19 April 2016 print
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Editorial
 
Commission Expert Group on Rare Diseases: Recommendations to support the incorporation of rare diseases into social services and policies
 


Commission Expert Group on Rare Diseases (CEGRD) has recently published recommendations to support the incorporation of rare diseases into social services and policies. These recommendations mainly focus on empowering health services’ attempt to facilitate integrated care provision to enable them to play the role they need to play in supporting the incorporation of Rare Diseases (RD) specificities into mainstream social and support services, within a holistic and person-centred approach and a human rights perspective.

These recommendations were developed within the European Union Committee of Experts on Rare Diseases (EUCERD) Joint Action (N° 20112201) and are based on the outputs of several key publications and multi-stakeholder consultations. Leading up to the adoption of the recommendations on social services provision, there was emphasis placed by Officials on the importance of the CEGRD following up on delivery and measuring impact after an appropriate period. Below are the list of recommendations:

1. The incorporation of RD specificities into mainstream social services and policies is a necessary element to be considered in future National Plans and Strategies (NP/NS) for RD and should be incorporated when existing NP/NS are evaluated and revised.
2. Centres of Expertise have a key role in facilitating integrated care provision in line with the EUCERD recommendations on Quality Criteria for Centres of Expertise on Rare Diseases
3. European Reference Networks for RD have a key role in facilitating integrated care provision in line with the EUCERD recommendations on European Reference Networks for Rare Diseases (10)23 and the Directive on patients’ rights in cross-border healthcare
4. Member States (MS) should promote measures that facilitate multidisciplinary, holistic, continuous, person-centred and participative care provision to people living with rare diseases, supporting them in the full realisation of their fundamental human rights.
5. MS should promote measures that support patients/families affected by RD to participate in decisions regarding their care plan and their life project
6. Transfer of information between care providers, within the limits of data protection legal frameworks, should be promoted to support holistic care provision.
7. MS should promote coordination and networking between all parties involved in the care provision of persons affected by RD, including public, private and civil society organisations as well as between providers and patient/disability organisations.
8. RD specificities should be integrated into national systems assessing a person’s level of functioning, in line with the United Nations Convention on the Rights of Persons with Disabilities.
9. The elaboration and dissemination of good practices for social care in RD should be encouraged.
10. Socio-economic research in the field of RD care provision/organisation should be supported both at MS level and at European Union level.
For further information
 


 
Spotlight on...
 
Evolution of the database for medical laboratories and diagnostic tests
 
Following on with the Commission Expert Group on Rare Diseases recommendations provided on crossborder testing on rare diseases, Orphanet has just upgraded its basic medical laboratories and diagnostic tests data. This upgrade firstly represents new genetic and genomic techniques and, secondly aims to facilitate the identification of laboratories as recommended by the European Union. This represents an implementation of the RD-ACTION goals, which was designed in the spirit of integration and coherence between the data produced by Orphanet, which provides, among others, the necessary analysis towards policy recommendations, and political action that will then guide the production, operation and dissemination of this data.

This new model allows for an effective and specific research on medical laboratories and testing centres. It also incorporates, for each test, its context (prenatal, postnatal, preimplantation, etc.), the biological approach used (molecular, genetics, cytogenetics, etc.), its objective (search for specific mutations, complete sequencing study methylation, etc.) as well as the techniques used (Sanger, high-throughput sequencing, etc.). Furthermore, the model still offers a user-friendly method to filter results by country and /or quality of data of said laboratory (accreditation, external quality control). This model also helps to improve the representation of diagnostic tests by high-throughput sequencing, including the integration of tested gene panels. On the Orphanet website, these developments involve approximately 34 000 genetic tests available for 3500 rare diseases in 39 countries.
Search a diagnostic test
Search a laboratory

 
INNOVcare to address challenges and gaps towards providing social support to rare disease patients
 
INNOVCare (Innovative Patient-Centred Approach for Social Care Provision to Complex Conditions) is a European Union (EU) funded project that aims to give voice to the social needs of people living with a rare disease and support the EU and Member States in implementing necessary structural reforms of social care systems.

The project proposes and tests an innovative care pathway links health services with the social and support services that people with a rare disease and their families use on a daily basis (school, transport, leisure services etc.), ensuring the transfer of information and expertise between service providers. This pathway also centralises the coordination of care through a resource centre for rare diseases and regional case managers, in an effort to relieve the burden of care management for patients and families.

The project stems from work carried out under the EUCERD (EU Committee of Experts on Rare Diseases) Joint Action on rare diseases, which focused on mapping specialised social services across Europe and on identifying key issues to support the integration of rare diseases into mainstream social policies and services.
EURORDIS is actively involved in the development and progression of this innovative pathway. They will also analyse the social needs of people with rare diseases and of social care in Member States and facilitate the creation and governance of a European network of resource centres for rare diseases. Finally EURORDIS aims to ensure the link between INNOVCare, the rare disease community, key EU rare disease projects and relevant stakeholders.
For further information

 


 
Irdirc
 
IRDiRC recommended label for 5 more resources
 

Four TREAT-NMD resources received the “IRDiRC Recommended” label: TREAT-NMD Patient Registries, Standard Operating Procedures (SOPs) for preclinical efficacy studies, TREAT-NMD Advisory Committee for Therapeutics (TACT) and Care and Trial Site Registry (CTSR). Additionally, Online Mendelian Inheritance in Man (OMIM) has also received the label.

The TREAT-NMD global network of national registries provides a single entry point for access to patient data worldwide. The TREAT-NMD global registry contains a core set of information including accurate, verified genetic diagnosis together with key clinical data items, all updated at least annually , with submitted data curated and verified at a national level.

SOPs consist of a collection of experimental protocols for the most common outcome measures used to assess drug efficacy in models of neuromuscular disease. The SOPs were developed by a group of preclinical experts and made freely available on the net to facilitate research and as a tool to encourage research groups to choose common procedures in assessing drug or treatment efficacy by different outcome measures.

