21 April 2015 print
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2nd National Action Plan For Rare Diseases of the 10 year Czech National strategy

A ten-year Czech National Strategy for Rare Diseases was approved by the Czech government in 2010 for the country's rare disease patients, estimated to be roughly 20,000 out of 10.5 million habitants. The Czech strategy outlines existing efforts and proposes major targets and measures for improving the situation in the Czech Republic, to be subsequently specified in more detail in the context of a three-year national action plan that establishes sub-tasks, instruments, responsibilities, dates and indicators for fulfilling individual tasks.

In the National Action Plan for Rare Diseases for the period 2015-2017 (NAP2) emphasis is especially placed on the support of early identification and diagnosis, on the further centralisation of care for rare disease patients, the unification and development of data collection and the creation of standards of care for patients with rare diseases, as well as on the improvement of awareness and education in rare diseases on continuity with the already established foreign cooperation and on establishing new contacts, and on the connecting Czech rare disease centres with common European databases and registers aggregating clinical and laboratory data. An emphasis is also placed towards joining international rare disease research projects (such as E-rare2 and/or Horizon 2020 funding schemes), domestic research projects as part of the Agency for Healthcare Research and the development of cross-border diagnostic and medical care in accordance with the provisions of the Directive on Patients' Rights in Cross-Border Care, which was transposed into Czech legislation in 2014.

The strategy also includes plans for the establishment of centres for home care, social subsidised hospital beds, respite centres and rehabilitation facilities, and the expansion of long-term care beds with trained personnel and special equipment to improve the quality of life and social inclusion of rare disease patients. The strategy also asks for attention to be placed toward effective and timely pharmacotherapy of rare disease following internationally-accepted standards and recommended approaches, and increasing the education and awareness on RD issues among the medical professionals and the public at large.
Read the 2nd Czech National Action Plan

Spotlight on...
Rare Diseases in ICD11: progress and pitfalls
Because of their individual rarity, genetic diseases and other types of rare diseases are under-represented in healthcare coding systems; this contributes to a lack of ascertainment and recognition of their importance for healthcare planning and resource allocation, and prevents clinical research from being performed. It is why the European Commission supported, from 2007 on, the development by Orphanet of an inventory of rare diseases and a classification system which could serve as a template to update International terminologies. When the World Health Organization (WHO) launched the revision process of the International Classification of Diseases (ICD), a Topic Advisory Group for rare diseases was established in 2009, managed by Orphanet and funded by the European Commission. Five years later, 5,400 rare diseases listed in the Orphanet database have an endorsed representation in the foundation layer of ICD-11, and are thus provided with a unique identifier in the Beta version of ICD-11, which is 10 times more than in ICD10.The current beta version is open for public consultation and comments, and to be used for field testing. The adoption by the World Health Assembly is planned for 2018.

The authors of an article published in the Orphanet Journal of Rare Diseases describe the work carried out during the past years with very limited means considering the scope, ambition and strategic significance of the revision of ICD. They report significant hurdles and setbacks. The lack of funding impacted the level of professionalism that could be attained. The contrast between the initially declared goals and the currently foreseen final product is disappointing even if it is a satisfaction to see that most rare diseases will have a specific code.

The authors also reported that, due to uncertainty around the outcome of the field testing and the potential willingness of countries to adopt this new version, the European Commission Expert Group on Rare Diseases adopted in November 2014 a recommendation for health care coding systems to consider using ORPHA codes in addition to ICD10 codes for rare diseases having no specific ICD10 codes.

The Orphanet terminology, classifications and mappings with other terminologies are freely available at www.orphadata.org.
Read the open access article


National & International Policy Developments
Other European news
A new paediatric institute for rare diseases launched in Barcelona, Spain
Sant Joan de Déu-Barcelona Children's Hospital, in Barcelona, Spain has launched a Paediatric Institute for Rare Diseases (IPER) which will offer unified medical care for patients with rare diseases. The aim of IPER is also to obtain a quick diagnosis for the children who do not currently have a diagnosis. IPER will concentrate its efforts on translational research into diagnosis and treatment of rare diseases as soon as possible. One of the leading IPER tools is RareCommons, a 2.0 platform which connects patients and researchers to work together in the research. This new Institute is managed by Francesc Palau, who is currently the Scientific Director at the Centre for Biomedical Network Research on Rare Diseases (CIBERER).
For more information

UK Genetic Testing Network new test recommendations open for public consultation
The latest recommendations from the UK Genetic Testing Network (UKGTN) on new genetic tests for which NHS funding should be made available are open for public consultation. The proposed new genetic tests would be used within specialised or highly specialised clinical services, and the UKGTN’s view is that funding these tests would lead to cost savings for the NHS, thanks in part to reduced costs of testing thanks to next-generation sequencing (NGS) technologies, but also to avoiding the need for additional diagnostic tests and making it easier to identify affected family members. The consultation is part of a wider 30 day NHS England public consultation into proposed new products, specifications and clinical commissioning policies for specialised services.
Read the document

