Medulloblastoma"

 
Lancet Oncol. ; 17(3):287-98 ; March 2016
 
Pleural mesothelioma: hemithoracic radiotherapy should not be used after neoadjuvant chemotherapy and extrapleural pneumonectomy
 
Consult the Pubmed abstract
Consult the study on Orphanet

 
To read more about "Pleural mesothelioma"

 
Lancet Oncol. ; 16(16):1651-8 ; December 2015
 
Mantle cell lymphoma: ibrutinib combined with rituximab is active and well tolerated
 
Consult the Pubmed abstract
 
To read more about "Mantle cell lymphoma"

 
Lancet Oncol. ; 17(1):48-56 ; January, 2016
 
Chronic lymphocytic leukaemia: the addition of ibrutinib to bendamustine plus rituximab improves outcomes
 
Consult the Pubmed abstract
Consult the study on Orphanet

 
To read more about "B-cell chronic lymphocytic leukemia"

 
Lancet Oncol. ; 17(2):200-11 ; February 2016
 
Acute myeloid leukaemia: mitigated results with the addition of sorafenib to standard chemotherapy
 
Consult the Pubmed abstract
Consult the study on Orphanet

 
To read more about "Acute myeloid leukemia"

 
Lancet Oncol. ; 16(16):1691-9 ; December 2015
 
Infantile hemangioma: propranolol is the most effective treatment
 
Consult the Pubmed abstract
 
Pediatrics ; 137(2):1-10 ; February 2016
 
Perinatal and infantile hypophosphatasia: asfotase alfa treatment improves survival
 
Consult the Pubmed abstract
 
To read more about "Perinatal lethal hypophosphatasia"
To read more about "Infantile hypophosphatasia"

 
J Clin Endocrinol Metab. ; 101(1):334-42 ; January, 2016
 
Hereditary angioedema: efficiency of long-term danazol treatment
 
Consult the Pubmed abstract
 
To read more about "Hereditary angioedema"

 
Orphanet J Rare Dis. ; 11(1):18 ; February 2016
 
Women who develop neuromyelitis optica and have other autoimmune disorders have greater odds of preeclampsia
 
Consult the Pubmed abstract
 
To read more about "Neuromyelitis optica"

 
Neurology ; 86(1):79-87 ; January, 2016
 
Assisted reproductive technology could be associated with an increased risk factor of Hodgkin lymphoma and leukaemia in children
 
Consult the Pubmed abstract
 
Pediatrics ; 137(3):1-12 ; March 2016
 
Glutaric aciduria type 1: study of neuropsychological functions in patients
 
Consult the Pubmed abstract
 
To read more about "Glutaryl-CoA dehydrogenase deficiency"

 
Orphanet J Rare Dis. ; 10(1):163 ; December 2015
 
Os odontoideum in Wolcott-Rallison syndrome
 
Consult the Pubmed abstract
 
To read more about "Wolcott-Rallison syndrome"

 
Orphanet J Rare Dis. ; 11(1):14 ; February 2016
 
Therapeutic Approaches
 

 
Alpha-mannosidosis: a single cisterna magna injection of adeno-associated virus type 1 into the cerebrospinal fluid can improve the disease in cats
 
Consult the Pubmed abstract
 
To read more about "Alpha-mannosidosis"

 
Mol Ther. ; 24(1):26-33 ; February 2016
 
Mucopolysaccharidosis type 7: markers for secondary storage and inflammation are eliminated in intrathecally treated dogs with AAV9 or AAVrh10 vectors
 
Consult the Pubmed abstract
 
To read more about "Mucopolysaccharidosis type 7"

 
Mol Ther. ; 24(2):206-16 ; February 2016
 
Congenital sideroblastic anaemia: glycine and folate ameliorate the disease in yeast and zebrafish models
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive sideroblastic anemia"

 
PLoS Genet. ; 12(1):e1005783 ; January, 2016
 
Generalised arterial calcification of infancy: bisphosphonate treatment may be beneficial by a dual effect in mouse
 
