15 October 2013 print
Spotlight on...
Nat Pol News
ELS News
New Syndromes
New Genes
Research in Action
Patient Man & Therapy
Orphan Drugs
Courses & Education
What's on?
Subscribe / Unsubscribe
Search the Orphanews Europe archives:


ECRIN funds clinical trials to augment rare disease research

The European Clinical Research Infrastructures Network (ECRIN) is a non-profit organisation that supports multinational academic clinical research projects in Europe which is "hampered by the fragmentation of health and legislative systems in Europe". ECRIN provides information, consulting and services to investigators and sponsors in the preparation and in the conduct of multinational clinical studies, for any category of clinical research and in any disease area. This is particularly relevant for investigator-initiated or academic clinical trials, and for clinical research on rare diseases where international cooperation is a key success factor. ECRIN is based on the connection of coordinating centres for national networks of clinical research centres and clinical trials units, able to provide support and services to multinational clinical research.

Recently, ECRIN organised a call for applications to allow multinational extension of trials already funded in the coordinating country in three specific areas: Nutrition, Medical Devices and Rare Diseases. Trials were proposed by public or private non-profit institutions, and to address important clinical questions. The evaluation process was based on the possible impact on the health of European citizens, the scientific merit and excellence, and the feasibility of each proposed trial. Project selection was carried-out by the ECRIN IA Scientific Board (which also includes patients representatives), supported by external peer-reviewers, each assessing one clinical trial in his/her specific field of competence, and three methodologists, each assessing all the trials pertaining to one of the clinical areas considered by the call. The ECRIN European Correspondents provided the Board with an estimation of the logistical feasibility and cost of the trials. Eight clinical trials, involving a total of 21 European countries, were recommended for free access to ECRIN services after selection by the ECRIN-IA Scientific Board convened in Milan on June 20-21, 2013 : Four of the trials chosen are in the field of rare disease research. Below are the details of the trials to be funded involved in rare disease research:
Prospective multicenter study (phase III) to evaluate clinical efficacy and safety of anti-Pseudomonas antibodies (IgY) in prevention of P. aeruginosa infection in CF patients PsAerIgY – Trial Germany 4.0 Clobazam or steroids for ESES syndrome: a European, multicenter, randomized, controlled clinical trial

Clobazam or steroids for ESES syndrome: a European, multicenter, randomized, controlled clinical trial

Very early FDG-PET/CT-response adapted therapy for advanced stage Hodgkin Lymphoma, a randomized phase III noninferiority study

Endoscopic versus Laparoscopic Myotomy for Treatment of Idiopathic Achalasia: A Randomized, Controlled Trial

Spotlight on...
Coordination of Rare Diseases at Sanford (CoRDS) – Q&A with Liz Donohue
Liz Donohue is the director of the Coordination of Rare Diseases at Sanford (CoRDS), in the Sanford Children’s Health Research Center at Sanford Research in Sioux Falls, USA. Sanford Research is a non-profit research organization formed between Sanford Health and the University of South Dakota. CoRDS is a central patient registry for all rare diseases which is committed to finding cures and advancing therapies for rare diseases. It is funded internally through the Sanford Children’s Health Research Center at Sanford Research/USD and through a Sanford Health Foundation grant.

Liz Donahue is a member of the executive committee of the International Rare Disease Research Consortium (IRDiRC)

IRDiRC: What is the main problem that you will tackle?
Liz Donohue: Many new developments in the diagnosis and treatment of human disease rely on research that involves the collection and analysis of data, but research into rare diseases is challenging due to a lack of information, the low numbers and geographic spread of individuals affected by rare disease, and data collected and stored in separate databases. There is a compelling need for the creation of a centralized resource of contact and clinical data on patients diagnosed with a rare disease.

IRDiRC: What is the concrete solution that you have selected? What are the steps? At what stage are you today?
Liz Donohue: To help address these challenges and advance research into rare diseases, we have established a central rare disease patient registry for all rare diseases, working with patient groups that want to start a general rare disease patient registry or a disease-specific patient registry. We will be accepting applications from researchers to access data in the coming months.

IRDiRC: What can the patients, the clinicians or other stakeholders expect at the end of the project?
Liz Donohue: At the end of the project, patients would be able to contribute to basic contact and clinical data after providing informed consent. They may indicate if they would like to be contacted about research opportunities in the future and how they would like their information to be shared.
Researchers with Institutional Review Board (IRB) approval (or corresponding approval in their country) may apply for access to de-identified data into CoRDS database. Researchers would also be allowed to request CoRDS staff members to contact patients on their behalf.
Providers with IRB approval may apply for access to de-identified data into CoRDS database. Providers would also be allowed to request CoRDS staff members to contact patients on their behalf.

IRDiRC: How is your project contributing to reaching the goals of IRDiRC by 2020?
Liz Donohue: CoRDS is contributing to reaching the goals of IRDiRC by 2020 by:
Creating a central registry for rare diseases which will help establishing and providing access to harmonized data and samples Gathering natural history of diseases by updating and overseeing the registry data which will help performing the molecular and clinical characterization of rare diseases
Facilitating the translational, preclinical and clinical research in the future, by building a rare disease biobank which will become operational in late 2013.
Providing feedback on issues pertaining to informed consent which will help streamlining ethical and regulatory procedures.

IRDiRC: Where does this project position itself in this particular field at the international level?
Liz Donohue: Currently, individuals from all around the world are allowed to enrol to CoRDS registry, as long as they speak and understand English. The software used does support other languages, and CoRDS hopes to translate documents into other languages in the future. Researchers from all around the world can access the Registry as long as they have IRB approval (or corresponding approval in their country).

Liz Donohue, on behalf of CoRDS, USA
Visit CoRDS website for more information
Visit the IRDiRC website


National & International Policy Developments
Draft NIH Genomic Data Sharing Policy Request for Public Comments
The National Institutes of Health (NIH) is seeking public comments on the draft Genomic Data Sharing (GDS) Policy that promotes sharing, for research purposes, of large-scale human and nonhuman genomic data generated from NIH-supported and NIH-conducted research. The draft GDS Policy describes the responsibilities of investigators and institutions for the submission of nonhuman and human genomic data to the NIH and the use of controlled-access data. The Policy also provides expectations regarding intellectual property. Deadline to submit the comments is before November 15
Read the draft policy

Other European news
Is it too early for mitochondrial replacement therapy to see the light of day?
In a commentary published in Science, authors question the current move to legislate a move that allows mitochondrial replacement therapy to be available in clinic in the near future (Read previous Orphanews on this subject). The authors believe that this move is premature and futher research should be mandated before this technology is clinic-bound. Mitochondrial diseases are passed from the mother, which can “manifest in a range of severe symptoms, for which there are currently no cures. The therapeutic strategy, which will be voted on by the UK parliament, aims to prevent the inheritance of the mothers mitochondrial, by swapping the faulty maternal mitochondrial DNA with that of a healthy donor.