Other International News
Turkey makes progress in providing access of oncological orphan drugs
According to a press release by KANKO (Cancer Coalition of Turkey), a prolonged lobbying and follow up efforts by them resulted in the increased access of oncological orphan drugs in Turkey. The change in regulations will mean that patients can overcome the barrier of access to orphan drugs. KANCOs previous efforts have lead to the reimbursement of all orphan drugs, regardless of their market authorisation status. Thus, a pharmaco-economic analysis does not have to be presented to the Social Security Institution (Sosyal Güvenlik Kurumu) for reimbursement decisions on orphan drugs. Until now the law and the regulations only permitted that orphan drugs are imported and distributed through the Turkish Pharmacists’ Association—Türk Eczacıları Birliği (following The Turkish Medicines and Medical Device Agency—Türkiye ilaç ve Tıbbi Cihaz Kurumu (TITCK) approval of this drug). The pricing is controlled by Turkish Social Security Institution (SGK) which is reimbursing Agency and updates pricing every 6 months. Although there is still a problem with the commercial distribution monopoly and the extended waiting periods to access orphan drugs and this is now almost resolved. The modified regulations will allow orphan drugs to be imported and distributed by private agencies with accreditation.
Read the press release from KANKO

I ORD conference highlights the current state of rare diseases patients in India
The Indian Organization for Rare Diseases held a conference in March this year to raise awareness on rare diseases at all levels and especially at the governmental level. The conference commenced with the presentation of a white paper on rare diseases to the former president of India, Dr. APJ Abdul Kalam, who also inaugurated the conference and acknowledged the need to coordinate efforts on rare disease at national level. Several rare disease stakeholders, represented by patients in the first place, attended the conference, including pharmaceutical companies.

Much interest was garnered by the presentation of Dr. Gayatri Rao, director of the FDA Office of Orphan Products Development, who illustrated the FDA perspective on orphan drugs, especially by the industrial delegates. The presentation on the International Rare Disease Research Consortium (IRDiRC) by Dr. Lucia Monaco of the Italian Telethon Foundation brought an international collaborative perspective to the meeting. The three thematic round tables on hemoglobinopathies, lysosomal storage diseases and inborn errors of metabolism, held by Indian clinicians and experts, allowed sharing with patients relevant information on the clinical management of patients affected by those diseases, and also illustrated the difficult scenario concerning rare disease in India, where no legal definition of rare diseases is available yet and access to genetic counselling and to molecular diagnosis or other diagnostic tests is scattered and very costly, as no public funding is devoted to rare diseases. Overall, the presentations prompted questions and raised hopes for effective actions among all stakeholders attending the meeting.
Go to the I ORD website
Read the White paper prepared by I ORD

Orphan drugs legislation in Latin America
F1000 Research has published a review that contrasts the market access issues associated with orphan drug status in Europe and the United States to the legislation in five Latin American (LA) countries that have made strides in this regard--Mexico, Brazil, Colombia, Chile and Argentina. The article describes the legislation in different Latin American countries which include the five countries mentioned above that use the EU definition of rare diseases, Brazil –which have with their own definition of rare diseases and the legislation is Peru which currently does not have a definition for rare diseases.

Even though Latin American countries have come relatively “late to the game” in terms of legislation surrounding rare diseases, the authors believe adopting similar strategies as the orphan drug legislation in the EU and US, would bring success with regard to rare diseases and drug development. The authors believe that “recommendations for the harmonisation of orphan drug development in LA with that of developed nations include adopting the EU definition of rare disease, instituting incentives for industry, and establishing a special technical subgroup for rare diseases that considers the unique challenges of rare diseases, among other techniques”.
Read the PubMed abstract

Top 10 inspirational figures in asia’s orphan drug industry
Terrapin has published the top 10 personalities in Asia that are playing key roles in building access to orphan drugs in Asia Pacific region. These include patients, caregivers, researchers and policy makers from China, Taiwan, Japan, Philippines, South Korea as well as India. They have been recognised for their commitment towards advocating for rare disease patients in respect of medication, education, and employment and better quality of life as a whole.
For more information

NIH/NCATS/GRDR Common Data Elements
An article published in the Contemporary Clinical Trials presents the manner in which NIH/NCATS GRDR programme serves as a central web-based global data repository and the development of a set of Common Data Elements (CDEs), which are controlled terminologies that represent collected data the use of which facilitates the integration of patient information. The article reviews the programme which integrates de-identified patient clinical data from rare disease registries, EHR, clinical data and other data sources, in a standardised manner, to be available to researchers for conducting various biomedical studies, including clinical trials and to support analyses within and across diseases.

According to the authors, the establishment of the GRDR program has elevated the issue of data standardisation and interoperability for rare disease patient registries, to international attention, resulting in a global dialogue and significant change in the mindset of registry developers, patient advocacy groups, and other national and international organisations. The authors also delineate the additional tools and other resources developed through the GRDR program, to accelerate the rate of establishing high quality patient registries in a standardized manner, will be shared and disseminated.
For more details check
https://grdr.ncats.nih.gov. Access to GRDR CDEs is freely available to download here.
Read the PubMed abstract

Guidance Documents and Recommendations
Familial Mediterranean fever: recommendations for genetic diagnosis
Consult the Pubmed abstract
To read more about "Familial Mediterranean fever"

Ann Rheum Dis. ; 74(4):635-641 ; April 2014
Bioinformatics, Registries and Data Management
An automatically populated database of exome variant-calling and annotation in Mendelian disorders
A recent publication in BMC Genomics describes the development of a database of variations collected from patients with Mendelian disorders freely available online at http://exome.tigem.it. This unique database to automatically populate due to an associated exome-sequencing pipeline that identifies, annotates and stores insertions, deletions and mutations in the database. The exome-sequencing pipeline has been designed using state-of-the-art software tools to run on a computing cluster to simultaneously analyse several samples. The detected variants are annotated with the standard variant annotations as well as with “allele frequencies across samples progressively collected in the database itself, stratified by Mendelian disorder”.
Read the open access article

