15 December 2010 print
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New European Union Committee of Experts on Rare Diseases braves the “storm of the (new) century” to meet in Luxembourg
A massive snowstorm arrived in Western Europe just as the newly formed European Union Committee of Experts on Rare Diseases (EUCERD) was set to convene for the first time on 9-10 December in Luxembourg. Rare disease experts are a hardy bunch, however, and long accustomed to tackling hurdles and obstacles of all kinds. Thus the majority of members and many of the alternative members were able to make their way to the day and a half event. Seasoned stakeholders in the field of rare diseases, including representatives from DG Sanco and DG Research funded projects, the rare disease patient organisations and the biopharmaceutical industry, especially welcomed the new EUCERD member representatives coming from each of the Member States and look forward to a positive and eventful collaboration.

The meeting kicked off with a review of the European Commission Decisions that led to the establishment of the EUCERD. The appointment of the Members of the Bureau of the Committee was the next order of business. Ségolène Aymé (Orphanet) was elected President of the Committee for a two-year term. The Bureau will have three Vice-presidents: Yann Le Cam (Eurordis), Kate Bushby (Treat-NMD) and Helena Kaariainen (National Institute for Health and Welfare Helsinki). Amongst other responsibilities, the Bureau establishes the agenda for upcoming EUCERD meetings. Following the Bureau elections, the Internal Rules of the EUCERD proposed by the Commission were discussed, amended and approved.

Next, Antoni Montserrat (Policy Officer for Rare and Neurodevelopmental Diseases – DG Sanco) proposed a Road Map for the Implementation of the EU policy on Rare Diseases 2010-2013. After discussion of certain elements, it was decided that a revised Commission would be sent to the EUCERD members for comment before the next meeting (tentatively scheduled for March 2011).

The second day of the EUCERD meeting kicked off with a presentation by Ségolène Aymé of the activities of the Scientific Support of the EUCERD. These include the OrphaNews Europe newsletter, the EUCERD website, the activities of the Working Groups of the EUCERD, and the initiatives on classification and codification on rare diseases, including the proposal for an EU/WHO Workshop on Classification and Codification for Rare Diseases. A report on the Initiatives and Incentive on Rare Diseases (2009) was presented by the corresponding Working Group. Plans were discussed for the next report which will cover the 2010 activities in this field.

Next, the state of the play of the Europlan Project was presented. This included the national plans or strategies for rare diseases; guideline documents proposed for the national Europlan conferences; a report on the outcome of the Europlan national conferences in 2010; and the closing Europlan conference taking place in Rome, Italy during February 2011.

The creation of the Network of Experts on Newborn Screening for some Rare Disorders was elaborated by Luciano Vittozzi in view of an expected Council Recommendation on the topic in 2012. An update was given by Gratiela Dobirta of the Medical and Public Health Research Unit (DG Research) on the Seventh Framework Programme and the Directorate-General Research activities in the field on rare diseases, as well as a report of a Workshop organised by the National Institutes of Health (USA) and the European Commission. A second Workshop, scheduled for Spring 2011 in Washington, DC (USA), will seek to form an international consortium on rare diseases to prioritise and organise research. It is possible that Japan will join this initiative.

Results of the DG-Sanco 2010 Call for Proposals of the Second Health Programme were presented by Stefan Schreck (Executive Agency for Health and Consumers). An update of the proposal for a Directive on Cross-Border Healthcare was delineated by Nick Fahy (Head of Health Information – DG Sanco). This proposal is in the final stages of adoption. The European Reference Networks on Rare Diseases are explicitly mentioned in the Directive. It should be determined whether this Directive has gone through by the next EUCERD meeting in March 2011. The first EUCERD meeting concluded with an overview of the decisions taken during the day and a half event. These include sending a letter to the WHO defining expectations for the revision process of the International Classification of Diseases (ICD 11) in the field of rare diseases; and sending a letter to the Member States urging them to develop a plan for their rare disease patients by 2013 as called for in the Council Recommendation. Also, three EUCERD Working Groups will be refined and will hold Workshops in 2011. These will focus on Centres of Expertise and European Reference Networks for rare diseases; Registries; and Coding and Classification. Furthermore, the EUCERD website will be adapted to meet the needs of members expressed during the meeting. Finally, a proposal for a future Joint Action to support the Scientific Secretariat of the EUCERD will be drafted.