The authors believe that this strategy has not been extensively tested and point to aspects that need further investigation. The authors would like the legislators to consider that enough primate studies have not been performed to be know if there are any deleterious effects of this strategy that would not be revealed until adulthood. The authors believe that the current approach of “long term follow-up” of patients to test the efficacy of this procedure, is experimental and places families at risk. The authors also recommend “comparing the genetic relatedness between recipients and donors for both successful and failed MR outcomes in the studies of macaques”.
Access the article

Eurogentest survey to assess requirements of professionals working in a genetic center
EuroGentest has been active since 2005 in harmonising genetic testing in Europe and helping genetic centres to provide good quality genetic services, for the benefit of the patient. On behalf of EuroGentest, a survery is being conducted to find out the needs and wishes of professionals working in a genetic centre in order to optimize their activities. Eurogentest asks you to participate in this online survey which is open to professionals working in a genetic lab/centre. Your opinion is very much needed so please take the time to fill in this 10-15 minute survey.
Take the survey
Access the Eurogentest website

Other International News
A good year for rare disease research as multiple projects are awarded by NIH
In a recent press release, the National Institutes of Health (NIH) have announced $6,865,689 to the National Disease Research Interchange (NDRI) to continue funding the recovery and distribution of human organs and tissues for medical research. This five-year award funds the Research Resource for Human Tissues and Organs (RRHTO) Cooperative Agreement which provides biomedical investigators with donated normal and diseased human tissues and organs, recovered using customised procurement, processing, preservation and distribution protocols from a diverse donor pool. A unique element of NDRI’s work supported through this agreement is the provision and distribution of human tissue for rare disease research. The Office of Rare Diseases Research within NCATS provides funds for outreach to rare disease patients and advocates, and to their medical and research communities, for the collection and distribution of rare disease biospecimens.

In related news, the Therapeutics for Rare and Neglected Diseases program at the NIH’s National Center for Advancing Translational Sciences is funding four new preclinical drug development projects targeting several rare diseases. Two of the projects focus on development of a treatment for retinitis pigmentosa, which is a severe form of hereditary blindness, and the third project involves investigation of a potential treatment for hypoparathyroidism. The fourth project targets a potential treatment for hypertrophic cardiomyopathy associated with LEOPARD syndrome, an extremely rare genetic disease that affects many areas of the body. These projects also represent the first time the program has used stem cells and marks its first collaboration with a large pharmaceutical company, Eli Lilly, to jointly develop treatment for a rare disease, according to the press release.
Visit the NIH website for more information on the projects
Visit the NCATS website

Australian Department of Health sets up Post-Market review of their Life Saving Drugs Program

In Australia, the Federal Government funds treatments and therapies via the PBS (Pharmaceutical Benefits Scheme) which most are familiar with. However, treatments for rare diseases don't meet criteria of listing on the Pharmaceutical Benefits Scheme (PBS), as they don’t meet cost effectiveness of PBS. Much of the treatments for rare diseases are funded by another scheme - the Life Saving Drugs Program (LSDP). This program was set up in 1995 on the back of an Act of Grace as a means of providing much needed treatments to those living with very rare conditions. The LSDP currently funds 10 treatments for 7 rare conditions for which patients must meet an entrance criteria to enable them access to these therapies. This program is carefully managed with advisors for each specific condition listed. All treatments listed on this program must be referred and recommended by the Pharmaceutical Benefits Advisory Committee (PBAC) in Australia for listing.

In August 2013 the PBAC announced that LSDP will be undergoing a Post Market Review to assess the state of affairs of drugs funded under LSDP. Rare Voices Australia has met with rare disease stakeholders to provide the department with Terms of Reference (ToR) for the review. The ToR will be published on the Australian Department of Health website, once they are finalised. The review is anticipated to take 12 months, which will also be published on the same website.
Consult the LSDP website
Go to Rare Voices Australia website

ISPOR (International Society for Pharmacoeconomics and Outcomes Research) is implementing a rare disease Special Interest Group (SIG)

Founded in 1995, ISPOR is a non-profit public organization for educational and scientific purposes, as defined by the US IRS, and a non-profit research organization under the European Commission 7th Framework Programme. It promotes worldwide the science of pharmacoeconomics and outcomes research and facilitates the translation of this research into useful information for healthcare decision makers to increase the efficiency, effectiveness, and fairness of health care to improve health.
As more Rare Disease diagnostics and treatments are developed, ISPOR decided to examine the rare disease area. ISPOR’s Rare Disease Special Interest Group will elucidate issues pertinent to health technology assessment (HTA) in the Rare Disease environment so that researchers, payers, patients and life sciences companies can effectively address key challenges and more effectively establish the value of new and existing diagnostics and therapeutics. There are four working groups representing the four goals of the RD SIG:
  • Rare Disease Terminology & Definitions Used in Outcomes Research Working Group
  • Challenges in Assessing and Appraising Rare Disease Treatments Working Group
  • HTA of Rare Disease Diagnostics and Treatments Working Group
  • Methodology - Measuring Use, Costs and Effectiveness of Rare Disease Care Working Group
  • Learn more about ISPOR

    Guidance Documents and Recommendations
    Use of preimplantation genetic diagnosis for serious adult onset conditions: a committee opinion

    Read the open access article

    Bioinformatics, Registries and Data Management
    Novel post-approval registry for Canakinumab
    The Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare hereditary autoinflammatory diseases for which Canakinumab, a monoclonal antibody directed against IL-1 beta, is the approved treatment. An article published in Orphanet Journal of Rare Diseases, describes the post-approval monitoring procedure which is required by the European Medicines Agency, “due to low and short exposures during the licensing process”. According to the authors several approaches are undertaken, including developing “novel registry strategies” to ensure proper post-marketing patient monitoring.