Consult the Pubmed abstract
 
To read more about "Generalized arterial calcification of infancy"

 
J Invest Dermatol. ; 136(1):275-83 ; January, 2016
 
Retinitis pigmentosa: clinical feasibility of transplantation of human embryonic stem cell-derived retinal tissue in two primate models
 
Consult the Pubmed abstract
 
To read more about "Retinitis pigmentosa"

 
Proc Natl Acad Sci U S A. ; 113(1):E81-90 ; January, 2016
 
Amyotrophic lateral sclerosis: the ASK1-specific inhibitors K811 and K812 prolong survival in a mouse model
 
Consult the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"

 
Hum Mol Genet. ; 25(2):245-53 ; January, 2016
 
Lymphoma: heparanase-neutralising antibodies attenuate lymphoma tumour growth and metastasis in mice
 
Consult the Pubmed abstract
 
To read more about "Lymphoma"

 
Proc Natl Acad Sci U S A. ; 113(3):704-9 ; January, 2016
 
Pancreatic ductal adenocarcinoma: iontophoretic device delivery for localised treatment in xenograft and mice
 
Consult the Pubmed abstract
 
Proc Natl Acad Sci U S A. ; 113(8):2200-5 ; February 2016
 
CEDNIK syndrome: establishment of two mouse models
 
Consult the Pubmed abstract
 
To read more about "CEDNIK syndrome"

 
J Invest Dermatol. ; 136(3):672-9 ; March 2016
 
Modeling human bone marrow failure syndromes using pluripotent stem cells and genome engineering
 
Consult the Pubmed abstract
 
Mol Ther. ; 23(12):1832-42 ; December 2015
 
Diagnostic Approaches
 

 
Craniosynostosis: cranial ultrasound as a first-line imaging examination
 
Consult the Pubmed abstract
 
To read more about "Craniosynostosis"

 
Pediatrics ; 137(2):1-9 ; February 2016
 
Overdiagnosis of idiopathic intracranial hypertension
 
Consult the Pubmed abstract
 
To read more about "Idiopathic intracranial hypertension"

 
Neurology ; 86(4):341-50 ; January, 2016
 
High- and low-dose ACTH stimulation tests have similar diagnostic accuracy and are adequate to rule in, but not rule out, secondary adrenal insufficiency
 
Consult the Pubmed abstract
 
J Clin Endocrinol Metab. ; 101(2):427-34 ; February 2016
 
Myasthenia gravis: ocular vestibular evoked myogenic potentials as a diagnostic test
 
Consult the Pubmed abstract
 
To read more about "Myasthenia gravis"

 
Neurology ; 86(7):660-8 ; February 2016
 
Duchenne muscular dystrophy: review on genetic diagnosis
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
J Med Genet. ; 53(3):145-51 ; March 2016
 


 
Patient Management and Therapy
 
Epidermolysis bullosa: review on treatment and cure
 
Consult the Pubmed abstract
 
J Invest Dermatol. ; 136(2):352-8 ; February 2016
 
Acquired epidermolysis bullosa: review on pathophysiology and novel therapeutic options
 
Consult the Pubmed abstract
 
To read more about "Acquired epidermolysis bullosa"

 
J Invest Dermatol. ; 136(1):24-33 ; January, 2016
 
TGFBI corneal dystrophies: review on pathogenesis and treatments
 
Consult the Pubmed abstract
 
To read more about "Granular corneal dystrophy type I"
To read more about "Granular corneal dystrophy type II"
To read more about "Lattice corneal dystrophy type I"
To read more about "Microcystic corneal dystrophy"
To read more about "Reis-Bücklers corneal dystrophy"
To read more about "Thiel-Behnke corneal dystrophy"

 
Prog Retin Eye Res. ; 50:67-88 ; January, 2016
 
Connective tissue diseases: review on radiotherapy
 
Consult the Pubmed abstract
 
Lancet Oncol. ; 17(3):e109-17 ; March 2016
 
Intellectual disability and related disorders: review on genetic studies
 
Consult the Pubmed abstract
 
Nat Rev Genet. ; 17(1):9-18 ; January, 2016
 
Epileptic encephalopathies of infancy: review on genetic landscape
 
Consult the Pubmed abstract
 
To read more about "Early infantile epileptic encephalopathy"