While there is obviously an enormous amount of work to be done to meet the needs of rare disease patients and their families in Europe, the first meeting of the EUCERD held out hope that much can, and will, be accomplished.

EUCERD update
Happy Holidays from the European Union Committee of Experts on Rare Diseases


EU Policy News
E-Rare-2 launches 2011 joint call for transnational research projects on rare diseases

E-Rare-2, supported by the European Commission under the Seventh Framework Programme ERA-Net scheme, has launched the third E-Rare call for proposals. Research groups from nine countries from the European Research Area (Austria, Belgium, France, Germany, Greece, Israel, Italy, Spain and Turkey) are eligible to participate in this call that seeks to promote transnational research collaboration on rare diseases. Proposals must cover at least one of the following areas:
  • Definition of new nosological entities, epidemiological studies, genotype/phenotype correlations, natural history of diseases
  • Characterisation of the genetic/molecular basis of specific diseases
  • Pathophysiological and genetic studies of rare diseases
  • Diagnostic and therapeutic research (interventional clinical trials are excluded)

  • There will be a two-stage submission procedure: joint pre-proposals (in English) must be received by the Joint Call Secretariat no later than 31 January 2011 and only pre-proposals selected by the international Scientific Evaluation Committee will be invited to submit a full proposal (deadline 16 May 2011).
    Learn more


    New E-Register will increase transparency of pharmacovigilance research and improve patient safety
    The European Medicines Agency (EMA) has announced the launch of the ENCePP E-Register of Studies, a publicly available electronic register developed with the European Network of Centres for Pharmacoepidemiology and Pharmacovigilance (ENCePP) allowing users to consult the pharmaco-epidemiological and pharmacovigilance studies that are undertaken by academic centres and other research organisations. The E-Register offers a database resource of information on the safety and effectiveness of medicinal products. An added dividend of the E-Register is the contribution to the reduction of publication bias by “…handling both positive and negative study results in the same manner and promote exchange of information, thereby facilitating collaboration within the scientific community and preventing unnecessary duplication of research”. While the registration of a study in E-Register is completely voluntary, studies applying for the ‘ENCePP Studies’ seal that is “awarded to wholly or partially EU-based, benefit/risk studies that are carried out in compliance with the ENCePP Code of Conduct for independence and transparency and the ENCePP Checklist of Methodological Research Standards” need to register before they commence. Consult E-Register
    EMA’s Committee for Advanced Therapies adopts work programme geared to accelerating the process of bringing products to market
    The European Medicines Agency (EMA) formed the Committee for Advanced Therapies (CAT) – the EMA’s sixth scientific committee, following new European Union legislation concerning the regulation of advanced-therapy medicinal products (ATMPs) – an area promising to the field of rare diseases. The CAT met for the first time on 15 January 2009. Three types of advanced therapy products are defined in the EU legislation: gene therapy products, somatic cell therapy products, and tissue engineered products. Similar to the COMP, the CAT “prepare[s] a draft opinion on each advanced-therapy medicinal product submitted to the EMA for evaluation as part of a marketing-authorisation application, prior to the adoption of a final opinion by the Committee for Medicinal Products for Human Use (CHMP), which retains overall responsibility for scientific evaluation of human medicines at the EMA”. The CAT has now released its Work Programme for 2010-2015 with the overarching goal of bringing more advanced therapy products to the market. Measures, some of which are already underway, include “training and early dialogue” with relevant stakeholders and an examination of the existing regulatory framework with an eye to making it “…more accessible for small and medium-sized enterprises, academia, patient groups, hospitals, charity foundations and trusts developing ATMPs”. Learn more