    The authors illustrate the web-based registry that was set up “to collect information on long-term safety and effectiveness of canakinumab for CAPS. This registry enrolled 241 patients, with equal gender distribution, from 13 countries during the period of November 2009 to December 31, 2012. According to the authors, although faced with immense challenges, the CAPS registry provides a good example of a good methodological alternative. They believe that a post-marketing registry can be more beneficial than a randomised controlled trial in terms of safety monitoring and can also help with “(overcoming) resistance to participation and facilitate comprehensive data collection”
    Consult open access article

    Screening and Testing
    Prenatal screening: Experience of a Prenatal Diagnosis Center in Italy
    The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if tests are available for many of these disorders. In an article published in the Journal of Maternal Fetal Neonatal Medicine the authors report the experience of their Prenatal Diagnosis Center and also discussed the value of screening for carrier status for beta-thalassemia (BT), cystic fibrosis (CF) and for other rare genetic disorders. The authors retrospectively analysed prenatal diagnosis requirement of all the couples referred to their Center from January 1993 to May 2013 by dividing them into three groups: couples at high risk for BT, for CF and for other rare genetic disorders. The analysis showed that majority of the couples screened for CF carrier after the birth of an affected child or through the cascade screening, while some discovered the carrier status only after birth. The authors noted that the proportion of patients referred for very high-risk indications increased over time with a higher demand for rare disease. Due to this increasing demand the authors recognise the need for adequate counseling.
    Consult the abstract

    Concerted efforts in Turkey to reduce incidence of hereditary rare diseases
    Due to alarmingly high rate of consanguineous marriage in Turkey, the incidence of autosomal recessive diseases and congenital anomalies is also very high, presenting a serious public health concern that should be battled. Efforts to decrease the prevalence of these hereditary diseases among the Turkish population have been elevated over the past three decades.

    A paper published in the Journal of Genetic Counselling has provided an overview of Turkey’s healthcare system and how its current approaches to combating the increase in incidence of hereditary diseases. The article describes the genetic screening programmes that are provided in Turkey, which include population-based premarital, prenatal, neonatal and adult genetic screening programs which are performed in various centers. The authors recognise that although there is a need for trained genetic counsellors, the country currently lacks professional education in this area. The cause of educating the public rests on the shoulders of physicians and medical geneticists. However, the authors remain optimistic for the future.
    Consult the PubMed abstract

    Clinical management of rare renal disease in the absence of scientific evidence to support clinical practice

    Although over 100 renal diseases conditions meet the epidemiological criteria to be defined as rare, the clinical management of these diseases is challenging due to lack of scientific evidence to support clinical practice. Furthermore, no specific and validated methods for designing, carrying out or analysing clinical trials in small populations exist with important consequences for evidence-based medicine. In an article published in Nephrology Dialysis Transplant. In this paper the authors discuss the inherent difficulty in finding evidence in rare renal diseases, providing some suggestions on how the quality of evidence and the guidance in these diseases can be improved.

    The authors recommend that although high-quality data adhering to good clinical practice standards are desirable, a more pragmatic attitude can be justified in certain situations. They advice keeping a careful balance between potential benefit and harm, not only for the individual patient but also for the society at large, to avoid either effective treatments being withheld, or administering unnecessary treatments. The authors advocate the use of ‘expert groups’ supported by a team of methodologists, where consensus between experts in the field of the disease is obtained during balanced face-to face discussions, might be a possible way to balance personal experience and available (as few as it might be) evidence. At the minimum the authors suggest providing transparency by describing how the literature was searched, how retrieved evidence was interpreted, and what considerations were taken into account when formulating the recommendation for clinical management of rare renal diseases.
    Consult the PubMed abstract


    Ethical, Legal & Social Issues
    What is the kind of assistance caregivers of patients with Juvenile Huntington’s Disease looking for?

    The poignant study appearing in European Journal of Human Genetics presents a detailed description of what it is like to parent a child with juvenile Huntington’s disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study. The study recruited parents from four European countries: Holland, Italy, Poland and Sweden,. A secondary aim of this study was to see the extent to which the findings from the UK study were repeated across Europe and the degree of commonality or divergence across the different countries. Fourteen parents who were the primary caregiver took part in a semi-structured interview. These were analysed using an established qualitative methodology - interpretative phenomenological analysis.

    Five analytic themes were derived from the analysis: the early signs of something wrong; parental understanding of juvenile Huntington’s disease; living with the disease; other people’s knowledge and understanding; and need for support. The authors then discussed in light of the considerable convergence between the experiences of families in the United Kingdom and elsewhere in Europe. As observed in the UK study, the authors conveyed the importance of doctors acknowledging parents’ unique insights into their child’s behaviour as parents are often the first to be aware of signs and symptoms in the child including changes in behaviour before a diagnosis is achieved, suggesting that delays in diagnosis of rare conditions. The significance of support groups was also highlighted, because being parents of a rare disease patient is a lonely journey, as these families and the patients are cut off or isolate themselves.
    Consult the PubMed abstract


    New Syndromes

    New syndrome featuring severe dermatitis, multiple allergies and metabolic wasting caused by homozygous mutations in DSG1
    In the present study, authors delineate the molecular basis for a novel syndrome featuring severe allergic dermatitis and metabolic wasting in three individuals, resulting from DSG1 dysfunction.
    Consult the Pubmed abstract

    Nat Genet. ; 45(10):1244-8 ; October 2013
    Novel syndrome characterized by hypopituitarism, post-natal microcephaly, visual and renal abnormalities due to an ARNT2 mutation
    In this study, the authors describe a previously unreported syndrome characterized by secondary (post-natal) microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract in a highly consanguineous family with six affected children. Homozygosity mapping and exome sequencing revealed a novel homozygous frameshift mutation in ARNT2.
    Consult the Pubmed abstract

    Brain ; 136(Pt 10):3096-105 ; October 2013
    Previously unreported condition of intellectual disability, unusual facial morphology and hand anomalies
    The authors report here on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology and hand anomalies in two of them. Despite the overlap with several known syndromes, this condition is previously unreported, and most likely displays an autosomal recessive pattern of inheritance.
    Consult the Pubmed abstract

    Am J Med Genet A. ; 161(10):2401-6 ; October 2013
    A new form of severe spondyloepimetaphyseal dysplasia described in two patients
    The authors describe two unrelated patients with a severe novel form of spondyloepimetaphyseal dysplasia (SEMD) with radiographic abnormalities similar to SEMD type Strudwick and SEMD matrilin type 3, but without mutations in COL2A1 and MATN3 genes.
    Consult the Pubmed abstract

    Am J Med Genet A. ; 161(10):2645-51 ; October 2013
    Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts in seven children
    The authors aim to report on children with cerebellar cysts showing absence of weakness and ruling out of mutations within eight dystroglycanopathy genes and GPR56. Seven children from five families were studied. Ataxia, intellectual disability, and language impairment were found in all patients, ocular motor apraxia in five, and severe myopia in three. The peculiar combination of the same clinical and neuroimaging findings in these patients highly suggests that this phenotype may represent a novel disease.
    Consult the Pubmed abstract

    Cerebellum ; [Epub ahead of print] ; September 2013

    New Genes

    Acute lymphoblastic leukemia: identification of PAX5 and TP53 as susceptibility genes
    Consult Pubmed abstracts
    To read more about "Precursor B-cell acute lymphoblastic leukemia"
    To read more about "Acute lymphoblastic leukemia"