Scripps Idiopathic Diseases of Man study
The authors of an article published by the Genetics in Medicine furnishes information on the ongoing Scripps Idiopathic Diseases of Man (IDIOM) study. The study uses whole genome sequencing to help determine the causes of idiopathic human diseases that defy a diagnosis or are unresponsive to standard treatments. It aims to do this by means of “genome sequencing integrated with clinical assessment and multidisciplinary case review”. Out of 121 cases reviewed by the principal investigators 17 patients and their family members were enrolled to determine a molecular diagnosis. The authors reported that 60% of cases had a plausible molecular diagnosis, and 18% of cases had a confirmed molecular diagnosis.
Read the PubMed abstract

Integrating ontologies of rare diseases and radiological diagnosis
A study published in Journal of the American Medical Informatics Association describes the integration of Orphanet Rare Disease Ontology (ORDO) with the Radiology Gamuts Ontology (RGO). The authors utilised semi-automated string-matching for ORDO terms to RGO terms leading to the matches of 1587 terms. Additional 700 ORDO terms whose names were hyphenated lists of phenotypic features were added to RGO with causal links from the disease name to the various features. The authors found integrating these ontologies expanded the set of terms and scope of knowledge available for radiological differential diagnosis and that the terms that were matched were more likely to have higher disease prevalence.
Read the PubMed abstract


Ethical, Legal & Social Issues
The supportive care needs of parents caring for a child with a rare disease
Disability and Health Journal has published a study identifying the supportive care needs of parents with a child with rare diseases, irrespective of condition. The authors conducted a scoping study of 29 studies, examining the research literature related to the supportive care needs of parents. They then used the Supportive Care Needs Framework (SCNF) as the structure and, and compared the literature identified needs with the seven domains outlined in the SCNF. Most commonly cited needs in these studies were social needs, followed by informational needs and emotional needs, with the most common parental needs overall being information about their child’s disease, emotional stress, guilt and uncertainty about their child’s future health care needs, parents own caring responsibilities and the need for more general support. The authors also found that using the SCNF for parents of a child with a rare disease is challenging as some needs fitted well, while other do not. The authors conclude that there is an urgent to develop of a revised parental SNCF, specifically addressing the supportive care needs of parents of children with rare diseases, irrespective of the condition.
Read the Abstract

Platform for Engaging Everyone Responsibly awardees announced
Platform for Engaging Everyone Responsibly (PEER) enables individuals to share health information with researchers and each other on their own terms to advance an understanding of health and disease, and to accelerate the development of cohorts for clinical trials. Recently Genetic Alliance announced the fifteen awardees for Phase I of its initiative to create a ‘white label’ of the PEER, through a $500,000 Robert Wood Johnson Foundation grant awarded to Genetic Alliance. The ‘white label’ will result in a simple online dashboard that will enable future groups to customize PEER for a specific use, and make it more user friendly and culturally appropriate for their members. These awardees will work with Genetic Alliance and technology partner Private Access to develop and refine the ‘white label’ PEER while engaging their communities to cost effectively expand participant centric health research. Another fifteen organizations will be awarded a PEER installation later in the year. Interested organizations should contact Genetic Alliance for further information. For more information about this grant visit: www.geneticalliance.org/rwjfpeer.


Orphanet News
The Orphanet Journal of Rare Diseases app now available on Google Play and iOS
Orphanet Journal of Rare Diseases is the official journal of Orphanet, the portal for rare diseases and orphan drugs. Orphanet Journal of Rare Diseases is a peer-reviewed open access journal published by BioMed Central. This premier journal published cutting edge research and development in all areas of rare disease work. Now you can access the most recent developments for rare diseases and orphan drugs on the palm of your hand using the app produced by the Orphanet Journal of Rare Diseases. This free app provides valuable features including:

- Save and share articles
- Advanced search
- Document details - including abstracts
Download the app on your Android or iPhone.

New Syndromes

Novel syndrome of microcephaly, intellectual disability and recognizable syndromic features due to heterozygous mutations in KAT6A
The authors of two articles reported a syndrome caused by de novo heterozygous truncating mutations in KAT6A in nine independent families. Common features included primary microcephaly, intellectual disability, hypotonia, profound speech delay, and craniofacial dysmorphism, as well as more varied features such as feeding difficulties, cardiac defects, and ocular anomalies.
Consult the Pubmed abstracts

Am J Hum Genet. ; 96(3):498-506 ; March 2015Am J Hum Genet. ; 96(3):507-13 ; March 2015
PLACK syndrome, characterized by peeling skin, leukonychia, acral punctuate keratoses, cheilitis and knuckle pads, is caused by loss-of-function mutations in CAST
The authors showed that loss-of-function mutations in CAST are the genetic causes of an autosomal-recessive condition in three families of different ethnicities. This syndrome is characterized by generalized peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, which they proposed to be given the acronym PLACK syndrome.
Consult the Pubmed abstract

Am J Hum Genet. ; 96(3):440-7 ; March 2015
Autosomal recessive infantile-onset neurodegenerative disorder with axonal neuropathy, optic atrophy and cognitive deficit, likely caused by homozygous mutations of STXBP5L
The authors reported siblings of consanguineous parents with an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive deficit. Their clinical, genetic and molecular data suggest that STXBP5L variant is the likely cause of the disorder.
Consult the Pubmed abstract