    National & International Policy Developments
    Swedish Europlan conference gets rare disease discussions off the ground
    11 November marked Sweden’s turn to discuss a future national plan or strategy for rare diseases under the Europlan project. Organised by patient umbrella group EURORDIS and the Swedish Alliance for Rare Diseases, the conference attracted over 80 people from patient organisations, research, the medical field, industry, as well as health authorities, politicians and social workers. After a plenary session in the morning where the council recommendations and EUROPLAN project were presented, four different workshops took place. The first of these debated whether Sweden should align its rare diseases definition with the European one. Presently, rarity in Sweden is defined as a condition that affects less than one in 10,000. Some participants feared that should Sweden adopt the European definition, the voice of the ultra rare diseases would become comparably smaller in the rare disease community, as many more people with more common diagnoses would be included. This workshop also considered the World Health Organization’s ICD10 classification - currently used in Sweden but considered ineffective for rare diseases. It was requested that Sweden adopt ICD11 as early as possible upon its release. The Swedish national plan must ensure that patients have the right to the same quality health care independent of where they live or their diagnosis. It was also stressed that the plan should go beyond health care to include other aspects of society, such as the Swedish Social Insurance Office and the Swedish Public Employment Service. The second workshop addressed research. It was agreed that more money is needed for research on rare diseases. Currently there is no funding dedicated purely to rare diseases; rather all research projects are put together and supported by a bottom-up procedure. Suggestions to improve and enhance research included raising a fund dedicated to rare disease research, raising a fund for the support of rare disease clinical trials - particularly trials with established drugs for new settings and on new disorders; setting up more quality registers; and forming national medical centres, which would care for patients and also include interdisciplinary research, permitting researchers more contact with patients, medical professionals and other care givers. The third workshop focused on the centres of expertise and orphan drugs. Regional versus national centres were debated, with the majority present supporting the idea of national centres, which would best be developed at the university hospitals. Sustainability was stressed. For orphan drugs, the discussions mainly circled around financing. Sweden is divided into 21 counties and every county decides individually if it should prescribe an orphan drug to a patient. Many in the rare disease community hope that a national fund for orphan drugs will be set up in order to ensure a more equal distribution of orphan drugs throughout Sweden. Patient empowerment was discussed in the fourth workshop. Many patients asked for help-lines and for more information resources in Swedish, particularly for social issues. The financing of patient organisations was stressed, as it is vital for their survival. It is important that patients are included in reference groups and not excluded from important decisions that affect their lives.

    Although many constructive discussions were held during the day it has not yet been decided who will be responsible for the production of a plan, its implementation, sustainability and financing. So while the initial talks have put rare diseases on the agenda, a great deal of work remains before Sweden has a national plan for rare diseases ready to launch.

    Other European news
    New Rare Disease UK report highlights experiences of patients and families living with rare conditions

    A new Rare Disease UK report highlights a number of worrying issues experienced by patients and families affected by rare conditions in the UK. The report, Experiences of Rare Diseases: An Insight from Patients and Families, presents the views and experiences of 600 patients and families affected by over 100 different rare conditions on a wide range of topics ranging from research to diagnosis, access to care, information, support and treatment. Although some patients and families indicate positive experiences of timely diagnosis and good quality care and support from the National Health Service, such is not the case for the majority of patients and families with rare diseases. Some of the problems highlighted by the report include:

  • Significant delays in diagnosis
  • Misdiagnosis (often multiple times)
  • Patients “rattling around the system” visiting multiple specialists before obtaining an accurate diagnosis
  • Difficulties in accessing information and support
  • Fragmented and poorly coordinated care
  • Patients and families having to attend multiple hospital appointments often at a long distance from home
  • Problems during transition from paediatric to adult services
  • A lack of effective treatments
  • Inconsistencies in access to medicines
  • A lack of information and opportunities to be involved in research

  • Rare Disease UK is the national alliance for all stakeholders with an interest in rare diseases to come together to campaign for a national strategy for rare diseases in the UK. For more information or to request a copy of the report please contact Stephen Nutt (or by telephone: +44 20 7704 3141)
    Consult the report online

    TREAT-NMD database of European regulatory clinical trial documents adds countries, contact information