TACT is a unique multi-disciplinary international group of academic and industrial drug development experts as well as representatives of patient foundations and institutional governmental scientific research centers, who meet twice a year to review and provide guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases with large unmet need.

CTSR is aimed to help the pharmaceutical industry and clinical investigators select trial sites as well as to help to identify potential partners for upcoming research projects. The CTSR provides information relevant to clinical trials in the field of neuromuscular and neurodegenerative diseases and to the assessment of 'centers of expertise.' The CTSR collects contact data, patient cohorts, availability of diagnostic tools and equipment, personnel and their clinical trial experience, care settings as well as research and education activities of a site. Funded by the European Union Neuromics project, the CTSR was expanded in 2013 to include neurodegenerative centres and now encompasses data on patient cohorts of 32 rare diseases.

OMIM is a knowledge base of human genes and genetic phenotypes comprised of over 23,000 structured free-text entries and used weekly by 60-100,000 individuals from all over the world. OMIM names new Mendelian diseases and, in general, splits phenotypes on a molecular basis. OMIM is the gold-standard for disease-gene relationships as documented in the literature and meeting criteria described in the first reference below.

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 herehere.

 


 
EU Policy News
 
EMA
 

 
Guidance to applicants for the Horizon 2020 call to fund new therapies for rare diseases
 
Under the New therapies for rare diseases in the Horizon 2020 programme, the European Commission will provide funding to clinical trials on substances that have received an orphan designation. Orphan designation is provided by the EC based on a recommendation from the Committee of Orphan Medicinal Products (COMP), of the European Medicines Agency. Recommendations from protocol assistance provided by EMA’s Scientific Advice Working Party (SAWP) on clinical trial design are also taken into account. EMA has recently released a guidance document for prospective applicants to this call.

Applicants are advised to consider timelines for both the orphan designation and protocol assistance procedures, to determine if they can meet the deadlines set by Horizon 2020.

FIVE points to consider before submitting your application for orphan designation and protocol assistance are explained in the document by EMA, which can be accessed by clicking here.
For further information

 
DRAFT REFLECTION PAPER by the EMA on extrapolating data from adults to children to facilitate paediatric medicine development
 
The European Medicines Agency (EMA) has published a draft reflection paper titled Extrapolation of efficacy and safety in paediatric medicine development. According to the EMA this paper “outlines a systematic approach to extrapolation of data from adults or other paediatric populations to children that is considered scientifically sound and reliable to support the authorisation of a medicine (and) when, to what extent, and how extrapolation can be applied and validated.”

The document explains the principles steps taken to ensure that extrapolation to paediatric population is reliable and valid. The framework illustrates the rationale for extrapolation, how the concept for extrapolation can be defined. It then describes how a plan can be made based on the concept and finally methods to analyse the efficacy of the extrapolation. The framework also details the uncertainity and risk during extrapolating data from adults to children can be dealt with, as well as how extrapolation can be applied through the life cycle of product development.

EMA is organising a workshop on 17-18 May 2016 to gather the views from experts and stakeholders on the topic. These discussions will contribute to the further development of the draft refection paper which will released for public consultation.

EMA will also hold the 8th annual workshop on 2 June 2016 to promote high-quality clinical research to develop more and better medicines for children. This workshops is organised by the European Network of Paediatric Research at the European Medicines Agency (Enpr-EMA)

 
EMA report of the pilot on parallel regulatory-health technology assessment scientific advice
 
Another report by the European Medicines Agency (EMA) on its pilot on parallel scientific advice with health technology assessment (HTA) bodies is now available.

This initiative was set up to allow sponsors to receive simultaneous feedback on their development plans from both regulators and HTA bodies. Since data generated during clinical trials is appropriate for regulators and HTA bodies, simultaenaous feedback can lead to fewer delays in access to medicines for patients. According to EMA, there is a “high level of alignment between the requirements of regulators and HTA bodies was achieved with the parallel scientific advice procedure.”

Thus EMA has stated “parallel scientific advice with HTA bodies and other relevant stakeholders is now routinely offered as part of the Agency’s scientific advice activities.”
For further information

 


 
National & International Policy Developments
 
Other European news
 
EURORDIS launches Rare Barometer Voices to collect experiences of rare disease patients, family members and patient representatives
 


Rare Barometer Voices is a EURORDIS survey initiative available in 23 languages created to collect opinions on topics that are relevant to the patient community. After registration, participants will be sent an email to request their participation in each new survey related to specific rare disease subjects. All participants are free to decide which surveys they wish to participate in and all responses are anonymous, completely confidential, owned by EURORDIS and not used for commercial purposes.

To ensure the impact and credibility of the results of the Rare Barometer Voices surveys, as well as the fair representation of the diversity of the rare disease community (country, disease etc.), EURORDIS is seeking as many people as possible to register. Participants in Rare Barometer Voices surveys should come from one of the 48 European continent countries.

Register now and encourage people from your network to register via:
www.eurordis.org/voices Through this programme, EURORDIS aims to:
• Make the voice of rare disease patients stronger
• Produce evidence on topics to feed advocacy work of the rare disease community
• Inform legislation and policy on topics relevant to rare disease patients
• Promote and improve research on patients' perspectives
For further information

 
Ivacaftor accounted for 86% of Scotland’s Rare Conditions Medicines Fund’s budget in 2013-2014
 


The Sunday Herald recently reported that 86% of the budget of the Rare Conditions Medicines Fund (RCMF) was used to fund ivacaftor (Kalydeco) for people with a rare form of cystic fibrosis. RCMF was launched in 2013, with a £21 million endowment to fund 45 medicines for rare conditions that are not reimbursed by the Scottish Medicines Consortium, an NHS body that makes decisions on whether patients should have access to new drugs. According to The Sunday Herald, in the 2013-2014 period, £18.6 million out of the £21 million was spent on ivacaftor, the second highest spend was £660,000 on eculizumab, which treats haemolytic uraemic syndrome, followed by £455,000 on cancer drug pomalidomide. Ivacaftor is thought to cost around £180,000 a year per patient, thus restarting the conversation on the price charged by Vertex Pharmaceuticals on this drug.