    Nat Genet. ; 45(10):1226-31 ; October 2013
    Pediatr Blood Cancer. ; 60(6):E1-3 ; June 2013
    Intermediate form of autosomal-recessive Charcot-Marie-Tooth disease due to two homozygous mutations in PLEKHG5 in two consanguineous families
    Consult the Pubmed abstract
    To read more about "Autosomal recessive intermediate Charcot-Marie-Tooth disease"

    Hum Mol Genet. ; 22(20):4224-32 ; October 2013
    Chronic pancreatitis: variants in CPA1 are strongly associated with early-onset disease
    Consult the Pubmed abstract
    To read more about "Hereditary chronic pancreatitis"

    Nat Genet. ; 45(10):1216-20 ; October 2013
    Dyschromatosis universalis due to mutations in ABCB6 in a five-generation Chinese family and in two additional cases
    Consult the Pubmed abstract
    To read more about "Dyschromatosis universalis"

    J Invest Dermatol. ; 133(9):2221-8 ; September 2013
    Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS
    Consult the Pubmed abstract
    To read more about "Large congenital melanocytic nevus"

    J Invest Dermatol. ; 133(9):2229-36 ; September 2013
    West syndrome: SCN2A mutations identified in one case, and in seven cases with Ohtahara syndrome evolving to West syndrome
    Consult the Pubmed abstract
    To read more about "West syndrome"

    Neurology ; 10;81(11):992-998 ; September 2013
    Hereditary spastic paraplegia type 43 is due to a homozygous missense mutation in C19orf12
    Consult the Pubmed abstract
    To read more about "Autosomal recessive spastic paraplegia type 43"
    To read more about "Hereditary spastic paraplegia"

    Hum Mutat. ; 34(10):1357-60 ; October 2013
    Idiopathic bronchiectasis: identification of two missense variants in SLC26A9 in heterozygous patients that could trigger the pathogenic role of a single CFTR mutation
    Consult the abstract
    To read more about "Idiopathic bronchiectasis"

    Hum Mutat. ; 34(10):1404-14 ; October 2013
    A case of paroxysmal nocturnal hemoglobinuria caused by a heterozygous germline splice site mutation and a somatic deletion in PIGT
    Consult the Pubmed abstract
    To read more about "Paroxysmal nocturnal hemoglobinuria"

    Blood ; 122(7):1312-5 ; August 2013
    Mosaic variegated aneuploidy syndrome: identification of haploinsufficiency or heterozygous mutations in BUB1 and BUB3
    Consult the Pubmed abstract
    To read more about "Mosaic variegated aneuploidy syndrome"

    Gastroenterology ; 145(3):544-7 ; September 2013
    Primary sclerosing cholangitis: genome-wide association analysis identified risk loci at GPR35 and TCF4
    Consult the Pubmed abstract
    To read more about "Primary sclerosing cholangitis"

    Hepatology ; 58(3):1074-83 ; September 2013
    Spondyloepimetaphyseal dysplasia with multiple dislocations-like phenotype due to homozygous missense mutations in NIN and POLE2, with mutant NIN most likely causative
    Consult the Pubmed abstract
    To read more about "Spondyloepimetaphyseal dysplasia with multiple dislocations"

    Matrix Biol. ; [Epub ahead of print] ; May 2013
    Primary ovarian failure associated with a heterozygous stop codon in elF4ENIF1 in nine women in three consecutive generations
    Consult the Pubmed abstract
    To read more about "Primary ovarian failure"

    J Clin Endocrinol Metab. ; 98(9):E1534-9 ; September 2013
    Isolated cytochrome C oxidase deficiency: novel heterozygous mutations in SCO1 in one patient with fatal encephalopathy but without hepatopathy or hypertrophic cardiomyopathy
    Consult the Pubmed abstract
    To read more about "Isolated cytochrome C oxidase deficiency"

    Hum Mutat. ; 34(10):1366-70 ; October 2013
    Autosomal recessive congenital ichthyosis caused by a homozygous missense mutation in CERS3 which reveals the importance of ceramide acyl chain length
    Consult the PubMed abstract
    To read more about "Autosomal recessive congenital ichthyosis"
    To read more about "Lamellar ichthyosis"

    J Invest Dermatol. ; 133(9):2202-11 ; September 2013

    Research in Action

    Clinical Research
    Schnitzler syndrome: monthly 150 mg canakinumab injection was effective and well-tolerated in a 9 months study
    Consult the Pubmed abstract
    To read more about "Schnitzler syndrome"

    Ann Rheum Dis. ; 72(10):1634-8 ; October 2013
    Familial amyloid polyneuropathy: ALN-TTR01 and ALN-TTR02 suppressed the production of both mutant and non-mutant forms of transthyretin
    Consult the Pubmed abstract
    To read more about "Familial amyloid polyneuropathy"

    N Engl J Med. ; 369(9):819-29 ; August 2013
    Uveal melanoma: durable responses to ipilimumab and manageable toxicity in 39 patients
    Consult the Pubmed abstract
    To read more about "Uveal melanoma"

    Cancer ; Volume 119, Issue 20, pages 3687–3695 ; October 2013
    Neurofibromatosis type 1: chemotherapy for the treatment of malignant peripheral nerve sheath tumors did not seem to reduce mortality in a retrospective review
    Consult the Pubmed abstract
    To read more about "Neurofibromatosis type 1"
    To read more about "Malignant peripheral nerve sheath tumor"

    Orphanet J Rare Dis. ; 8(1):127 ; August 2013
    Cholesteryl ester storage disease: sebelipase alfa is well tolerated, rapidly decreases serum transaminases, and improves serum lipid profile on the long-term
    Consult the Pubmed abstract
    Consult this study on Orphanet
    Consult this study on Orphanet

    To read more about "Cholesteryl ester storage disease"

    Biliary atresia: endoscopic therapy appears to be well tolerated and greatly reduces the risk of variceal bleeding in children, although continued endoscopic surveillance is needed
    Consult the Pubmed abstract
    To read more about "Biliary atresia"

    Gastroenterology ; 145(4):801-7 ; October 2013
    Therapies in development for mucopolysaccharidosis type 3
    Consult the abstract
    To read more about "Mucopolysaccharidosis type 3"

    Expert Opinion on Orphan Drugs ; Vol. 1, No. 9, Pages 717-730 ; September 2013
    Behçet’s disease: potential for using gevokizumab for the treatment of uveitis
    Consult the abstract
    To read more about "Behçet disease"

    Expert Opinion on Orphan Drugs ; Vol. 1, No. 9 , Pages 755-763 ; September 2013
    Gene therapy for Wiskott-Aldrich syndrome
    Consult the abstract
    To read more about "Wiskott-Aldrich syndrome"