Hum Mol Genet. ; 24(7):2000-10 ; April 2014
Characteristic facial features, intellectual disability, autistic behaviors and epilepsy linked to de novo EEF1A2 mutations

The authors described two patients with de novo mutations in EEF1A2. Two other patients with the same mutations shared common clinical features: severe intellectual disability, autistic behaviour, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly. Furthermore, the two patients described by the authors showed similar characteristic facial features including a depressed nasal bridge, tented upper lip, everted lower lip and downturned corners of the mouth. These data strongly indicate that a new recognizable disorder is caused by EEF1A2 mutations.
Consult the Pubmed abstract
Clin Genet. ; 87(4):356-61 ; April 2014
New brain tumor entity with ependymal and astrocytic features associated with ALK fusion genes
By combining karyotyping and RNA sequencing, the authors identified the two first ever reported ALK rearrangements in central nervous system tumors. Such rearrangements may represent the hallmark of a new entity of pediatric glioma characterized by both ependymal and astrocytic features.
Consult the Pubmed abstract

Neuro Oncol. ; [Epub ahead of print] ; March 2015
Autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems caused by homozygous SLC6A17 mutations
The authors reported on Dutch and Iranian families with affected individuals who presented with moderate to severe intellectual disability and additional phenotypes including progressive tremor, speech impairment, and behavioural problems in certain individuals. A combination of exome sequencing and homozygosity mapping revealed homozygous mutations in SLC6A17.
Consult the Pubmed abstract

Am J Hum Genet. ; 96(3):386-96 ; March 2015
Microcephalic primordial dwarfism without overt immunodeficiency due to biallelic mutations of XRCC4 in five families
The authors reported the identification of biallelic mutations in XRCC4 in five families. These alterations gave rise to a phenotypic spectrum characterized by microcephalic primordial dwarfism without overt immunodeficiency.
Consult the Pubmed abstract

Am J Hum Genet. ; 96(3):412-24 ; March 2015

New Genes

Cole-Carpenter syndrome caused by a heterozygous missense mutation in P4HB in two individuals
Consult the Pubmed abstract
To read more about "Cole-Carpenter syndrome"

Am J Hum Genet. ; 96(3):425-31 ; March 2015
Cole-Carpenter associated with heterozygous mutations in SEC24D in three individuals from two families
Consult the Pubmed abstract
To read more about "Cole-Carpenter syndrome"

Am J Hum Genet. ; 96(3):432-9 ; March 2015
Recessive ataxia with oculomotor apraxia type 4 caused by mutations in PNKP in nine Portuguese families
Consult the Pubmed abstract
Am J Hum Genet. ; 96(3):474-9 ; March 2015
X-linked non-photosensitive trichothiodystrophy associated with a nonsense mutation in RNF113A in a family
Consult the Pubmed abstract
To read more about "Trichothiodystrophy"

J Med Genet. ; 52(4):269-74 ; April 2014
Cavitary optic disc anomalies due to heterozygous triplication of MMP19 in a family
Consult the Pubmed abstract
Hum Mutat. ; 36(3):369-78 ; March 2015
Autosomal recessive lissencephaly with cerebellar hypoplasia associated with a loss-of-function mutation in CDK5 in a consanguineous Israeli Moslem family
Consult the Pubmed abstract
Hum Genet. ; 134(3):305-14 ; March 2015
Proximal myotonic myopathy phenotype may be enhanced by SCN4A mutations
Consult the Pubmed abstract
To read more about "Proximal myotonic myopathy"

Neuromuscul Disord. ; 25(4):301-7 ; April 2014
Isolated spina bifida: LRP6 variants could potentially predispose embryos to neural tube defects
Consult the Pubmed abstract
To read more about "Isolated spina bifida"

Hum Mutat. ; 36(3):342-9 ; March 2015
Cleft lip with or without cleft palate: implication of functional variants in or near PAX7, FGFR2, and NOG as primary contributory risk alleles
Consult the Pubmed abstract
To read more about "Cleft lip with or without cleft palate"

Am J Hum Genet. ; 96(3):397-411 ; March 2015
Autosomal recessive Stickler syndrome: LOXL3 as a novel candidate gene
Consult the Pubmed abstract
To read more about "Autosomal recessive Stickler syndrome"

Hum Genet. ; 134(4):451-3 ; April 2014
Silver-Russell syndrome: RB1 and ANKRD11 as novel candidate genes
Consult the Pubmed abstract
To read more about "Silver-Russell syndrome"

Hum Genet. ; 134(3):317-32 ; March 2015

Research in Action
Clinical Research

Pulmonary arterial hypertension: treatment with imatinib cause significant improvements in echocardiographic measures of right ventricular function
Consult the Pubmed abstract
To read more about "Pulmonary arterial hypertension"

Eur Heart J. ; 36(10):623-32 ; March 2015
Idiopathic pulmonary fibrosis: double-lung transplantation is associated with better graft survival than single-lung transplantation
Consult the Pubmed abstract
To read more about "Idiopathic pulmonary fibrosis"

JAMA ; 313(9):936-48 ; March 2015
Immune thrombocytopenic purpura: mitigated results with the combination of rituximab and recombinant human thrombopoietin
Consult the Pubmed abstract
To read more about "Immune thrombocytopenic purpura"