 
Lancet Neurol. ; 15(3):304-16 ; March 2016
 
Genodermatoses: review on molecular genetics
 
Consult the Pubmed abstract
 
J Invest Dermatol. ; 136(1):15-23 ; January, 2016
 
Severe infectious diseases of childhood: review on genetics
 
Consult the Pubmed abstract
 
Proc Natl Acad Sci U S A. ; 112(51):E7128-37 ; December 2015
 
Primary brain tumours: review on neurocognitive function and genetic variation
 
Consult the Pubmed abstract
 
Lancet Oncol. ; 17(3):e97-e108 ; March 2016
 
Vici syndrome: a review
 
Consult the Pubmed abstract
 
To read more about "Vici syndrome"

 
Orphanet J Rare Dis. ; 11(1):21 ; February 2016
 
Zellweger spectrum disorders: review on management
 
Consult the Pubmed abstract
 
To read more about "Zellweger syndrome"
To read more about "Neonatal adrenoleukodystrophy"
To read more about "Infantile Refsum disease"
To read more about "Deafness-enamel hypoplasia-nail defects syndrome"

 
Orphanet J Rare Dis. ; 10:151 ; December 2015
 
IgG4-related disorders: a review
 
Consult the Pubmed abstract
 
Ther Clin Risk Manag. ; 12:189-99 ; February 2016
 
Eosinophilia and hypereosinophilic disorder: review on etiopathology, classification and clinical approach
 
Consult the Pubmed abstract
 
To read more about "Hypereosinophilic syndrome"

 
Rom J Intern Med. ; 53(4):289-95 ; Oct-Dec, 2015
 
Amyotrophic lateral sclerosis and frontotemporal dementia: review on eating behaviour and metabolism
 
Consult the Pubmed abstract
 
To read more about "Amyotrophic lateral sclerosis"
To read more about "Frontotemporal dementia"

 
Lancet Neurol. ; 15(3):332-42 ; March 2016
 
Idiopathic intracranial hypertension: a review
 
Consult the Pubmed abstract
 
To read more about "Idiopathic intracranial hypertension"

 
Lancet Neurol. ; 15(1):78-91 ; January, 2016
 
Autoimmune lymphoproliferative syndrome: a review
 
Consult the Pubmed abstract
 
To read more about "Autoimmune lymphoproliferative syndrome"

 
Clin Rev Allergy Immunol. ; 50(1):55-63 ; February 2016
 
Hereditary gingival fibromatosis: a review
 
Consult the Pubmed abstract
 
To read more about "Hereditary gingival fibromatosis"

 
Orphanet J Rare Dis. ; 11(1):9 ; January, 2016
 
Pseudoxanthoma elasticum: review on research progress
 
Consult the Pubmed abstract
 
To read more about "Pseudoxanthoma elasticum"

 
J Invest Dermatol. ; 136(3):550-6 ; March 2016
 
Ebola haemorrhagic fever: review on lessons learned and future challenges in Europe
 
Consult the Pubmed abstract
 
To read more about "Ebola hemorrhagic fever"

 
Lancet Infect Dis. ; 16(2):259-63 ; February 2016
 
‘Asymptomatic’ malaria: a review
 
Consult the Pubmed abstract
 
To read more about "Malaria"

 
PLoS Med. ; 13(1):e1001942 ; January, 2016
 
Clonorchiasis: a review
 
Consult the Pubmed abstract
 
Lancet ; 387(10020):800-10 ; February 2016
 
Whipple disease: a review
 
Consult the Pubmed abstract
 
To read more about "Whipple disease"

 
Lancet Infect Dis. ; 16(3):e13-22 ; March 2016
 
Tularaemia: review on clinical aspects in Europe
 
Consult the Pubmed abstract
 
To read more about "Tularemia"