    Expert Opinion on Orphan Drugs ; Vol. 1, No. 9 , Pages 705-715 ; September 2013
    Cystic fibrosis gene therapy is moving forward
    Consult the Pubmed abstract
    Hum Mol Genet. ; 22(R1):R52-8 ; October 2013
    Acute myeloid leukemia: vascular-targeting with an F16 antibody fused to IL-2, associated with cytarabine, significantly reduced AML lesions in a patient with disseminated disease
    Consult the Pubmed abstract
    To read more about "Acute myeloid leukemia"

    Sci Transl Med. ; 5(201):201ra118 ; September 2013
    Mild and moderately severe hemophilia A: F8 genotyping facilitates the identification of patients at high-risk of developing inhibitor
    Consult the Pubmed abstract
    To read more about "Mild hemophilia A"
    To read more about "Moderately severe hemophilia A"

    Blood ; 122(11):1954-62 ; September 2013
    Rare mitochondrial DNA mutations probably account for more than 7.4% of patients with respiratory chain deficiency
    Consult the Pubmed abstract
    J Med Genet. ; 50(10):704-14 ; October 2013
    Limbic encephalitis with NMDA receptor antibodies is associated with functional and structural brain changes despite normal findings in routine clinical MRI
    Consult the Pubmed abstract
    To read more about "Limbic encephalitis with NMDA receptor antibodies"

    Ann Neurol. ; Volume 74, Issue 2, pages 284–296 ; August 2013
    Gene Therapy
    FKRP-related muscular dystrophies: significant improvement in pathology, serum creatine kinase levels and muscle function with AAV9-mediated FKRP gene therapy in model mice
    Consult the Pubmed abstract
    To read more about "Autosomal recessive limb-girdle muscular dystrophy type 2I"
    To read more about "Congenital muscular dystrophy type 1C"
    To read more about "Muscle-eye-brain disease"
    To read more about "Walker-Warburg syndrome"

    Mol Ther. ; 21(10):1832-1840 ; October 2013
    Limb girdle muscular dystrophy type 2A: a new AAV vector with CAPN3 expression restricted to skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model
    Consult the Pubmed abstract
    To read more about "Autosomal recessive limb girdle muscular dystrophy type 2A"

    Circulation ; 128(10):1094-104 ; September 2013
    Mucopolysaccharidosis type IIIB: targeting both the systemic and central nervous system early in life appears to be the most efficacious approach in model mice
    Consult the Pubmed abstract
    To read more about "Mucopolysaccharidosis type 3"
    To read more about "Sanfilippo syndrome type B"

    Gene Ther. ; 20(9):913-21 ; September 2013
    Mucopolysaccharidosis type IIIA: evidence of neurological disease correction using autologous myeloid driven lentiviral-hematopoietic stem cells gene therapy in model mice
    Consult the Pubmed abstract
    To read more about "Mucopolysaccharidosis type 3"
    To read more about "Sanfilippo syndrome type A"

    Mol Ther. ; 21(10):1938-1949 ; October 2013
    Acute neonatal citrullinemia type I: adeno-associated virus-mediated rescue of neonatal lethality in argininosuccinate synthetase-deficient mice
    Consult the Pubmed abstract
    To read more about "Acute neonatal citrullinemia type I"

    Mol Ther. ; 21(10):1823-1831 ; October 2013
    Autosomal-recessive infantile malignant osteopetrosis: lentiviral gene transfer of TCIRG1 into peripheral blood CD34+ cells restores osteoclast function
    Consult the Pubmed abstract
    To read more about "Autosomal recessive malignant osteopetrosis"

    Bone ; 57(1):1-9 ; November 2013
    Development of gene therapy for blood disorders: an update
    Consult the Pubmed abstract
    Blood ; 122(9):1556-64 ; August 2013
    Therapeutic Approaches

    Huntington disease: glutathione peroxidase activity is neuroprotective in yeast, mammalian cells and Drosophila models
    Consult the Pubmed abstract
    To read more about "Huntington disease"

    Nat Genet. ; 45(10):1249-54 ; October 2013
    Young adult-onset Parkinsonism: both ursocholanic acid and ursodeoxycholic acid rescue mitochondrial function in LRRK2G2019s mutant fibroblasts
    Consult the Pubmed abstract
    To read more about "Young adult-onset Parkinsonism"

    Brain ; 136(Pt 10):3038-50 ; October 2013
    Methylmalonic acidemia type cblB: pharmacological chaperones as a potential therapeutic option
    Consult the Pubmed abstract
    11337 3260 Hum Mol Genet. ; 22(18):3680-9 ; September 2013
    Heritable pulmonary arterial hypertension with BMPR2 mutation or deficiency: chloroquine as a potential therapeutic approach through the restoration of cell surface BMPR-2
    Consult the Pubmed abstract
    To read more about "Idiopathic and/or familial pulmonary arterial hypertension"

    Hum Mol Genet. ; 22(18):3667-79 ; September 2013
    Spinal muscular atrophy: the Dcps inhibitor RG3039 improves motor function and survival in model mice
    Consult the abstracts
    To read more about "Proximal spinal muscular atrophy"

    Hum Mol Genet. ; 22(20):4074-83 ; October 2013
    Hum Mol Genet. ; 22(20):4084-101 ; October 2013
    Amyotrophic lateral sclerosis: treatment of model mice with anti-miR-155 significantly extended survival by 10 days and disease duration by 15 days
    Consult the Pubmed abstract
    To read more about "Amyotrophic lateral sclerosis"

    Hum Mol Genet. ; 22(20):4127-35 ; October 2013
    Diagnostic Approaches

    Pseudotumor cerebri syndrome: revised diagnostic criteria in adults and children
    Consult the Pubmed abstract
    To read more about "Idiopathic intracranial hypertension"

    Neurology ; 81(13):1159-65 ; September 2013
    Need for revision of the World Health Organization criteria for diagnosis of polycythemia vera
    Consult the Pubmed abstract
    To read more about "Polycythemia vera"

    Blood ; 122(11):1881-6 ; September 2013
    Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
    Consult the Pubmed abstract
    Brain ; 136(Pt 10):3106-18 ; October 2013
    Autoimmune necrotizing myopathy: a review
    Consult the Pubmed abstract
    To read more about "Autoimmune necrotizing myopathy"

    Curr Opin Neurol. ; 26(5):554-60 ; October 2013

    Patient Management and Therapy
    Cold agglutinin disease: a review
    Consult the Pubmed abstract
    To read more about "Cold agglutinin disease"

    Blood ; 122(7):1114-21 ; August 2013
    Primary sclerosing cholangitis: review of pathogenesis and advances in diagnosis and management
    Consult the Pubmed abstract
    To read more about "Primary sclerosing cholangitis"