It should be noted that the RCMF has since been replaced with the New Medicines Fund which has committed £80m for 2015/2016 to support patients needing rare or end-of-life treatments and Ivacaftor accounts for a much smaller proportion of this budget.
For further information

 
Undiagnosed Diseases Network International
 
The Undiagnosed Disease Network (UDN) is an extension of the Undiagnosed Diseases Program (UDP) set up by the National Institutes of Health (NIH). The Undiagnosed Diseases Network International (UDNI) is modeled in part after the NIH UDP, which is a collaborative effort encompassing many countries around the globe. The UDNI involves centers with internationally recognised expertise, a Patient Advisory group and scientific resources with the aim to fill the knowledge gaps that impede diagnosis. Read in OrphaNews

The Italian Health Institute (Istituto Superiore di Sanità, ISS www.iss.it) is coordinating a bilateral project Italy (ISS) - USA (NIH) on undiagnosed rare diseases funded by the Italian Ministry of Foreign affairs and Cooperation. The project, led by the Italian National Centre for Rare Diseases (ISS) aims to provide a diagnosis to patients. This task will be accomplished through collaboration between NIH-USA and four clinical centers of the Italian Network for Rare Diseases (Turin, Milan, Udine, Rome).

The Italian Telethon Foundation is launching a pilot project for the analysis of undiagnosed genetic diseases. The Telethon Undiagnosed Diseases Program (UDP) pursues the goal of providing a diagnosis to paediatric patients with a genetic disease without a name. This task will be accomplished through collaboration among three Italian clinical centers in Rome, Monza and Naples, coordinated by the Telethon Institute of Genetics and Medicine (Tigem) in Pozzuoli – Naples, where the genetic analysis will take place.

 
Over €13 million requested for Connecting Europe Facility Telecom programme
 
Earlier this year, the European Commission set up a call for Connecting Europe Facility (CEF) Telecom programme, wherein they received proposals from national contact points for eHealth (NCPeH) or from authorities setting up a NCPeH.

EU member states have requested over €13 million in EU funding to set up a crossborder network to exchange Patient Summaries and ePrescriptions, even though the initial budget in the field of transEuropean telecommunications for eHealth generic services is €7.5 million.

With the requested budget, the Member State run contact points propose to offer a secure peer to peer network allowing the exchange of Patient Summaries and ePrescriptions, which will pave the way to reach the following objectives: seamless crossborder care, patient safety and provision of information.
For further information

 
Other International News
 
India denies patent on cystic fibrosis drug Orkambi, saying the drug is not novel
 
The Indian Patent Office has refused a patent to Vertex Pharma for its cystic fibrosis therapy Orkambi. Orkambi is a combination of lumacaftor and ivacaftor (Kalydeco) which tackles two different genetic mutations, thus treating the underlying cause of the disease. The patent application was made by Vertex Pharma in 2010, for which a pre-grant opposition was made by the Indian Pharmaceutical Alliance. India’s Patent Office’s concluded that “the claimed polymorphic forms and process of preparation in the absence of better efficacy result are considered as mere new form and process respectively and thus, not patentable under section 3(d)”.

Orkambi has an orphan drug designation in the United States, and its patent application is under review. The drug does not have an orphan designation in the European Union but is “intended for grant” by the European Patent Office. This ruling could mean that generic versions of Orkambi will become available in India, even the drug is still rolling out its product in other world markets
Article on this subject in TwoFour Insight.
Decision made by the patent office in 2014.

 
Australian adults living with rare diseases face considerable challenges
 
An article published in the Orphanet Journal of Rare Diseases has elucidated the experiences of Australian adults living with rare diseases, which underscores the need for a National Plan for rare diseases in Australia. Here the authors found that a considerable number of the respondents assessed by them had to visit 3 or more doctors before they received a confirmed diagnosis and many had to wait 5 or more years for a diagnoses. Additionally there were many weaknesses in information provision to these patients. A large number of patients visited general practitioner, specialists and hospitals. The authors also found that less than a third of the respondents were aware of a registry or clinical trials for their disease.

The authors believe that these results demonstrate that “not all healthcare needs of people living with rare diseases are being met,” recommending changes to the Australian healthcare systems to cater to rare disease patients as well.
Read the Open Access article

 
Guidance Documents and Recommendations
 
Giant cell arteritis: recommendations on the management
 
Consult the Pubmed abstract
 
To read more about "Giant cell arteritis"

 
Rev Med Interne. ; 37(3):154-65 ; March 2016
 


 
Orphanet News
 
HIPBI-RD project: complete integration of ORDO and HPO
 


HIPBI-RD (Harmonising phenomics information for a better interoperability in the Rare Disease field) is a project funded under E-Rare 3 with the aim to fully intergate the rare diseases ontology produced by Orphanet (ORDO) and the phenotypes ontology produced by Peter Robinson from the Human Phenotype Ontology (HPO) in order to provide access to an ontologies ecosystem allowing for better interoperability between clinical and genetic data for rare diseases. This ecosystem will be continuously enriched by data-mining of the literature and from the direct input of genotype and phenotype data from PhenoTips. On the other hand, it will be available for re-use and will feed tools allowing for clinical and genetic diagnosis such as the Phenomiser and the Genomiser.