Blood ; 125(10):1541-7 ; March 2015
Glycogen storage disease due to acid maltase deficiency: increased alglucosidase alfa dose may be beneficial in some patients experiencing motor decline
Consult the Pubmed abstract
To read more about "Glycogen storage disease due to acid maltase deficiency"

Neuromuscul Disord. ; 25(4):321-32 ; April 2014
Phenylketonuria: sapropterin therapy improves attention deficit-hyperactivity disorder and is well-tolerated
Consult the Pubmed abstract
To read more about "Phenylketonuria"

Mol Genet Metab. ; 114(3):415-24 ; March 2015
T-cell prolymphocytic leukemia: allogeneic hematopoietic stem cell transplantation may allow long-term survival following induction treatment
Consult the Pubmed abstract
To read more about "T-cell prolymphocytic leukemia"

Eur J Haematol. ; 94(3):265-9 ; March 2015
Multiple sulfatase deficiency: improved prediction of the disease outcome and appropriate care for patients
Consult the abstract
To read more about "Multiple sulfatase deficiency"

Hereditary cerebral cavernous malformation: exceptional aggressiveness associated with PDCD10 mutations
Consult the Pubmed abstract
To read more about "Familial cerebral cavernous malformation"

Genet Med. ; 17(3):188-96 ; March 2015
Therapeutic Approaches

Mucopolysaccharidosis type 1: neonatal bone marrow transplantation prevents bone pathology in a mouse model
Consult the Pubmed abstract
To read more about "Mucopolysaccharidosis type 1"

Blood ; 125(10):1662-71 ; March 2015
Mucopolysaccharidosis type 3B: biochemical, histological and functional correction by intra-cerebrospinal fluid gene therapy in mice and dogs
Consult the Pubmed abstract
To read more about "Sanfilippo syndrome type B"

Hum Mol Genet. ; 24(7):2078-95 ; April 2014
Cushing disease: the C-terminal HSP90 inhibitor restores glucocorticoid sensitivity and alleviates symptoms in an allograft mouse model
Consult the Pubmed abstract
To read more about "Cushing disease"

Nat Med. ; 21(3):276-80 ; March 2015
Ochoa syndrome: novel mouse model with dysfunctional urination
Consult the Pubmed abstract
To read more about "Ochoa syndrome"

Hum Mol Genet. ; 24(7):1991-9 ; April 2014
Diagnostic Approaches

Fragile X and fragile X-associated tremor/ataxia syndromes: best practice guidelines for the molecular genetic testing and reporting
Consult the Pubmed abstract
To read more about "Fragile X syndrome"
To read more about "Fragile X-associated tremor/ataxia syndrome"

Eur J Hum Genet. ; 23(4):417-25 ; April 2014
Marked hyperferritinemia does not predict for hemophagocytic syndrome in the adult population
Consult the Pubmed abstract
To read more about "Hemophagocytic syndrome"

Blood ; 125(10):1548-52 ; March 2015
Fabry disease: plasma globotriaosylsphingosine (LysoGb3) could be a reliable diagnostic tool
Consult the Pubmed abstract
To read more about "Fabry disease"

J Med Genet. ; 52(4):262-8 ; April 2014
Review of the brain, optic nerve, and spinal cord MRI findings of neuromyelitis optica and its spectrum disorder
Consult the Pubmed abstract
To read more about "Neuromyelitis optica"

Neurology ; 84(11):1165-1173 ; March 2015

Patient Management and Therapy
Sickle cell anemia: review on renal manifestations
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

Nat Rev Nephrol. ; 11(3):161-171 ; March 2015
Progressive multifocal leukoencephalopathy: review on immunosuppressive therapies
Consult the Pubmed abstract
To read more about "Progressive multifocal leukoencephalopathy"

Nat Rev Rheumatol. ; 11(2):119-23 ; February 2015
Huntington disease: review on orphan drugs in development
Consult the abstract
To read more about "Huntington disease"

Orphan Drugs: Research and Reviews ; (5):1-9 ; February 2015
Cystic fibrosis: Cochrane review on vitamin K supplementation
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Cochrane Database Syst Rev. ; 18;1:CD008482 ; January, 2015
Mutilating palmoplantar keratoderma with periorificial keratotic plaques: review on clinical, molecular and therapeutic aspects
Consult the abstract
To read more about "Mutilating palmoplantar keratoderma with periorificial keratotic plaques"

Orphanet Journal of Rare Diseases ; [Epub ahead of print] ; March 2015
Paroxysmal nocturnal hemoglobinuria: review on pathophysiology, diagnosis and treatment
Lire le résumé
To read more about "Paroxysmal nocturnal hemoglobinuria"

Eur J Haematol. ; [Epub ahead of print] ; March 2015
Congenital myasthenic syndromes: review on pathogenesis, diagnosis and treatment
Consult the Pubmed abstract
Lancet Neurol. ; 14(4):420-434 ; April 2014
Hyperornithinemia-hyperammonemia-homocitrullinuria: a review
Consult the abstract
To read more about "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"

Orphanet Journal of Rare Diseases ; [Epub ahead of print] ; March 2015
Woolly hair: a review
Consult the Pubmed abstract
To read more about "Woolly hair"

J Med Genet. ; 52(4):217-223 ; April 2014
Medulloblastoma: Cochrane review on chemotherapy for children
Consult the Pubmed abstract
To read more about "Medulloblastoma"