    Gastroenterology ; 145(3):521-36 ; September 2013
    Brachydactyly type E: review on the isolated disease or as a feature of a syndrome
    Consult the Pubmed abstract
    To read more about "Brachydactyly type E"

    Orphanet J Rare Dis. ; 8(1):141 ; September 2013
    Hereditary ataxias: overview
    Consult the Pubmed abstract
    To read more about "Rendu-Osler-Weber disease"
    To read more about "Autosomal recessive cerebellar ataxia"
    To read more about "Rare hereditary ataxia"

    Genet Med. ; 15(9):673-83 ; September 2013
    Takayasu arteritis: main clinical features and recent insights into diagnosis and treatments
    Consult the abstract
    To read more about "Takayasu arteritis"

    Expert Opinion on Orphan Drugs ; Vol. 1, No. 9 , Pages 685-693 ; September 2013
    Management of CADASIL syndrome
    Consult the abstract
    To read more about "CADASIL"

    Expert Opinion on Orphan Drugs ; Vol. 1, No. 9 , Pages 695-703 ; September 2013
    Treatment options for graft versus host disease
    Consult the abstract
    To read more about "Graft versus host disease"

    Expert Opinion on Orphan Drugs ; Vol. 1, No. 9 , Pages 731-743 ; September 2013
    Intermediate-dose versus high-dose prophylaxis for severe hemophilia: comparing outcomes and costs since 1970s
    Consult the Pubmed abstract
    To read more about "Severe hemophilia A"
    To read more about "Severe hemophilia B"

    Blood ; 122(7):1129-36 ; August 2013
    Neurodevelopmental disorders and genetic testing: current approaches and future advances
    Consult the Pubmed abstract
    Ann Neurol. ; Volume 74, Issue 2, pages 164–170 ; August 2013
    Alpha-1-antitrypsin deficiency: diagnostic testing and disease awareness in Germany and Italy
    Consult the Pubmed abstract
    To read more about "Alpha-1-antitrypsin deficiency"

    Respir Med. ; 107(9):1400-8 ; September 2013
    Peripheral neuropathy in mitochondrial disorders
    Consult the Pubmed abstract
    Lancet Neurol. ; 12(10):1011-24 ; October 2013
    Three new Clinical Utility Gene Cards and four Clinical Utility Gene Cards updates published in the European Journal of Human Genetics
    EuroGentest, the EU-funded Network of Excellence for genetic testing, has developed disease-specific points to consider regarding clinical indications for genetic testing - the Clinical Utility Gene Cards (CUGCs). These documents provide clinicians and clinical geneticists with guidance on genetic testing for specific conditions in real settings of clinical genetic services. Published in the European Journal of Human Genetics and also available on the Orphanet website, the CUGCs focus on Mendelian diseases.
    The European Journal of Human Genetics has published three new Clinical Utility Gene Cards for:
    Long-QT syndrome (types 1-13)
    Poikiloderma with neutropenia
    Dilated cardiomyopathy

    The European Journal of Human Genetics has published four Clinical Utility Gene Cards updates
    Joubert syndrome
    Diamond - Blackfan anemia
    Lesch-Nyhan syndrome
    Gorlin syndrome


    Orphan Drugs
    Drisapersen - exon skipping drug for DMD - fails to reach its primary endpoint in a Phase III trial
    Patients with Duchenne muscular dystrophy (DMD) were given the devastating news that the promising gene therapy drug drisapersen, failed to show significant superiority compared to the placebo. This exon skipping therapy was being developed by a collaboration of GSK and Prosensa and had shown considerable promise in earlier, smaller trials. The effectiveness of drisapersen was assessed using the six-minute walk test. The Phase III clinical trial included 186 boys who could walk an average of 340 meters in six minutes. After 48 weeks of injections with this novel gene therapy drug, the distance covered walked, on an average, 42 meters less, while those receiving placebo walked 53 meters less, on average. This difference did not yield statistical significant, leading to a failure to reach the drugs primary endpoint the Phase III trial. Whether drisapersen may be beneficial to a subpopulation of DMD patients is currently being looked at.
    Read more about drisapersen

    Political and Scientific News
    Delivery of lentiviral vectors using hematopoietic stem cells: a new era of treatment
    Cell Stem Cell has published a review on the recently described advance in field of efficient gene transfer with lentivirus vectors. Two studies (Consult the PubMed abstract) showed both efficacy and early safety in treating two severe genetic diseases using third generation lentivirus vectors. According to the authors the days of unpredictability and inefficient gene transfer may be behind us as these studies have shown successful implementation of recombinant retroviral vectors in hematopoietic stem cells in Wiskott-Aldrich syndrome and Metachromatic Leukodystrophy. This technology has been described as “optimised medicine” as it allows delivery of high concentrations of the functional protein into a “diseased microenvironment”, resulting in a dramatic improvement of symptoms in patients. The authors of the review especially reiterate the importance of the superiority of using autologous stem cells in these experiments compared to allogenic stem cells. They believe that not only do these studies provide a step forward in the pursuit of treatments for rare diseases, but will also lead to several technological advances in regenerative medicine particularly somatic cell reprogramming.
    Consult the PubMed abstract

    The treatment of neuronal ceroid lipofuscinosis - a focus on clinical trial development
    The neuronal ceroid lipofuscinoses constitute one of many groups of rare childhood diseases for which disease-modifying treatments are nonexistent. An article published in Journal of Child Neurology, describe disease-specific barriers to therapeutic success, which include incomplete understanding of disease pathophysiology and limitations of treatments that cannot adequately cross the blood-brain barrier to access the central nervous system. The authors state that the therapeutic development in the neuronal ceroid lipofuscinoses shares many challenges with other rare diseases, such as incomplete understanding of natural history to inform trial design, need for alternatives to the randomized controlled clinical trial, requirement for more sensitive outcome measures to quantify disease, limited access to resources required to mount a clinical trial, and difficulties of recruiting a small sample to participation. The authors state that solutions to these barriers will require multicenter collaboration, partnership with patient organisations, training a new generation of researchers interested in rare diseases, and leveraging existing resources.