 
Lancet Infect Dis. ; 16(1):113-24 ; January, 2016
 
Legionellosis: a review
 
Consult the Pubmed abstract
 
To read more about "Legionellosis"

 
Lancet ; 387(10016):376-85 ; January, 2016
 
Mycetoma: a review
 
Consult the Pubmed abstract
 
To read more about "Mycetoma"

 
Lancet Infect Dis. ; 16(1):100-12 ; January, 2016
 
Renal cell carcinoma: a review
 
Consult the Pubmed abstract
 
To read more about "Renal cell carcinoma"

 
Lancet ; 387(10021):894-906 ; February 2016
 
One new and one 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. One new GeneReviews has been published for:
17q12 recurrent duplication

One updated GeneReviews has been published for:
Noonan syndrome

 


 
Orphan Drugs
 
Early access to medicines for patients suffering from rare diseases
 
An article published in Regulatory Rapporteur describes the requirement to try innovative regulatory approaches to address access to medicines for patients with unmet medical needs. According to the authors success of these approaches will depend on the “early incorporation of patients’ views and preferences into clinical trial design and during benefit–risk evaluation and health technology assessment (HTA).” The article provides details on how rare disease patients are more readily available and are willing to take greater risk in order to receive early access to medications and believe that increasing the patients influence in the regulatory process will increase and benefit this process. Additionally the authors describe HTA involvement in access to new therapies and provide examples of how the HTA can be enhanced and how the industry and patients can be involved in strengthening this process.
Read the Open Access article

 



Two articles describe the similarities and differences in regulations that affect the development and access to orphan drugs in three regions - Japan, United States and the European Union - that have an orphan drug legislation.

 
Compassionate use of drugs and medical devices in the United States, the European Union and Japan
 
A paper published in Regenerative Therapy the current compassionate use mechanisms, of the United States (U.S), the EU and Japan is analysed. The authors have provided and exhaustive assessment of the usage of expanded access to drugs, medical devices and biologics in these countries. While the U.S and the EU have mechanisms to be able to provide unapproved products. Japan lacks such schemes and the drugs are mostly provided at the discretion of the physician, but the authors state that they will be introducing a compassionate use programme for the usage of unapproved products for which patients are unable to enter into a clinical trial.

The authors also address the risks and benefits of the compassionate provision drugs in U.S and the EU. According to the authors, while these mechanisms benefit patients immensely, the need to monitor product safety and efficacy for unapproved medications is paramount. The authors suggest a “comprehensive mechanisms that consider the risks and benefits to the patients interested in using unapproved products and the companies providing the products.
Access the article

 
Orphan drug designations and approvals in the United States, the European Union, and Japan
 
A comprehensive study published in Drug Discovery Today provides “a quantitative review of all orphan drug designations and approvals since the implementation of orphan drug legislation” in the United States, the European Union and Japan. The authors provide a list of designated and approved orphan drugs in the three regions, which they show has steadily increased over the years, demonstrating the leverage of the orphan drug legislation. The authors also provide comprehensive data on the type of applicants that have received designations, their therapeutic classifications (ATC code) and drug type - small molecules have the highest number of designations across regions.

The authors note that large pharmaceutical companies comprised of a sizable percentage of applicants in Japan, with no academic applicants. In the United States and the EU, academics formed a small but significant portion of applicants. The authors also demonstrated that 800 designations overlapped in the ~5000 designations granted in the three regions, the largest contributions coming from the U.S, followed by the EU and Japan. However, Japan has approved more orphan drugs than the EU but less that the U.S. According to the data presented “53 percent of EU designations and 52% of Japanese designations were also designated in the USA”, which was reflected in the approvals as well.
Access the article

 
Regulatory News
 
Report of an audit of FDA’s Pediatric Voucher Program
 
The United States Government Accountability Office (GAO) released its report, “RARE DISEASES – Too Early to Gauge Effectiveness of FDA’s Pediatric Voucher Program.” GAO interviewed FDA officials, sponsors, patient advocacy groups, trade groups, and other interested organisations and individuals on this issue. Highlights from the report include:

• FDA officials interviewed for the GAO report did not support the continuation of the Pediatric Voucher Program after it expires on October 1, 2016, although there is support among other stakeholders for its continuation
• 52 rare paediatric disease designation requests have been submitted while 29 rare paediatric disease designation requests have been granted; and
• To date, no voucher has been awarded for a new drug application to prevent a rare paediatric disease.

