5 April 2016 print
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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
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



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

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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