    Although experimental therapeutics for rare disorders faces many challenges, there have been several recent accomplishments in the neuronal ceroid lipofuscinoses, including initial development of disease-specific rating scales, funding to further develop outcome measures for juvenile neuronal ceroid lipofuscinosis, and several ongoing clinical trials. The article describes continuing to improve our understanding of animal model phenotypes, disease pathophysiology, and natural history, to improve the existing quantitative measures and to hone a patient-centered approach as some of the future priorities. Other significant measures included in the paper are continued efforts to build clinical trial design expertise and infrastructure and efforts toward research prioritisation will support the future directions of therapeutic development in the neuronal ceroid lipofuscinoses.
    Consult the PubMed abstract



    SMA Europe announces its 6th international Call for SMA Research Projects
    This new Call for SMA Projects will be open to any research project aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease. The overall goal of SMA Europe is to help the dedicated international scientific and medical community in its search for therapies for SMA. Time being critical for people with SMA, preferences will be given to projects that have the greatest potential to overcome barriers to translation of advances in basic science and to accelerate the identification of effective treatments. For more information please visit the SMA Europe web site
    The French Foundation for rare diseases and the World Academy of Sciences announce their first joint call for rare diseases research: APPLY NOW!
    The French Foundation for rare diseases (Fondation maladies rares) and The World Academy of Sciences (TWAS) are opening a joint programme to support collaborative initiatives on rare diseases research.
    Under the first phase of this programme, researchers from the Mediterranean area (North Africa and the wider Middle Eastern region) are encouraged to initiate and/or strengthen cross-national research collaborations in the field of rare diseases.
    This call is open to collaborative initiatives (conference, workshop, training course) concerning any rare diseases, except cancers. Co-organization of collaborative events with French research teams is encouraged.

    Eligible countries:
    Afghanistan, Algeria, Bahrain, Egypt, Iran, Iraq, Jordan, Kuwait, Lebanon, Libya, Morocco, Oman, Palestine, Pakistan, Qatar, Saudi Arabia, Syria, Tunisia, Turkey, United Arab Emirates, Yemen

    Proposals should be submitted by email to: mahdavi@twas.org
    Deadline: 12 November 2013.
    Full details of the call are available online:
    French Foundation for rare diseases
    Contact points:
    TWAS: Maria Teresa Mahdavi mahdavi@twas.org
    French Foundation for rare diseases: Estelle Chanudet-van den Brink estelle.chanudet@fondation-maladiesrares.com

    Clinical studies of safety and effectiveness of orphan products research project grant (FDA, USA)
    The Food and Drug Administration (FDA) is announcing the availability of grant funds for the support of FDA’s Office of Orphan Products Development (OPD) grant program. The goal of FDA’s OPD grant program is to support the clinical development of products for use in rare diseases or conditions where no current therapy exists or where the proposed product will be superior to the existing therapy. FDA provides grants for clinical studies on safety and/or effectiveness that will either result in, or substantially contribute to, market approval of these products. Applicants must include in the application’s Background and Significance section documentation to support the assertion that the product to be studied meets the statutory criteria to qualify for the grant and an explanation of how the proposed study will either help support product approval or provide essential data needed for product development.
    For further information
    DEADLINE: February 5, 2014 (application) & October 15, 2014 (resubmission)

    Call for research proposal in Lowe Syndrome
    Lowe Syndrome Trust invites applications for research funding for Lowe Syndrome Trust. The genetic basis for Lowe Syndrome is a defective gene OCRL1 that results in the deficiency of an enzyme Phosphatidylinositol 4,5-bisphosphate-5-phosphatase (OCRL1). Lowe’s oculocerebrorenal syndrome is a disorder affecting the brain, eyes, kidneys and bones. Research funds are available of up to £100,000 in the first instance, for funding a research studentship or assistant in understanding how the enzyme deficiency leads to observed phenotype.
    Previous Lowe grant recipients are also invited to apply for a continuation grant.
    For further information and Application Form please contact
    Lorraine Thomas, Lowe Syndrome Trust
    Telephone 0207 794 8858
    or download an application form via website www.lowetrust.com
    email: lowetrust@gmail.com
    Closing date for applications 29 November 2013


    Courses & Educational Initiatives
    Orphan Drug & Rare Disease Seminar: Accelerating access to therapeutic innovation
    Date: 17-18 October 2013
    Venue: Marseille, France

    This event, jointly organised by Eudipharm, F-Crin and OrphanDev, will aim to address issues that to help fill the current discrepancies in translational research for rare diseases and creating awareness of clinical research sectors. For further details

    2nd International Workshop Rare disease and Orphan Drug Registries
    Date: 21-22 October 2013
    Venue: Rome, Italy

    Further Information about this course can be found on the epirare website For further details

    1st Asia Pacific Inborn Errors of Metabolism course
    Date: 09-11 January 2014
    Venue: Tokyo, Japan

    The 1st Asia Pacific Inborn Errors of Metabolism course is aimed at clinicians with a basic knowledge of inborn errors of metabolism who are training or working in this field. Both adult and childhood disease will be covered so it is suitable for practitioners in both areas. This course is intended to be interactive; it brings together a vast array of know-how, experts and resources to improve participants understanding of IEM in order to promote best practice in hospitals and healthcare systems For more information and to register (before November 20th), please visit www.orphan-europe-academy.com

    European Cytogeneticists Association Courses
    The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. Information for the 2014 course is now available. For Further details

    What's on Where?

    2013 PVNH Support & Awareness Conference
    Date: 17-19 October 2013
    Venue: Boston, USA

    Periventricular Nodular Heterotopia (PVNH) Conference will bring together PVNH patients, both young and older, PVNH specialists in genetics, neurology, cardiology among other disciplines and other PVNH stakeholders.
    For further details

    3rd European Rett Syndrome Conference Maastricht, “Research Update & Preventive Management”
    Date: 17-19 October 2013
    Venue: Maastricht, The Netherlands

    This conference aims to gather renowned researchers and clinicians working in the area of Rett Syndrome, to encourage interdisciplinary international cooperation. The conference also aims to provide stakeholders with the latest information on treatment of symptoms as well as preventative manangement.
    For further details

    Thalassemia International Federation World Congress
    Date: 19-23 October 2013
    Venue: Abu Dhabi, United Arab Emirates

    Topics for this conference includes “all aspects of prevention, management and care of thalassemia and sickle cell disease and a one-day patient programme”.
    For further details

    World Cord Blood Congress IV and Innovative Therapies for Sickle Cell Disease
    Date: 24-27 October 2013
    Venue: Monaco, Principauté de Monaco

    This international conference will cover a wide range of topics including cord blood transplant in adults and children, the role of HLA in cord blood transplant, stem cells, cord blood banking and regulatory issues. The scientific programme comprises of an international panel of distinguished scientitists and clinicians with a special session on sickle cell disease. This conference is open to all professionals working in fields related to cord blood biology and clinical applications from both public and private sectors, including physicians, research scientists, technicians, data analysts, nurses as well as healthcare policy makers.
    For further details

    EUROPLAN National Conferences Hungary
    Date: 25-26 October 2013
    Venue: Budapest, Hungary