Cochrane Database Syst Rev. ; 1:CD006678 ; January, 2015
Precursor B-cell acute lymphoblastic leukemia: review on antibody-based therapies
Consult the Pubmed abstract
To read more about "Precursor B-cell acute lymphoblastic leukemia"

Eur J Haematol. ; 94(2):99-108 ; February 2015
Review on hematopoietic autologous stem cell transplantation in lymphoid malignancies in Europe
Consult the Pubmed abstract
Eur J Haematol. ; 94(1):12-22 ; January, 2015
Hodgkin lymphoma: Cochrane review on positron emission tomography-adapted therapy for first-line treatment
Consult the Pubmed abstract
To read more about "Hodgkin lymphoma"

Cochrane Database Syst Rev. ; 1:CD01053 ; January, 2015
Classic Hodgkin lymphoma: review on management in pregnancy
Consult the Pubmed abstract
To read more about "Classic Hodgkin lymphoma"

Br J Haematol. ; [Epub ahead of print] ; February 2015
Gamma-delta T-cell lymphoma: a review
Consult the Pubmed abstract
To read more about "Primary cutaneous gamma/delta-positive T-cell lymphoma"

Eur J Haematol. ; 94(3):206-18 ; March 2015
Langerhans cell sarcoma: a review
Consult the Pubmed abstract
To read more about "Langerhans cell sarcoma"

Cancer Treat Rev. ; [Epub ahead of print] ; March 2015
One new and eight 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:
Congenital mirror movements

Eight updated GeneReviews have been published for:
Laing distal myopathy
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
TARDBP-related amyotrophic lateral sclerosis
Camurati-Engelmann disease
GTP cyclohydrolase 1-deficient dopa-responsive dystonia
L1 syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency


Orphan Drugs
Regulatory News
FDA approves Cholbam to treat rare bile acid synthesis disorders

The U.S. Food and Drug Administration approved Cholbam (cholic acid) capsules for the treatment of paediatric and adult patients with bile acid synthesis disorders due to single enzyme defects, and as an adjunct to standard of care for patients with peroxisomal disorders (including Zellweger spectrum disorders) with evidence of liver disease, based on improvements in liver function.

The absence of cholic acid in these patients leads to reduced bile flow, accumulation of potentially toxic bile acid intermediates in the liver (cholestasis), and malabsorption of fats and fat soluble vitamins in the diet. If untreated, patients fail to grow and can develop life threatening liver injury. CHOLBAM is the first medication approved by the FDA to turn off a genetically-damaged bile synthesis pathway and prevent its toxic products from damaging the liver. The manufacturer of Cholbam was granted a rare paediatric disease priority review voucher.
Read the FDA press release



The Ataxia of Charlevoix-Saguenay Foundation
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. Application Deadline: May 22, 2015
For further information

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


Partnersearch, Job Opportunities
PhD fellowships from Kindness for Kids foundation
In collaboration with EuroBioBank and RD-Connect this PhD fund a PhD project that uses an in vitro experiment to help develop a new treatment in the area of rare paediatric diseases. For the project to be eligible, patient biomaterials from EuroBioBank and/or RD-Connect should be used in the study. The PhD project should develop or test a new treatment, identify therapeutic targets or employ a screening platform in the area of rare paediatric diseases using in vitro experiments. The experimentations of the PhD project must be to a major extent based on samples from a biobank associated with EuroBioBank and/or RD-Connect. Further collaborations with these two initiatives are strongly encouraged. The application has to be emailed in English as pdf attachments by June 15th 2015 to Dr. Julia Barske.

Courses & Educational Initiatives

Date: 1-5 June, 2015
Venue: Barcelona, Spain

ExPRESS 2015 is the name of the exciting new programme for the upcoming annual EURORDIS Summer School. ExPRESS, which stands for Expert Patients and Researchers EURORDIS Summer School, will gather for the first time both researchers and patient representatives who will be trained together. The trainers are from patient organisations, research institutes and the European Medicines Agency. The four-day training programme develops the capacity of patients' advocates to act as experts in regulatory processes and further their implication in medicines development and advocacy actions both at the national and European levels.
For further information contact Nancy Hamilton
Visit the EURORDIS website for more information.

3rd radiz Rare Diseases Summer School
Date: 1-3 July, 2015
Venue: Zurich, Switzerland

The 3rd 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 summer school will contain lectures by national and international rare disease experts, workshops, and poster presentations by participants.
Visit the EURORDIS website for more information.

The 2nd Biennial Australian Rare Lung Disease Short Course
Date: 16-17 October, 2015
Venue: Sydney, Australia

The joint venture between Lung Foundation Australia and the Thoracic Society of Australia and New Zealand (TSANZ) will provide updates on the latest in research, diagnosis, therapy and care for Interstitial Lung Disease. The program boasts an exceptional selection of Australian specialists as well as keynote presentations from international speaker, Professor Kevin Flaherty (USA).
For further information or to register please visit: www.lungfoundation.com.au.