The report provides an overview of the drugs that received the vouchers, describing the extent to which they filled unmet need and identifying how they are being used. GAO concluded, as the title suggests, that it’s too early to gauge if the pediatric voucher program stimulates drug development.
Read the article

 
17 positive opinions recommending orphan designation at the February 2016 COMP meeting
 
-> The European Medicines Agency Committee for Orphan Medicinal Products (COMP) adopted four positive opinions issued at the February 2016COMP meeting for the treatment of:

- chronic lymphocytic leukaemia / small lymphocytic lymphoma
- post-transplant lymphoproliferative disorder
- cutaneous T-cell lymphoma
- soft tissue sarcoma
- for diagnosis of hepatocellular carcinoma
- for diagnosis of glioma
- gastro-entero-pancreatic neuroendocrine tumours
- soft tissue sarcoma
- primary hyperoxaluria
- pulmonary arterial hypertension
- lymphoplasmacytic lymphoma
- mantle cell lymphoma
- haemophilia A
- ornithine transcarbamylase deficiency
- oesophageal cancer
- idiopathic intracranial hypertension
- GNE myopathy

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
 
Improving the Paediatric Drug Development
 
A study published in Clinical Therapeutics present the current status of paediatric drug development and proposes improvements to the development of drugs that has paediatric therapeutic orphan status. The authors found that the paediatric drug development in Japan was more active after the introduction of premiums for the enhancement of paediatric drug development, even reaching the level of the European Union. They also demonstrated that the Paediatric Regulation and the Paediatric Committee promoted paediatric drug development in the European Union. In the United States the authors found that the ratio of paediatric clinical trials with an approved Paediatric Investigation Plan increased to 415% after 2008. The authors believe that “collaboration among industry, government, academia, and community” and expanding the regulatory steps is essential for more paediatric drugs.
Access the article

 


 
Grants
 

 
SWISS BRIDGE AWARD 2016
 
Swiss Bridge is a private foundation associated with the Swiss Cancer League, the Swiss Cancer Research foundation and the Union for International Cancer Control (UICC), and supports high-quality cancer research in Europe. This year, on the occasion of the 20th anniversary of the Swiss Bridge foundation, funding is provided for investigators who have made outstanding contributions in the field of rare cancers* (preference will be given to young investigators**). Investigators from academic and cancer research institutions in Europe are invited to submit a note of intent for a new cancer research project before 30 April 2016.
For further information

 
Kindness for Kids Health Care Award
 
Kindness for kids will award a maximum of 40,000 euros for the implementation of a project that aims to directly improve the situation of children living with a rare disease through structural changes or with a new therapeutic approach in the area of physiotherapy and psychological care. Deadline for application: 30 April 2016.
For further information

 
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

 
Offer for financing research on Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
 
The Ataxia of Charlevoix-Saguenay Foundation offers annual research fellowships that will lead to a treatment for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A maximum of $100,000 could be awarded for a period of one year and could be renewed for a second year by way of a new application. Applicants must e-mail the completed form (including annexes) at the latest the day of the competition deadline to the following address: sgobeil@ctf.ca. Application deadline: May 20, 2016
For further information

 
Fondation René Touraine Fellowships
 
Since 1993, the Foundation’s Scientific Board reviews each year the candidate’ applications and allocates the following fellowships:
• One fellowship of 18000€ for a long exchange
• Four Fellowships of 4500€ for a short exchange
These grants are awarded to encourage exchanges and international collaborations between research laboratories or clinical departments. Pre or post doctoral research fellows and dermatologists may apply for these grants. Eligibility criteria and details on the fellowships are available here . The deadline for receipt of applications is the 1st October 2016.