    Organised by HUFERDIS; Hungarian Federation of People with Rare and Congenital Diseases
    For further details go to www.rirosz.hu

    The 8th ICORD Meeting
    Date: 1-2 November 2013
    Venue: St Petersburg, Russia

    The annual ICORD conference gathers representatives of government, academia, patients organisations. An opportunity for collaboration for patients, researchers, seekers of new projects and products and advocates for those affected by rare diseases.
    For further details

    First International Primary Immunodeficiencies Congress (IPIC)
    Date: 7-8 November 2013
    Venue: Estoril, Portugal
    The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the First International Primary Immunodeficiencies Congress (IPIC), a congress for all stakeholders with an interest in primary immunodeficiencies (PIDs). IPIC will provide a two-day programme focusing on clinical developments including PIDs pathogenesis, treatment, management of complications and more. Access to diagnosis and care, SCID newborn screening and other key world developments will also be addressed.
    For further details

    EUROPLAN National Conferences Lithuania
    Date: 14 November 2013
    Venue: Vilnius, Lithuania

    Organised by Ministry of Health

    EUROPLAN National Conferences The Netherlands
    Date: 14-15 November 2013
    Venue: The Netherlands

    Organised by VSOP; the Dutch Genetic Alliance
    For further details go to http://www.vsop.nl

    5th European Symposium on Rare Anaemias
    Date: 15-16 November 2013
    Venue: Ferrara, Italy

    The 5th European Symposium on Rare Anaemias is an activity within ENERCA project to disseminate and up-to-date knowledge on rare anaemias and, at the same time, increases their awareness. An integrated in the framework of the 5th European Symposium on Rare Anaemias, the three organizers (ENERCA, UNITED and TIF) have collaborated in setting up the 1st Italian Thalassaemia meeting for patients and health professionals in Ferrara.
    Deadline for abstract submission extended until 20th october 2013
    For further details

    EUROPLAN National Conferences Italy
    Date: 15-16 November 2013
    Venue: Rome, Italy

    Organised by Federazione italiana malattie rare (UNIAMO)

    EUROPLAN National Conferences Luxembourg
    Date: 19-20 November 2013
    Venue: Luxembourg

    Organised by Luxembourg Alliance for Rare Diseases and Neuro Muscular Diseases (ALAN)
    For further details go to www.alan.lu/alan

    EUROPLAN National Conferences Serbia
    Date: 5-6 December 2013
    Venue: Belgrade, Serbia

    Organised by NORBS; Serbian National Organization for Rare Diseases
    For further details go to www.norbs.rs>

    EUROPLAN National Conferences France
    Date: 13 January 2014
    Venue: Paris, France

    Organised by Alliance Maladies Rares
    For further details go to www.alliance-maladies-rares.org

    EUROPLAN National Conferences Spain
    Date: 24 January 2014
    Venue: Burgos, Spain

    Organised by FEDER; the Spanish Alliance for Rare Diseases
    For further details go to www.enfermedades-raras.org

    EUROPLAN National Conferences Ireland
    Date: February 2014
    Venue: Dublin, Ireland

    Organised by GRDO, Genetic and Rare Disorders Organisation
    For further details go to www.grdo.ie

    EUROPLAN National Conferences Belgium
    Date: 28 February 2014
    Venue: Brussels, Belgium

    Organised by Belgian National Alliance for Rare Diseases
    For further details go to radiorg.be

    14th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease)
    Date: 22-25 October 2014
    Venue: Córdoba, Argentina

    Batten disease is a common name for a group of rare, neurodegenerative genetic disorder affecting approximately 1 in 30,000 individuals. There is presently no known cure for Batten disease

    19th Congress of the European Association of Hospital Pharmacists
    Date: 26-28 March 2014
    Venue: Barcelona, Spain

    For further details

    The 9th International Congress on Autoimmunity
    Date: 26-30 March 2014
    Venue: Nice, France

    This is a prominent conference with experts in immunology, rheumatology and related fields participating. The congress will address the genetic, etiology, diagnostic, clinical aspects and novel therapies of 80 autoimmune diseases.
    For further details

    2014 Lymphangioleiomyomatosis International Research Conference
    Date: 28-30 March 2014
    Venue: Chicago, USA

    The LAM Foundation will be holding its 17 Annual International Lymphangioleiomyomatosis Research Conference and Patient & Family Educational Symposium on March 28 - 30 in Chicago, IL, USA. Save the date for this informative conference
    For further details

    7th European Conference on Rare Diseases & Orphan Products (ECRD 2014)
    Date: 8-10 May 2014
    Venue: Berlin, Germany

    The European Conference on Rare Diseases & Orphan Products (ECRD) promises to be an enlightening forum for rare disease stakeholders across various disciplines across in European countries. It aims to cover research, development of new treatments, healthcare, social care, information, public health and support. For further details

    Commercial events

    World Orphan Drug Congress 2013
    Date: 14 November 2013
    Venue: Geneva, Switzerland

    This commercial conference and exhibition bringing together buyers, sellers and key influencers from across the orphan and rare disease industry. Having welcomed over 1000 orphan and rare disease stakeholders in only its 3 year history, the event in Europe’s logical choice for Biotech and Pharma orphan drug players who want to meet Rare Disease Networks, Patient Groups, COMP Members, HTA Experts, Regulators and Payers.
    For Further Information

    Explaining the Price of Orphan Drugs
    Date: 14-15 November 2013
    Venue: Geneva, Switzerland

    This commercial event will bring together orphan drug developers, European payers and HTA experts to shape industry understanding on orphan drug pricing and create stakeholder alignment when discussing the value of an orphan drug. br>For Further Information


    Orphanews International, the newsletter of the European Union Committee of Experts on Rare Diseases
    Orphanews International is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Ségolène Aymé
    Editor: Divya Unni
    Editors for Scientific Content: Catherine Pouzat, Sophie Höhn
    Contact Us
    Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Virginie Hivert, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Jaroslaw Waligora

    EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Rumen Stefanov (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), To be nominated (Poland), Alexandre Diniz (Portugal), Emilia Severin (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), To be nominated (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
    EUCERD ECDC Representative: Andrew Amato
    EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier, Bianca Pizzera
    EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
    EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
    EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Gerard Wagemaker
    EUCERD European Commission Participants: Catherine Berens, Iiro Eerola, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Jaroslaw Waligora, Antoni Montserrat Moliner, Michael Huebel, Bruno Sepodes (EMA-COMP)

    Orphanet Partner Country Representatives: Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), Zsuzsanna Lengyel (Hungary), Andrew Green (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), Ugur Ozbek (Turkey), Dian Donnai (UK)
    For more information on the European Union Committee of Experts on Rare Diseases
    Orphanet - All rights reserved
    Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)