    As was reported in the 9 April 2009 issue of OrphaNews Europe, the European Network of Excellence TREAT-NMD makes freely available its web-based Regulatory Affairs Database containing national and EU-level legislative documents relevant to clinical trials. The database recently added information for Austria and Denmark with the help of contacts from the European Clinical Research Infrastructures Network (ECRIN). The database also now features related contact information for thirteen individual European countries, as well as European-level regulations and other international guidelines. At the national level, resources are available for Austria, Belgium, Denmark, Finland, France, Germany, Hungary, Italy, the Netherlands, Spain, Sweden, Switzerland and the UK. Experts with regulatory resources for other countries are invited to come forward with information in order to widen the range of the database. Consult the database


    Orphanet News
    What’s your opinion? Orphanet seeks input on its website

    Orphanet, the pan-European informational reference portal for rare diseases and orphan drugs, has launched its annual survey as part of the site's ambition to better comprehend and meet the needs of users. Available via the Orphanet website in English, French, German, Italian, and Spanish languages, readers are encouraged to take five minutes to respond to the survey and help make Orphanet the best it can be.

    New Texts
    New Orphanet Journal of Rare Diseases publications
    Fabry Disease
    Wolcott Rallison syndrome


    New Syndromes

    Autosomal recessive hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII
    Excessive chloride secretion in sweat (hyperchlorhidrosis), leading to a positive sweat test, is most commonly indicative of cystic fibrosis yet is found also in conjunction with various metabolic, endocrine, and dermatological disorders. There is conflicting evidence regarding the existence of autosomal-recessive hyperchlorhidrosis. The authors describe a consanguineous Israeli Bedouin kindred with autosomal-recessive hyperchlohidrosis whose sole symptoms are visible salt precipitates after sweating, a preponderance to hyponatremic dehydration, and poor feeding and slow weight gain at infancy. Through genome-wide linkage analysis, the authors demonstrate that the phenotype is due to a homozygous mutation in CA12, encoding carbonic anhydrase XII.
    Read the PubMed abstract

    Am J Hum Genet ; 713-720 ; 12 November 2010
    19p13.12 microdeletions: genotype-phenotype relationship in three overlapping cases
    The authors describe the detailed clinical and molecular characterisation of three patients (aged 7, 8 and 31 years) with overlapping microdeletions in 19p13.12, extending to 19p13.13 in two cases. The patients share the following clinical features with a recently reported 10-year-old girl with a 19p13.12 microdeletion: intellectual deficit, psychomotor and language delay, hearing impairment, brachycephaly, anteverted nares and ear malformations. All patients share a 359-kb deleted region in 19p13.12 harboring six genes (LPHN1, DDX39, CD97, PKN1, PTGER1 and GIPC1), several of which may be intellectual deficit candidates because of their function and expression pattern.
    Read the PubMed abstract

    Eur J Hum Genet ; 1302-1309 ; December 2010
    Spastic ataxia associated with defective mitochondrial mRNA maturation
    The authors report six Old Order Amish patients with autosomal-recessive spastic ataxia with optic atrophy and identified a mutation of the MTPAP gene associated with the disease phenotype.
    Read the PubMed abstract

    Am J Hum Genet ; 655-660 ; 12 November 2010

    New Genes

    Posterior column ataxia - retinitis pigmentosa: FLVCR1 mutations at cause
    Read the PubMed abstract
    To read more about "Posterior column ataxia - retinitis pigmentosa"

    Am J Hum Genet ; 643-654 ; 12 November 2010
    Spinocerebellar ataxia type 23: prodynorphin mutations at cause
    Read the PubMed abstract
    To read more about "Spinocerebellar ataxia type 23"

    Am J Hum Genet ; 593-603 ; 12 November 2010
    Familial aortic dissections: mutations in the myosin light chain kinase at cause
    Read the PubMed abstract
    To read more about "Familial aortic dissection"

    Am J Hum Genet ; 701-707 ; 12 November 2010
    Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q
    Read the PubMed abstract
    To read more about "Mesomelic dysplasia, Kantaputra type"

    Eur J Hum Genet ; 1310-1314 ; December 2010
    Loeys-Dietz syndrome: duplication of the TGFBR1 gene contributes to the phenotype
    Read the PubMed abstract
    To read more about "Aortic aneurysm syndrome, Loeys-Dietz type"