Courses offered by Recordati Rare Diseases Foundation
The Recordati Rare Diseases Foundation is offering five courses planned for next year. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrd-foundation.org/www.rrd-foundation.org.
The changing spectrum of IMD: surviving longer and growing old with IMDs
Date: 21-23 May, 2015
Venue: Washington DC, US

Children’s Hospital of Pittsburgh, the Division of Medical Genetics and Children’s National, Department of Genetics and Metabolism.
Registration deadline: 8th April

Classification and diagnostic approach of IMD affecting the synthesis and remodelling of complex lipids
Date: 24-26 June 2015
Venue: Paris, France

in partnership with the Pitié-Salpêtrière Hospital Pierre et Marie Curie University Paris VI; the Academic Medical Center, University of Amsterdam and the University Children’s Hospital of Zurich.
Registration deadline: 13th May

Genetic congenital heart diseases
Date: 7-9 October 2015
Venue: Rome, Italy

in partnership with Bambino Gesù Children’s Hospital, Rome
Registration deadline: 27th August

Neurotransmitter focus course
Date: 9-10 November 2015
Venue: Venice, Italy

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


What's on Where?

3rd Asia-Pacific Prader-Willi Syndrome Conference 2015: From Better Start to Better Living
Date: 11-12 April, 2015
Venue: Melbourne, Australia

The theme of this conference is “From better start to better living” and will provide an opportunity for scientists, professionals, parents and caregivers to join together, providing a forum to share expertise.
For further information

Genetic insider: 1st International congress on Clinical Genetics and Genetic Counselling
Date: 16-17 April, 2015
Venue: Seville, Spain

Genetic Insider The connection platform among European and American clinical professionals and industry, to promote the necessary partnership networks for rare diseases.
For further information

3Gb-TEST course on NGS: Next-generation sequencing in a diagnostic setting
Date: 20-23 April, 2015
Venue: Prague, Czech Republic

A 4-day course on Next Generation Sequencing in Prague - Czech Republic in the period of 20-23th April 2015. The focus of the course is on clinical diagnostics using exome/genome sequences, variant identification and analysis including afternoon practicals (limited places). The course will also include an evening symposium co-organised by Milan Macek; “Genotranslation: Interpretation of genome data in diagnostics”.
For further information

13th International Symposium on Mutation in the Genome: detection, genome sequencing & interpretation
Date: 27 April, 2015
Venue: Leiden, Netherlands

The meeting aims to present the latest developments in the field, the best methodologies for scanning, sequencing, bioinformatic, analysis and functional testing.
For further information

2nd International GENCODYS Conference on Integrative Networks in Intellectual Disabilities
Date: 27-29 April, 2015
Venue: Crete, Greece

European funded research consortium GENCODYS exploits a multilevel approach to resolve the integrative networks in intellectual disabilities. The conference will bring together about 150 top researchers, medical doctors and patient representatives in the field of Cognitive Research and related activities.
Talks and submissions for talks have to be related to studies of cognitive dysfunction but can include other fields, namely genetics, cellular, molecular and physiological studies, genomics and epigenomics and bioinformatics.
For further information

6th International conferences on ectodermal dysplasia
Date: 27-30 May, 2015
Venue: Oslo, Norway

The conference will attract medical and dental clinicians and researchers from many countries in addition to patient organisation leaders from all over the world.
For further information

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

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

The European Human Genetics Conference 2015
Date: 6-9 June, 2015
Venue: Scotland, United Kingdom

The European Human Genetics Conference is a forum for all workers in human and medical genetics to review advances and develop research collaborations.
For further information

34th Annual European Malignant Hyperthermia Group (EMHG) Meeting
Date: 11-13 June, 2015
Venue: Lille, France

The topics will cover all the fields of interest in malignant hyperthermia, such as invitrocontracturetesting, genetics, clinical and experimental issues, updates and forthcoming projects. The scientific program of the European Malignant Hyperthermia Group (EMHG) will be on state-of-the-art presentations in our field as well as new insights into basic science, clinical research and therapeutic interventions.
For further information

22nd International Meeting of the Pediatric Colorectal Club 2015
Date: 13-15 June, 2015
Venue: Milan, Italy

This meeting aims to provide up to date clinical and scientific information on all aspects of paediatric colorectal disease to practicing paediatric surgeons, nurses and parents’ Associations.
For further information

International Myotonic Dystrophy Consortium Meeting (IDMC)
Date: 8-12 June, 2015
Venue: Paris, France

This consortium will bring together not only scientists and clinicians but also family associations and patients.
For further information

Tourette Syndrome Congress 2015
Date: 24-26 June, 2015
Venue: London, UK

The 1st World Congress on Tourette Syndrome and Tic Disorders is designed for linicians, researchers , post-doctoral fellows, medical residents and allied healthcare professionslas with an interest in current research, diagnosis and treatment of these and related conditions.
For further information

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

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

Orphan Drugs & Rare Diseases Global Congress
Date: 29 June- 1 July, 2015
Venue: London, United Kingdom

This conference provides a unique platform for an intimate & interactive knowledge sharing and convergence of top tier government, pharmaceuticals, biopharmaceuticals, hospitals, non-profit organisations, orphan drugs developers as well as regional and local manufacturers to discuss the driving macroeconomic factors, policies and issues that will steer the development of orphan drugs globally.
For further information

The First Russian Congenital Aniridia Conference
Date: 3-4 July, 2015
Venue: Salzburg, Austria

The conference will aim at sharing knowledge and experience about Congenital Aniridia by increasing the dialogue between patients and doctors about the problems of congenital aniridia.
For further information

10th European Cytogenetics Conference
Date: 4-7 July, 2015
Venue: Strasbourg, France