HIPBI-RD is coordinated by Orphanet, and brings together major actors in the field : HPO (Peter Robinson, Germany), PhenoTips (Mike Brudno, Canada), European Bioinformatics Institute (Helen Parkinson, United Kingdom) and the Garvan Institute (Tudor Groza, Australia). This project, funded for 3 years, had its kick-off meeting along with the RD-CONNECT meeting in Barcelona on 9 March, 2016.
For further information

 


 
New Syndromes
 



 
Global developmental delay, hypotonia, scoliosis, and cerebellar atrophy linked to variants in EMC1
 
Using whole-exome sequencing, the authors identified homozygous variants in EMC1 that segregated with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three families. In addition, a de novo heterozygous EMC1 variant was seen in an individual with a similar clinical and MRI imaging phenotype.
Consult the Pubmed abstract

 
Am J Hum Genet. ; 98(3):562-70 ; March 2016
 
Female-specific recognisable syndrome with developmental delay and congenital malformations caused by de novo loss-of-function mutations in USP9X
 
The authors reported 17 females with de novo loss-of-function mutations in USP9X. The females had a specific phenotype that included intellectual disability/developmental delay, characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities.
Consult the Pubmed abstract

 
Am J Hum Genet. ; 98(2):373-81 ; February 2016
 
Two novel type 2 congenital disorders of glycosylation due to deficiencies in CCDC115 and TMEM199
 
In a first article, the authors described a family with three siblings affected by abnormal Golgi glycosylation. Exome sequencing revealed a homozygous missense mutation in CCDC115. The same mutation was identified in three unrelated families, and in one family it was compound heterozygous in combination with a heterozygous deletion of CCDC115. An additional homozygous missense mutation was found in a family with two affected siblings. All individuals displayed a storage-disease-like phenotype involving hepatosplenomegaly, which regressed with age, highly elevated bone-derived alkaline phosphatase, elevated aminotransferases, and elevated cholesterol, in combination with abnormal copper metabolism and neurological symptoms. Two individuals died of liver failure, and one individual was successfully treated by liver transplantation.
In a second article, the authors analysed raw exome-sequencing data from families affected by genetically unsolved congenital disorders of glycosylation and identified four individuals with different mutations in TMEM199. The adolescent individuals presented with a mild phenotype of hepatic steatosis, elevated aminotransferases and alkaline phosphatase, and hypercholesterolemia, as well as low serum ceruloplasmin. Affected individuals showed abnormal N- and mucin-type O-glycosylation, and mass spectrometry indicated reduced incorporation of galactose and sialic acid.
Consult the Pubmed abstracts

 
Am J Hum Genet. ; 98(2):310-21; 322-30 ; February 2016
 
Infancy-onset recurrent metabolic crises with encephalocardiomyopathy associated with mutations in TANGO2
 
In two articles, an infancy-onset episodic metabolic crises characterised by encephalopathy, hypoglycemia, rhabdomyolysis, arrhythmias, and laboratory findings suggestive of a defect in mitochondrial fatty acid oxidation is described. Exome sequencing revealed bi-allelic mutation in TANGO2.
Consult the Pubmed abstracts

 
Am J Hum Genet. ; 98(2):358-62; 347-57 ; February 2016
 
Thrombocytopenia, myelofibrosis, bleeding, and bone pathologies caused by a dominant gain-of-function mutation in SRC in nine patients
 
The authors used genome sequencing and Human Phenotype Ontology patient coding to identify a gain-of-function mutation in SRC in nine cases. Patients presented thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Consult the Pubmed abstract

 
Sci Transl Med. ; 8(328):328ra30 ; March 2016
 


 
New Genes
 



 
Autosomal dominant non-syndromic intellectual disability linked to STXB1 and UBE3A
 
Consult the Pubmed abstract
 
To read more about "Autosomal dominant non-syndromic intellectual disability"

 
Clin Genet. ; [Epub ahead of print] ; February 2016
 
6q16 deletion syndrome associated with mutations in POU3F2
 
Consult the Pubmed abstract
 
To read more about "6q16 deletion syndrome"

 
Am J Hum Genet. ; 98(2):363-72 ; February 2016
 
Undetermined early-onset epileptic encephalopathy linked to a homozygous nonsense variant in NAPB in a girl
 
Consult the Pubmed abstract
 
To read more about "Undetermined early-onset epileptic encephalopathy"

 
Clin Genet. ; 89(2):E1-3 ; February 2016
 
Autosomal dominant Robinow syndrome caused by de novo frameshift variants in DVL3 in five unrelated individuals
 
Consult the Pubmed abstract
 
To read more about "Autosomal dominant Robinow syndrome"

 
Am J Hum Genet. ; 98(3):553-61 ; March 2016
 
Encephalocraniocutaneous lipomatosis due to mosaic activating mutations in FGFR1 in two individuals
 
Consult the Pubmed abstract
 
To read more about "Encephalocraniocutaneous lipomatosis"

 
Am J Hum Genet. ; 98(3):579-87 ; March 2016
 
Split hand-split foot-deafness syndrome caused by mutations in ZAK in two unrelated families
 
Consult the Pubmed abstract
 
To read more about "Split hand-split foot-deafness syndrome"

 
Genome Res. ; 26(2):183-91 ; February 2016
 
Idiopathic infantile hypercalcemia linked to autosomal-recessive mutations in SLC34A1
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive infantile hypercalcemia"

 
J Am Soc Nephrol. ; 27(2):604-14 ; February 2016
 
Late-onset polyglucosan body myopathy associated with a homozygous mutation in GYG1 in five patients
 
Consult the Pubmed abstract
 
To read more about "Polyglucosan body myopathy"

 
Neuromuscul Disord. ; 26(1):16-20 ; January, 2016
 
Prenatal spinal muscular atrophy and congenital bone fractures linked to mutations in TRIP4 and ASCC1 in four families
 
Consult the Pubmed abstract
 
Am J Hum Genet. ; 98(3):473-89 ; March 2016
 
Prader-Willi-like syndrome: MRAP2 as a candidate gene
 
Consult the Pubmed abstract
 
To read more about "Prader-Willi-like syndrome"

 
Mol Genet Metab. ; 117(3):383-8 ; March 2016
 


 
Research in Action
 



 
Clinical Research
 
Sickle cell disease: prasugrel does not decrease the rate of vaso-occlusive events among children and adolescents
 
Consult the Pubmed abstract
 
To read more about "Sickle cell anemia"