    Eur J Med Genet ; 408-410 ; Nov-Dec 2010
    Congenital dyserythropoietic anaemia and hereditary persistence of foetal haemoglobin: KLF1 at cause
    Read the PubMed abstract
    To read more about "Congenital dyserythropoietic anemia"
    To read more about "Hereditary persistence of fetal hemoglobin"

    Am J Hum Genet ; 721-727 ; 12 November 2010
    Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
    Read the PubMed abstract
    To read more about "Fibrochondrogenesis"

    Am J Hum Genet ; 708-712 ; 12 November 2010
    Intellectual disability, autism, and language impairment: de novo mutations in FOXP1 identified
    Read the PubMed abstract
    Am J Hum Genet ; 671-678 ; 12 November 2010
    Complex I deficiency: exome sequencing identifies ACAD9 mutations as a cause
    Read the PubMed abstract
    To read more about "NADH-CoQ reductase deficiency"

    Nat Genet ; 1131-1134 ; December 2010
    Silver-Russell syndrome: newly identified loci confirm aetiological heterogeneity
    Read the PubMed abstract
    To read more about "Silver-Russell syndrome"

    J Med Genet ; 816-822 ; December 2010

    Research in Action

    Fundamental Research
    Cystic fibrosis: reduced insulin-like growth factor 1 levels at birth observed
    Read the PubMed abstract
    To read more about "Cystic fibrosis"

    PNAS USA ; 20571-20575 ; 23 November 2010
    Rett syndrome: a model for neural development and treatment using human induced pluripotent stem cells
    Read the PubMed abstract
    To read more about "Rett syndrome"

    Cell ; 527-539 ; 12 November 2010
    Marfan syndrome: effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe form
    Read the PubMed abstract
    To read more about "Marfan syndrome"

    Hum Mol Genet ; 4790-4798 ; 15 December 2010
    Clinical Research
    Congenital myasthenic syndromes: multiexon deletions account for 15% of cases with RAPSN mutations
    Read the PubMed abstract
    To read more about "Congenital myasthenic syndromes"

    J Med Genet ; 795-796 ; December 2010
    Gene Therapy
    Duchenne muscular dystrophy: Improvement of the mouse dystrophic phenotype by in utero AAV8 delivery of a minidystrophin gene
    Duchenne muscular dystrophy (DMD) is a devastating primary muscle disease with pathological changes in skeletal muscle that are ongoing at the time of birth. Progressive deterioration in striated muscle function in affected individuals ultimately results in early death due to cardio-pulmonary failure. As affected individuals can be identified before birth by prenatal genetic testing for DMD, gene replacement treatment can be started in utero. To test in utero gene transfer in the mdx mouse model of DMD, a minidystrophin gene driven by the human cytomegalovirus promoter was delivered systemically by an intraperitoneal injection to the fetus at embryonic day 16. Treated mdx mice studied at 9 weeks after birth showed widespread expression of recombinant dystrophin in skeletal muscle, restoration of the dystrophin-associated glycoprotein complex in dystrophin-expressing muscle fibers, improved muscle pathology, and functional benefit to the transduced diaphragm compared with untreated littermate controls. These results support the potential of the AAV8 vector to efficiently cross the blood vessel barrier to achieve systemic gene transfer to skeletal muscle in utero in a mouse model of muscular dystrophy, to significantly improve the dystrophic phenotype and to ameliorate the processes that lead to exhaustion of the skeletal muscle regenerative capacity.
    Read the PubMed abstract

    To read more about "Duchenne and Becker muscular dystrophy"

    Gene Ther ; 1355-1362 ; November 2010
    Therapeutic Approaches
    Mucopolysaccharidosis type II: correction of CNS defects in mouse model via systemic enzyme replacement therapy
    Read the PubMed abstract
    To read more about "Mucopolysaccharidosis type 2"

    Hum Mol Genet ; 4871-4885 ; 15 December 2010
    Aggressive NK-cell leukemic: targeting of survivin by nanoliposomal ceramide induces complete remission in a rat model
    Read the PubMed abstract
    To read more about "Aggressive NK-cell leukemia"