The 10th European Cytogenetics Conference allows all cytogeneticists from Europe and further afield to come together to hear about and discuss the most exciting developments ranging from applications in prenatal or cancer diagnosis to chromosome biology in epigenetics and evolution.
For further information

4th Congress on Mitochondrial Medicine
Date: 9-10 July, 2015
Venue: Salzburg, Austria

The meeting addresses the importance of mitochondrial pathology in neurology, pediatrics and beyond. An overview on the newest research developments and important clinical aspects will be provided. Deadline for the submission of scientific abstracts is May 15th and for early registration is June 1st.
For further information

10th International Conference: One Carbon Metabolism, vitamins B and Homocysteine
Date: 7-11 July, 2015
Venue: Nancy, France

The conference will deal with a very interdisciplinary program joining leading scientists from biochemical, experimental and clinical medical area. It will cover the most advanced research on One Carbon Metabolism, Homocysteine and related coenzymes and vitamins, including folate, vitamin B12 (cobalamins), vitamin B6 (pyridoxine) and choline in the fields of biochemistry, metabolism, nutrition, epidemiology and experimental and clinical medicine.
For further information

4th International RASopathies Symposium
Date: 17-19 July, 2015
Venue: Washington, US

This conference will bring together caregivers, clinicians, patients, researchers and pharmas with an aim to expedite treatments and cures for the RASopathies.
For further information

Glycoproteinoses: Fourth International Conference on Advances in Pathogenesis and Therapy
Date: 23-26 July, 2015
Venue: Missouri, US

The Fourth International Conference on the Glycoproteinoses will bring together leading investigators from around the world to discuss the latest advances in understanding the pathophysiology of these rare disorders and the status of the development of new therapies.
For further information

SSIEM Official Satellite Symposia Second World Conference on Congenital Disorders of Glycosylation
Date: 28-30 August, 2015
Venue: Lyon, France

This conference aims to raise awareness about Congenital Disorders of Glycosylation (CDG) around the world and to foster an exceptional collaborative model involving patients, family members, researchers and physicians.
For further information

26th European Dysmorphology Meeting
Date: 9-10 September, 2015
Venue: Le Bischenberg, France

The principal aim of this meeting has been to bring young clinical geneticists and trained dysmorphologists together to share their professional experiences and present their clinical challenges. EuroDysmorpho is open to any presentation in the field of human development.
For further information

Tyrosinemia 2015
Date: 24-26 September, 2015
Venue: Quebec, Canada

The Quebec parent association (GAETQ) is organizing an international conference on Tyrosinemia. The objective is to share and update our knowledge regarding this disease and its impacts on the medical world. Tyrosinemia was identified fifty years ago and used to greatly diminish the life expectancy of children affected. Now the disease is well controlled, thanks to NTBC.
For further information

The PANDAS 2015
Date: 26 September, 2015
Venue: Lake Como, Italy

Presentations of the latest scientific advances in the diagnosis and treament of PANS/PANDAS shall include topics touching immunology, rheumatology, neurology, child psychiatry, psychology and more.
For further information

8 International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases
Date: 30 September – 3 October, 2015
Venue: Dresden, Germany

This meeting will offer numerous opportunities to convene with experts on FMF and other auto-inflammatory diseases. This meeting hopes to welcome more than 400 participants from all over the world to discuss the latest scientific and clinical developments, including new treatment options.
For further information

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

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

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

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

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

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

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


Commercial events

10th annual World Stem Cells & Regenerative Medicine Congress
Date: 20-22 May, 2015
Venue: Maryland, USA

Discover and understand how industry leaders view the clinical and commercial futures of stem cells and regenerative medicine and the effect it will have on business.
For further information

Pan-Omics Summit
Date: 21-22 May, 2015
Venue: Massachusetts , US

Representatives from big pharma, academic institutions, and government research labs will present data on advances in new technology and case studies on therapeutic targets, molecular diagnostics, and integration of complex data.
For further information

2nd Metabolomics - Advances & Applications in Human Disease Conference
Date: May 21-22, 2015
Venue: Massachusetts, US

This event will present new research and offers networking opportunities with the researchers and scientists who are working on developing clinical assays, connecting the metabolome and the genome, and establishing common quality standards for experimental data.
For further information

World Orphan Drug Congress Asia 2015
Date: 3-4 June, 2015
Venue: Singapore

This event will bring together specialised biotechs/pharmas, government, payers, investors & patient groups in one platform, this event offers a unique opportunity to increase brand visibility amongst the rare disease industry in Asia.
For further information

Date: 17-18 September, 2015
Venue: Copenhagen, Denmark

This conference will bring together different groups of stakeholders on specifically selected topics to help them build relationships and reach their goals.


Media, Press & Publications
EMA launches book on its 20th anniversary
On the occasion of its 20th anniversary, the European Medicines Agency (EMA) have released a book detailing their achievements. They have highlighted the various initiatives undertaken in the past, which have helped to bring safe and effective medicines to patients all over Europe. They have also furnished some details of their future projects. Among other accomplishments, the book includes a section on meeting the needs of rare disease patients as well as their recent achievement on bringing transparency to the clinical trial process.
Read the book


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 LeCam, Stephen Lynn, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann Valentina Bottarelli, Victoria Hedley, Yann LeCam, 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), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Dian Donnai (UK)
Orphanet - All rights reserved
Disclaimer : This presentation is part of the project / joint action N° 677024 / RD-ACTION' which has received funding from the European Union's Health Programme (2014-2020).

Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)