 
N Engl J Med. ; 374(7):625-35 ; February 2016
 
Late-onset Pompe disease: 3D analysis of the chest wall motion is a reliable and non-invasive monitoring tool
 
Consult the Pubmed abstract
 
To read more about "Glycogen storage disease due to acid maltase deficiency, late-onset"

 
Neuromuscul Disord. ; 26(2):146-52 ; February 2016
 
Fragile X syndrome: mavoglurant does not improve behavioural symptoms
 
Consult the Pubmed abstract
 
To read more about "Fragile X syndrome"

 
Sci Transl Med. ; 8(321):321ra5 ; January, 2016
 
Pulmonary arterial hypertension: selexipag reduces the risk of death and complications
 
Consult the Pubmed abstract
Consult this Danish study on Orphanet
Consult this French study on Orphanet
Consult this US study on Orphanet

 
To read more about "Pulmonary arterial hypertension"

 
N Engl J Med. ; 373(26):2522-33 ; December 2015
 
Acquired thrombotic thrombocytopenic purpura: caplacizumab induces a faster resolution of acute episodes than placebo
 
Consult the Pubmed abstract
 
To read more about "Acquired thrombotic thrombocytopenic purpura"

 
N Engl J Med. ; 374(6):511-22 ; February 2016
 
Ocular myasthenia gravis: prednisone treatment is safe and effective
 
Consult the Pubmed abstract
 
To read more about "Myasthenia gravis"

 
Muscle Nerve. ; 53(3):363-9 ; March 2016
 
GNE myopathy: sialic acid may stabilise muscle strength
 
Consult the abstract
 
To read more about "Distal myopathy, Nonaka type"

 
Journal of Neuromuscular Diseases ; 3(1):49-66 ; March 2016
 
Ebola haemorrhagic fever: transfusion of convalescent plasma is not associated with a significant improvement in survival
 
Consult the Pubmed abstract
 
To read more about "Ebola hemorrhagic fever"

 
N Engl J Med. ; 374(1):33-42 ; January, 2016
 
Dengue fever: the vaccine TV003 elicits complete protection
 
Consult the abstract
 
To read more about "Dengue fever"

 
Science Translational Medicine ; 8(330):330ra36 ; March 2016
 
Acute steroid-refractory graft versus host disease: mitigated results with the treatment with mesenchymal stem cells
 
Consult the Pubmed abstract
 
To read more about "Acute graft versus host disease"

 
Stem Cells ; 34(2):357-66 ; February 2016
 
Chronic graft versus host disease: antilymphocytic globulin prevents the apparition of the disease but does not improve survival
 
Consult the Pubmed abstract
 
To read more about "Chronic graft versus host disease"

 
N Engl J Med. ; 374(1):43-53 ; January, 2016
 
Chronic lymphocytic leukaemia: ibrutinib is superior to chlorambucil
 
Consult the Pubmed abstract
Consult the study on Orphanet

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

 
N Engl J Med. ; 373(25):2425-37 ; December 2015
 
Acute myeloid leukaemia: stem cell microtransplantation combined with decitabine and chemotherapy may provide a novel, effective and safe treatment
 
Consult the Pubmed abstract
 
To read more about "Acute myeloid leukemia"

 
Stem Cells Transl Med. ; 5(4):524-9 ; August 2016
 
Idiopathic pulmonary fibrosis: treatments with nintedanib, pirfenidone and sildenafil extend survival
 
Consult the Pubmed abstract
 
To read more about "Idiopathic pulmonary fibrosis"

 
BMC Med. ; 14(1):18 ; February 2016
 
Fabry disease: agalsidase-β dose-reduction and/or switch to agalsidase-α show a decline in patients’ renal function
 
Consult the Pubmed abstract
 
To read more about "Fabry disease"

 
J Am Soc Nephrol. ; 27(3):952-62 ; March 2016
 
Mucopolysaccharidosis type 1: enzyme replacement therapy improves cardiac contractility
 
Consult the Pubmed abstract
 
To read more about "Mucopolysaccharidosis type 1"

 
Mol Genet Metab. ; 117(3):373-7 ; March 2016
 
Maple syrup urine disease: living or deceased related donor liver transplantation represents viable alternatives to nutritional management
 
Consult the Pubmed abstract
 
To read more about "Maple syrup urine disease"

 
Mol Genet Metab. ; 117(3):336-43 ; March 2016
 
Desmoid tumour: sulindac and selective estrogen receptor modulators are effective and safe treatments
 
Consult the Pubmed abstract
 
To read more about "Desmoid tumor"

 
Fam Cancer. ; 15(1):31-40 ; January, 2016
 
Therapeutic Approaches
 

 
Niemann-Pick disease type C: chronic administration of histone deacetylase inhibitors treats both neurological and systemic disease in a mouse model
 
Consult the Pubmed abstract
 
To read more about "Niemann-Pick disease type C"

 
Sci Transl Med. ; 8(326):326ra23 ; February 2016
 
Osteogenesis imperfecta type 4: restoration of the serum level of SERPINF1 does not correct the bone phenotype in mice
 
Consult the Pubmed abstract
 
To read more about "Osteogenesis imperfecta type 4"

 
Mol Genet Metab. ; 117(3):378-82 ; March 2016
 
Duchenne muscular dystrophy: genome editing improves muscular function in a mouse model
 
Consult the Pubmed abstracts
 
To read more about "Duchenne muscular dystrophy"

 
Science ; 351(6271):400-3; 403-7; 407-11 ; January, 2016
 
Duchenne muscular dystrophy: positive effects of bisphosphonates on bone and muscle in a mouse model
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Neuromuscul Disord. ; 26(1):73-84 ; January, 2016
 
Ebola haemorrhagic fever: protective monotherapy with an antibody cocktail and monoclonal antibodies in macaques
 
Consult the Pubmed abstracts
 
To read more about "Ebola hemorrhagic fever"