 
Rare disease microgrants: Call for proposals
 
The Rare Disease Foundation and its partners, BC Children's Hospital Foundation, Canadian Organization for Rare Disorders and Global Genes, are delighted to offer microgrants of $3,500 for researchers engaged in any type of care-focused rare disease research. Microgrant competitions are held four times per year, applications are one page and decisions are returned in 15 business days. Next deadline: May 1, 2016.
For further information

 
Care-for-Rare Science Award 2016
 
endowed with 50.000,00 Euro. The Care-for-Rare Science Award, sponsored by the Werner Reichenberger Foundation, should give young scientists the chance to initiate a basic or clinical research project in the field of rare diseases.

The Care-for-Rare Foundation supports interdisciplinary and international scientific projects with the goal to elucidate the causes of rare diseases and to develop new innovative therapies for affected children. The application is open for single persons or groups of scientists with at least one member being affiliated with a research institution located in Germany. Junior researchers are explicitly encouraged to apply.
The complete application documents have to be submitted electronically by June 30, 2016.
For further information

 


 
Partnersearch, Job Opportunities
 
Position open at Orphanet France for Phenotypic indexing of rare diseases
 
Position open at Orphanet France to participate in the indexation of rare diseases with phenotypes of ontology "Human Phenotype Ontology" (international nomenclature of reference), implement the workflow between US14-Orphanet and "Human Phenotype Ontology" and participate in the quality control of data. This is a fixed term position (CDD), open to canditates eligible to work in France. Further details (in French) can be found here
 


 
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@rrdfoundation.org/www.rrdfoundation.org.

2nd Asia Pacific course: paediatric neurometabolic and movement Disorders Date: 10- 12 June, 2016
Venue: Taipei, Taiwan

Metabolic myopathies course Date: 3-5 November, 2016
Venue: Paris, France

 
Genomics of Rare Diseases: Beyond the Exome
 
Date: 13-15 April, 2016
Venue: Cambridge, United Kingdom

Genomics of Rare Disease: Beyond the Exome will present an exciting blend of genomic science and clinical medicine. This conference provides an excellent forum for clinicians and scientists interested in human genomic variation and the mechanisms by which it exerts its phenotypic effects.
For further information

 
ExPRESS 2016 Expert Patient and Researcher EURORDIS Summer School
 
Date: 6-10 June, 2016
Venue: Barcelona, Spain

Patients are taking on ever increasing roles in advocating for medicines development, equal access to treatments across Europe and ensuring that medical information is clear, accurate and comprehensible. In order to help preparing them for these roles and as part of its commitment to empowering people living with rare diseases, EURORDIS launched its own training programme for expert patients in 2008.

The programme has online and face-to face components. The face-to-face portion trains 40 expert patients annually as part of an intensive 4.5 day course.
For further information

 
4th Rare Diseases Summer School
 
Date: 13–15 July, 2016
Venue: Zurich, Switzerland

The 4 radiz Rare Diseases Summer School will focus on a wide variety of subjects in the arena of rare diseases, from disease mechanisms and animal models, to improving diagnoses, to novel therapeutics. There will be lectures and workshops on drug development, model organisms, how to choose clinical endpoints, clinical trials, regulatory aspects, patient registries, patient initiated research, ethical considerations, as well as what rare diseases may tell us about common diseases. The application deadline is March 31 2016.
For further information

 


 
What's on Where?
 

 
Lysogene to Host First–Ever Research Symposium Dedicated to GM1 Gangliosidosis
 
Date: 9 April, 2016
Venue: Florida, United States

Lysogene nnounced its sponsorship of the first-ever scientific workshop focused solely on GM-1 gangliosidosis (GM1) research for families and others with an interest in the disorder. GM-1 is a severe rare lysosomal storage disorder with a birth prevalence estimated at 1 per 200,000. A live broadcast will be openly available on NTSAD’s YouTube channel and will be accessible through the NTSAD, Cure GM1 Foundation and Lysogene websites.
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