 
Science ; 351(6279):1339-42; 1078-83 ; March 2016Sci Transl Med. ; 8(329):329ra33 ; March 2016

 
Monogenic disorders: review on patient-derived stem cell research
 
Consult the Pubmed abstract
 
Stem Cells ; 34(1):44-54 ; January, 2016
 
Inherited eye disease: review on patient-specific stem cells
 
Consult the Pubmed abstract
 
To read more about "Retinitis pigmentosa"
To read more about "Leber congenital amaurosis"

 
Stem Cells Transl Med. ; 5(2):132-40 ; February 2016
 
Systemic sclerosis: review on utility and limitations of animal models
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
Curr Rheumatol Rep. ; 18(1):4 ; January, 2016
 
Duchenne muscular dystrophy: review on murine models
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
Journal of Neuromuscular Diseases ; 3(1):29-48 ; March 2016
 
Congenital muscular dystrophies: review on animal models
 
Consult the Pubmed abstract
 
Neuromuscul Disord. ; 26(3):252-9 ; March 2016
 
X-linked intellectual disability: novel mouse model
 
Consult the Pubmed abstract
 
Cell Rep. ; 14(5):1000-9 ; February 2016
 
Diagnostic Approaches
 

 
Review on non-Duchenne muscular dystrophy-positive and false negative results in newborn screening programs
 
Consult the Pubmed abstract
 
To read more about "Duchenne muscular dystrophy"

 
JAMA Neurol. ; 73(1):111-6 ; January, 2016
 
Cerebral amyloid angiopathy: validation of clinicoradiological criteria for the diagnosis of inflammation
 
Consult the Pubmed abstract
 
To read more about "ITM2B amyloidosis"

 
JAMA Neurol. ; 73(2):197-202 ; February 2016
 
Otopalatodigital spectrum disorders: foetal phenotypes
 
Consult the Pubmed abstract
 
To read more about "Otopalatodigital syndrome"
To read more about "Otopalatodigital syndrome type 1"
To read more about "Otopalatodigital syndrome type 2"
To read more about "Melnick-Needles syndrome"

 
Clin Genet. ; 89(3):371-7 ; March 2016
 
Carnitine palmitoyltransferase II deficiency should be considered when faced with a fœtus with Dandy-Walker anomaly or another brain dysgenesis
 
Consult the Pubmed abstract
 
To read more about "Carnitine palmitoyltransferase II deficiency"

 
Clin Genet. ; 89(2):193-7 ; February 2016
 
Guillain-Barré syndrome: early neurological evaluation is associated with improved clinical diagnosis
 
Consult the Pubmed abstract
 
To read more about "Guillain-Barré syndrome"

 
Muscle Nerve ; 53(3):384-7 ; March 2016
 
Electrical impedance myography discriminates congenital muscular dystrophy from controls
 
Consult the Pubmed abstract
 
To read more about "Congenital muscular dystrophy"
To read more about "Congenital muscular dystrophy type 1A"
To read more about "Ectodermal dysplasia, trichoodontoonychial type"

 
Muscle Nerve ; 53(3):402-6 ; March 2016
 


 
Patient Management and Therapy
 
Sickle cell disease: Cochrane review on Haemophilus influenza type b vaccines
 
Consult the Pubmed abstract
 
To read more about "Sickle cell anemia"

 
Cochrane Database Syst Rev. ; 2:CD011199 ; February 2016
 
Mucopolysaccharidosis type 2: Cochrane review on enzyme replacement therapy with idursulfase
 
Consult the Pubmed abstract
 
To read more about "Mucopolysaccharidosis type 2"

 
Cochrane Database Syst Rev. ; 2:CD008185 ; February 2016
 
Buerger disease: Cochrane review on pharmacological treatment
 
Consult the Pubmed abstract
 
To read more about "Buerger disease"

 
Cochrane Database Syst Rev. ; 3:CD011033 ; March 2016
 
Complex regional pain syndrome type 1 and 2: Cochrane review on physiotherapy for pain and disability
 
Consult the Pubmed abstract
 
To read more about "Complex regional pain syndrome type 1"
To read more about "Complex regional pain syndrome type 2"

 
Cochrane Database Syst Rev. ; 2:CD010853 ; February 2016
 
Autoimmune renal diseases: two review on treatments
 
Consult the Pubmed abstracts
 
Nat Rev Nephrol. ; 12(4):205-16; 217-31 ; April 2016
 
Acromegaly: review on treatments
 
Consult the Pubmed abstract
Consult the abstract

 
To read more about "Acromegaly"

 
Nat Rev Endocrinol. ; 12(2):90-8 ; February 2016
Expert Review of Endocrinology & Metabolism ; 11(2):171-75 ; February 2016
 
Hereditary breast and ovarian cancer syndrome: review on risk-reducing surgery
 
Consult the Pubmed abstract
 
To read more about "Hereditary breast and ovarian cancer syndrome"

 
N Engl J Med. ; 374(5):454-68 ; February 2016
 
Chronic myeloid leukaemia: review on allogeneic transplantation
 
Consult the Pubmed abstract
 
To read more about "Chronic myeloid leukemia"

 
Nat Rev Clin Oncol. ; 13(2):79-91 ; February 2016
 
Inherited thrombocytopenias: three reviews on diagnosis and treatment
 
Consult the Pubmed abstracts
 
Clin Genet. ; 89(2):154-62; 141-53 ; February 2016
 
Leigh syndrome: review on clinical and genetic heterogeneity
 
Consult the Pubmed abstract
 
To read more about "Leigh syndrome"

 
Mol Genet Metab. ; 117(3):300-12 ; March 2016
 
Peroxisome biogenesis disorder-Zellweger syndrome spectrum: review on diagnosis, clinical manifestations and treatment guidelines
 
Consult the Pubmed abstract
 
To read more about "Peroxisome biogenesis disorder-Zellweger syndrome spectrum"