 
H2020 European Health/Rare Diseases Brokerage Event
 
Date: 12-13 May, 2016
Venue: Oslo, Norway

Here you can get information on the new Horizon 2020 « Health, Demographic change and Wellbeing » 2016-2017 calls dedicated to rare diseases. You can also get the chance to present your innovative project to the participants Meet potential partners from Europe and beyond and start building your consortium.
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

 
ECRD 2016 : The European Conference on Rare Diseases & Orphan Products
 
Date: 26-28 May, 2016
Venue: Edinburgh, United Kingdom

The ECRD is the only event which, from its small beginnings, has united all rare disease stakeholders from all European nations- patients and patient representatives, healthcare professionals and researchers, industry, payers, regulators and policy makers alike- in the fight against rare diseases. The ECRD now brings together over 80 speakers and more than 800 participants, covering six themes of content over two days: from the latest research, to developments in new treatments, to innovations in healthcare, social care and support at the European, national and regional levels.
For further information

 
39th European Cystic Fibrosis Conference
 
Date: 8-11 June, 2016
Venue: Basel, Switzerland

The European Cystic Fibrosis Society is an international community of scientific and clinical professionals committed to improving survival and quality of life for people with CF by promoting high quality research, education and care.
For further information

 
21st International Waldenstroms Macroglobulemia Foundation Ed Forum
 
Date: 10-12 June, 2016
Venue: Rhode Island, United States

The theme this year is Imagine a Cure: Pathways to Progress to highlight the exciting Strategic Research Roadmap Initiative recently begun by the IWMF and the Leukemia & Lymphoma Society. The Ed Forum presents an excellent opportunity to hear about the latest in research and treatments.
For further information

 
International Meeting on Spastic Paraparesis and Ataxias
 
Date: 23-25 June, 2016
Venue: Paris, France

The fifth international meeting on spastic paraparesis and ataxias includes plenary talks from leaders in the field of spinocerebellar diseases (dominant and recessive forms of cerebellar ataxias and spastic paraplegias) and short talks or poster presentations from junior researchers.
For further information

 
12th European Working Group on Gaucher Disease 2016 meeting
 
Date: 29 June-2 July, 2016
Venue: Zaragoza, Spain

This conference will be attended by international stakeholders in Gaucher disease and is an excellent opportunity to get information on advances towards better research and treatment.
For further information

 
FEPS 2016
 
Date: 13-14 July, 2016
Venue: Bonn, Germany

The symposium will be a privileged moment to demonstrate through various examples and discuss the pivotal role of Physiological sciences in the discoveries related to rare inherited diseases.
For further information

 
14th MPS Symposium
 
Date: 13-14 July, 2016
Venue: Bonn, Germany

In this symposium you get informed about the latest developments in research on the metabolic disease MPS and related lysosomal storage diseases. It is a great forum for discovering what is new in the field of metabolic diseases research.
For further information

 
3rd European Aniridia Conference
 
Date: 27-28 August, 2016
Venue: Duisurg, Germany

Goal of the scientifical conference is an increase in knowledge about aniridia and broadening of network between researcher, doctor and scientists on a european scale to enhance the exchange between each other as well as developing future scientific research projects on aniridia as a joint effort.
For further information

 
27th European Dysmorphology Meeting
 
Date: 8 -9 September, 2016
Venue: Le Bischenberg

The meeting offers ample opportunities for exchanges and discussion. This is facilitated by the unique setting of the Workshop and the friendly atmosphere. The workshop program includes 88 platform presentations.
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:
 Organisational 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 B Cell 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

 
55th ESPE Annual Meeting
 
Date: 10-11 September, 2016
Venue: Paris, France

The theme of the meeting will be “Horizons in Paediatric Endocrinology” to capture the evolutionary and self-renewing nature of our specialty. The theme will also help evaluate the new challenges for paediatric endocrinology and discuss new and old medical, scientific and organisational paths.
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

 
4th Annual International Erdheim Chester Disease Medical Symposium
 
Date: 15 September, 2016
Venue: Paris, France

This social gathering will be an opportunity for fellowship among the Medical Symposium attendees and the ECDGA Board of Directors. We hope you will register to attend.
For further information