 
Mol Genet Metab. ; 117(3):313-21 ; March 2016
 
Rosaï-Dorfman disease: review on cardiac involvement
 
Consult the Pubmed abstract
 
To read more about "Rosaï-Dorfman disease"

 
Intractable Rare Dis Res. ; 5(1):1-5 ; February 2016
 
PFAPA syndrome: review on the pathogenesis
 
Consult the Pubmed abstract
 
To read more about "PFAPA syndrome"

 
Curr Rheumatol Rep. ; 18(4):18 ; April 2016
 
Narcolepsy: a review
 
Consult the Pubmed abstract
 
To read more about "Narcolepsy-cataplexy"
To read more about "Narcolepsy without cataplexy"

 
N Engl J Med. ; 373(27):2654-62 ; December 2016
 
Systemic sclerosis: two reviews on cellular therapies and management of renal crisis
 
Consult the Pubmed abstracts
 
To read more about "Systemic sclerosis"

 
Curr Rheumatol Rep. ; 18(2):12 ; February 2016
Curr Rheumatol Rep. ; 18(1):5 ; January, 2016
 
Systemic sclerosis-associated pulmonary arterial hypertension: review on the treatment
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
Curr Rheumatol Rep. ; 18(2):10 ; January, 2016
 
Systemic sclerosis: review on nucleosomes
 
Consult the Pubmed abstract
 
To read more about "Systemic sclerosis"

 
Nat Rev Rheumatol. ; 12(3):138-9 ; March 2016
 
Relapsing polychondritis: review on pathogenesis, clinical features, diagnostic tools and therapeutic perspectives
 
Consult the Pubmed abstract
 
To read more about "Relapsing polychondritis"

 
Curr Rheumatol Rep. ; 18(1):3 ; January, 2016
 
Hypophosphatasia: a review
 
Consult the Pubmed abstract
 
To read more about "Hypophosphatasia"

 
Nat Rev Endocrinol. ; 12(4):233-46 ; April 2016
 
Neuralgic amyotrophy: review on diagnosis, pathophysiology and treatment
 
Consult the Pubmed abstract
 
To read more about "Neuralgic amyotrophy"

 
Muscle Nerve ; 53(3):337-50 ; March 2016
 
Autosomal recessive limb-girdle muscular dystrophy: review on clinical trials
 
Consult the Pubmed abstract
 
To read more about "Autosomal recessive limb-girdle muscular dystrophy"

 
Neuromuscul Disord. ; 26(2):111-25 ; February 2016
 
Colorectal adenomatous polyposis: review on genetic determinism, clinical presentation and recommendations for care
 
Consult the Pubmed abstract
 
To read more about "Familial adenomatous polyposis"

 
Bull Cancer. ; 103(2):199-209 ; February 2016
 
Special issue of ‘Seminars in Cells & Developmental Biology’ on rare genetic disorders
 
Consult the special issue
 
Seminars in Cell & Developmental Biology ; 52(1-132) ; April 2016
 
Special issue of ‘Handbook of Clinical Neurology’ on gliomas
 
Consult the special issue
 
Handbook of Clinical Neurology ; 134(2-446) ; 2016
 
Three new and three 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. Three new GeneReviews have been published for:
Xq28 duplication syndrome
Hartsfield syndrome
Kindler syndrome

Three updated GeneReviews have been published for:
Cold-induced sweating syndrome including Crisponi syndrome
Cardiofaciocutaneous syndrome
Myopathy with deficiency of ISCU

 


 
Orphan Drugs
 
Treatment for hepatic venoocclusive disease in patients who receive stem cell transplant from blood or bone marrow approved by the FDA
 

The U.S. Food and Drug Administration approved Defitelio (defibrotide sodium) to treat adults and children who develop hepatic venoocclusive disease (VOD) with additional kidney or lung abnormalities after they receive a stem cell transplant from blood or bone marrow called hematopoietic stem cell transplantation (HSCT). This is the first FDA approved therapy for treatment of severe hepatic VOD, a rare and life threatening liver condition.

Hepatic VOD is a condition in which some of the veins in the liver become blocked, causing swelling and a decrease in blood flow inside the liver. It can occur in patients who receive chemotherapy and HSCT. According to the FDA, although only around 2% of HSCT patients develop this complication, in 80% of them it is fatal.

Defitelio has been launched for this indication since 2014 in Europe, where a large chunk of the cost of the drug can be offset by reduced time in intensive care units.
here.

 
Recently, the EMA has recommended three orphan medicinal products for marketing authorisation in the European Union
 
The EMA recommends Galafold for the treatment of Fabry disease for marketing authorization
The European Medicines Agency (EMA) has recommended granting a marketing authorisation in the European Union (EU) for Galafold (migalastat) for the treatment of Fabry disease, a rare genetic disorder.

Patients with Fabry disease do not have enough of an enzyme called alphagalactosidase A, which breaks down a fatty substance called globotriaosylceramide (GL3). This leads to including severe conditions such as kidney failure, heart problems and increased risk of strokes.

Galafold is the first oral treatment for Fabry disease which acts as a 'pharmacological chaperone' by binding to the defective alphagalactosidase A enzyme, allowing it to be transported to where its action is needed and restore its activity. However, Galafold can be used only in patients with specific mutations of the disease which are known to be responsive to the active substance in the medicine, migalastat.
For further information

Gene therapy for the treatment of children with ADA-SCID recommended for approval
The European Medicines Agency (EMA) has also recommended a Strimvelis for the treatment of patients with adenosinedeaminase deficient severe combined immunodeficiency (ADA-SCID), who have no matching donor for a stem cell transplant for marketing authorisation.

ADA-SCID is an ultrarare immune disorder, caused by a faulty gene inherited from both parents that stops the production of adenosine deaminase. Children born with ADA-SCID are severely impaired with virtually no immunity to fight off infections as well as several non-immunological health problems. The disease is usually fatal in the first two years of life, unless the function of the immune system can be restored.

Typically, ADA-SCID sufferers who receive stem cell transplants from genetically matched siblings have a good chance of survival and recovery of the immune system. However, survival of patients who have no related matched donor is poor, mainly because of the risk of graft versus host disease. Strimvelis is manufactured from a patient’s own immature bone marrow cells (called CD34+ cells) into which a normal adenosine deaminase enzyme gene has been inserted.
For further information

Darzalex recommended for conditional marketing authorization by the EMA to treat patients with multiple myeloma
Another medicine, Darzalex (daratumumab) has been recommended for conditional marketing authorization by the European Medicines Agency (EMA) for the treatment of adults with relapsed and refractory multiple myeloma. This drug is recommended for use in patients whose condition worsened with the treatment that included a proteasome inhibitor and an immunomodulatory agent (other types of cancer medicines). Multiple myeloma is a rare cancer of plasma cells, which results in the complications such as infections, anaemia, bone pain and fractures, raised blood calcium levels and kidney dysfunction.
For further information

 


 
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

 
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

 
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.

 
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

 
International Call for Translational Research Projects focused on RNA as therapeutic target or as therapeutic product
 
AFM-Téléthon is pleased to announce the launching of its first international call for proposals for Translational Research Projects on RNA as therapeutic target or as therapeutic product. This call is open to any research project aimed at accelerating promising research towards innovative therapies for neuromuscular and rare disorders, using RNA-based therapeutic or RNA as therapeutic target. Application deadline for proposals is 28 June 2016; announcement of awards is expected by end of December 2016 - mid January 2017.

If you are interested in applying to this new Therapeutic RNA Call, please follow the proposal preparation instructions on the AFM-Téléthon website If you have any queries regarding the call or the application process, please contact Jean-François Briand at jfbriand@afm-telethon.fr or +33 (0)1 69 13 22 29

 


 
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

 
Summer School Medical Genetics 2016 - From Next-Generation Sequencing to Translational Medicine in Neurological Disease Research
 
Date: 25-27 July, 2016
Venue: Tuebingen, Germany

Next-generation sequencing technology is profoundly changing the way of medical genetics research. Mining the generated rich and complex data to benefit patient health requires cross-disciplinary research efforts at the nexus of medicine, biology, and informatics.

With this Summer School, we focus precisely this multi-disciplinary interface, point out synergistic potential, and cover the entire process from clinical phenotyping, to NGS data analysis, to clinical and genetic follow-ups, to functional validations in model systems, and to finally guide development of therapies and (personalized) clinical applications. A particular focus will be on neurological disorders such as Parkinson's disease, dystonias, ataxias, and related brain disorders.

The course is tailored towards PhD students and PostDocs working in the fields of biology, neuroscience, biochemistry, experimental medicine, and bioinformatics as well as clinicians, particularly medical doctors at the beginning of their specialization. The application deadline is May 27 2016.
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?
 

 
Myotubular Trust European Family Conference and Workshop 2016
 
Date: 6 May, 2016
Venue: Niedernhausen, Germany

Workshops include updates on the European Natural History Study; RYR1 in adults; pre-implantation genetic diagnosis; update from Audentes Therapeutics on gene therapy clinical trials for MTM1; outcome measures for trials in MTM1; Galileo vibration plates for muscle training; and Myotubular and Centronuclear Myopathy Patient Registry.
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

 
8th Alström Syndrome International Family Conference, Scientific Symposium, and Medical Clinic
 
Date: 12-13 May, 2016
Venue: Massachusetts, United States

Attendees expected include families and children from 40 states and 15 countries, and the conference simultaneously streams live in multiple languages over the internet. In addition, the effort will bring together top leaders from the global scientific and medical community to share advances in research, treatment options and information related to Alström Syndrome.
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

 
FDA Small Business Regulatory Education for Industry
 
Date: 17-18 May, 2016
Venue: Minnesota, USA

The goal of this conference is to provide direct, relevant, and helpful information on the key aspects of drug and device regulations. Our primary audience is that of small manufacturers of drug and/or device medical products who want to learn about how FDA approaches the regulation of drugs and devices.
PLENARY SESSION: FDA Insights on Products for Rare Diseases and Pediatrics
For further information

 
ECRIN's meeting on International Clinical Trials Day
 
Date: 20 May, 2016
Venue: Prague, Czech Republic

The 2016 celebration of International Clinical Trials Day aims to increase awareness of ECRIN and its Czech national scienti􀃖c partner – Czech Clinical Research Infrastructure Network (CZECRIN) – among Czech policymakers and the scientific community, as well as to address issues related to personalised medicine and multinational clinical trials.
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

 
8th International WASOG Conference on Diffuse Perenchymal Lung Diseases
 
Date: 2-4 June, 2016
Venue: Gdansk, Poland

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

 
9th International Cystinosis Congress
 
Date: 30 June - 3 July, 2016
Venue: Valencia, Spain

In collaboration with the Excellence in Pediatrics Institute, the Cystinosis Foundation is pleased to bring you a new and exciting conference format in response to your expressed interests.
For further information

 
19th Retina International World Congress in Taipei, Taiwan
 
Date: 13-14 July, 2016
Venue: Taipei, Taiwan

The Congress is organised by Retinitis Pigmentosa Taipei assisted by long-time Retina International member, Retina Hong Kong.
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

 
World Federation of Hemophilia
 
Date: 24-28 July, 2016
Venue: Orlando, United States

This is the largest international meeting for the global bleeding disorders community.
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

 
ERS International Congress 2016
 
Date: 3-7 September, 2016
Venue: London, United Kingdom

Covering key topics in respiratory medicine from across the spectrum of disease areas including TB, lung cancer, pneumonia, cystic fibrosis, COPD, and asthma amongst others, the Congress is the best place to build skills and knowledge through hearing the latest topics in the field.
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:
 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 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

 


 
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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Disclaimer : This newsletter is part of the project / joint action .677024 / RD-ACTION. which has received funding from the European Union.s Health Programme (2014-2020).
The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

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