 
4th Annual International Erdheim Chester Disease Patient & Family Gathering
 
Date: 16 September, 2016
Venue: Paris, France

This gathering will provide opportunities to interact with the Erdheim Chester Disease medical research community and others in the health field. Sessions will be held on topics of interest for both patients and their families.
For further information

 
The 50th anniversary of the first publication on Rett Syndrome
 
Date: 15-17 September, 2016
Venue: Vienna, Austria

This conference is open to patients, clinicians, scientists, researchers and other healthcare professionals. Keynote lectures, oral presentations and posters aim at outlining History, (R)Evolution in Rett Syndrome, State of the Art, future trends and developments.
For further information

 
Rare metabolic disorders: detection, research, management and treatment
 
Date: 20-22 September, 2016
Venue: London, United Kingdom

This conference will discuss rare metabolic disorders, their detection, current research, disease management and treatment.
For further information

 
European Paediatric Stroke Symposium 2016
 
Date: 21-22 September, 2016
Venue: Lyon, France

The aim of this symposium is to address challenges of these conditions from a plural point of view, and to bring together multilateral experts in the field to reach high-level scientific discussions.
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

 
Alstrom Syndrome Europe (AS EU) ‐ 4th European Conference
 
Date: 10 October 2016
Venue: Vigo, Spain

Alstrom Syndrome Europe (AS EU) ‐ 4th European Conference aimed at medical and scientific professionals. Hosted by Professor Diana Valverde, in Vigo, Spain, Monday 10th October 2016. Contact AS EU Managing Director kay.parkinson@alstromsyndrome.eu

 
RareX featuring ICORD 2016
 
Date: 19-22 October 2016
Venue: Cape Town, South Africa

ICORD, Rare Disease International and the Rare Disease Society of South Africa invite you to ICORD 2016 in Cape Town, South Africa. Taking place in the context of Rare Diseases Week 2016, this is the first time that ICORD will be held in Africa. Join us and contribute to a legacy of prevention, treatment and study of rare diseases in Africa and around the world.
For further information

 
Cambridge Rare Disease Network (CRDN) 2nd annual International Rare Disease summit
 
Date: 25 October 2016
Venue: Cambridge, England

This event is aimed at key stakeholders from the International rare disease community, also hosting in parallel a "Round Table of Companies" meeting to initiate a rare disease joint funding strategy. Contact CRDN Events Director jo@camraredisease.org

 


Commercial events


 
6th Annual World Orphan Drug Congress
 
Date: 21-22 April, 2016
Venue: Barcelona, Spain

Workshops range in topic from market forecasting to pricing & reimbursement, R&D, commercialization, marketing and treatment. You can choose from 8 half day workshops or 2 full-day seminars.
For further information

 
The Orphan Drugs Summit
 
Date: 21-23 September, 2016
Venue: Amsterdam, The Netherlands

Highlights include fast changing national and regional regulations, clinical trial design, patient registries & stakeholder engagement, partnering and establishing financing for future development, establishing a balanced and sustainable pricing and reimbursement foundation, achieving an efficient and timely access to market with equal access for patients around the world.
For further information

 


 
Media, Press & Publications
 
A multidisciplinary group of authors launches the first book in Spanish on ethics in rare diseases research
 
A group of 14 authors from different disciplines have launched the book Ethics in research on rare diseases, the first monograph on this subject published in Spanish, which was created with the aim of “responding to the ethical concerns that research in rare diseases currently poses", according to the authors.

The work, signed by researchers, clinicians, regulatory agencies, bioethicists and family and patient representatives, addresses all ethical dilemmas involved in the investigation of these pathologies.

This book, sponsored by the Genzyme Foundation and the Center for Biomedical Network Research on Rare Diseases (CIBERER), addresses people directly or indirectly related to research in rare diseases, whatever their academic and professional training, both in Spain and Latin America.
The book may be downloaded in pdf format

 


 
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
Editorial Board: Valentina Bottarelli, Victoria Hedley, Yann Le Cam, Stephen Lynn, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann

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), Paul Nogueira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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