    Blood ; 4192-4201 ; 18 November 2010
    Retinitis pigmentosa: systemic drug therapy targeting heat shock protein 90 suppresses mutant protein
    Read the PubMed abstract
    To read more about "Retinitis pigmentosa"

    Hum Mol Genet ; 4421-4436 ; 15 November 2010
    Rett syndrome: correction of respiratory disorders in a mouse model
    Read the PubMed abstract
    To read more about "Rett syndrome"

    PNAS USA ; 18208-18213 ; 19 October 2010

    Patient Management and Therapy

    Erdheim-Chester disease: rationale and efficacy of interleukin-1 targeting
    Erdheim-Chester disease (ECD) pathophysiology remains largely unknown. Its treatment is not codified and usually disappointing. Interferon (IFN)-α therapy lacks efficacy for some life-threatening manifestations and has a poor tolerance profile. Because interleukin (IL)-1Ra synthesis is naturally induced after stimulation by IFN-α, the authors hypothesised that recombinant IL-1Ra (anakinra) might have some efficacy in ECD. They treated 2 patients who had poor tolerance or contraindication to IFN-α with anakinra as a rescue therapy and measured their serum C-reactive protein, IL-1β, IL-6, and monocytic membranous IL-1α (mIL-1α) levels before, under, and after therapy. Another untreated ECD patient and 5 healthy subjects were enrolled as controls. After treatment, fever and bone pains rapidly disappeared in both patients, as well as eyelid involvement in one patient. In addition, retroperitoneal fibrosis completely or partially regressed, and C-reactive protein, IL-6, and mIL-1α levels decreased to within the normal and control range.
    Read the PubMed abstract

    To read more about "Erdheim-Chester disease"

    Blood ; 4070-4076 ; 18 November 2010
    Mucopolysaccharidosis type II: first experience of enzyme replacement therapy with idursulfase in patients under 5 years
    Hunter syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulphatase, resulting in accumulation of glycosaminoglycans (GAGs), multisystem organ failure and early death. Enzyme replacement therapy (ERT) with idursulfase is commercially available since 2007. Limited information on the effects of ERT in young children is available to date. The authors report data from six Spanish patients with confirmed Hunter syndrome who were younger than 5 years at the start of ERT, and had been treated with weekly intravenous infusions of idursulfase between 6 and 14 months. At baseline, all patients showed neurological abnormalities, including ventriculomegaly, hydrocephaly, cerebral atrophy, perivascular changes and white matter lesions. Other signs and symptoms included thoracic deformity, otitis media, joint stiffness and hepatosplenomegaly, demonstrating that children under 5 years old can also be severely affected. ERT reduced urinary GAG levels, and reduced spleen and liver size after only 8 months. Height growth was maintained within the normal range during ERT. Joint mobility either stabilised or improved during ERT.
    Read the PubMed abstract

    To read more about "Mucopolysaccharidosis type 2"

    Eur J Med Genet ; 371-377 ; November-December 2010
    Wiskott-Aldrich syndrome: stem-cell gene therapy improves clinical condition
    The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder associated with thrombocytopenia, eczema, and autoimmunity. The authors treated two patients with a transfusion of autologous, genetically modified hematopoietic stem cells (HSC). They found sustained expression of WAS protein expression in HSC, lymphoid and myeloid cells, and platelets after gene therapy. T and B cells, natural killer (NK) cells, and monocytes were functionally corrected. After treatment, the patients' clinical condition markedly improved, with resolution of hemorrhagic diathesis, eczema, autoimmunity, and predisposition to severe infection. Comprehensive insertion-site analysis showed vector integration that targeted multiple genes controlling growth and immunologic responses in a persistently polyclonal hematopoiesis.
    Read the PubMed abstract

    To read more about "Wiskott-Aldrich syndrome"

    N Engl J Med ; 1918-1927 ; 11 November 2010
    Cardiomyopathies: genetic counselling and testing - a position statement of the European Society of Cardiology
    Advances in molecular genetics present new opportunities and challenges for cardiologists who manage patients and families with cardiomyopathies. The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general issues related to genetic counselling, family screening and genetic testing in families with a cardiomyopathy, and to provide key messages and suggestions for clinicians involved in their management.
    Read the PubMed abstract

    To read more about "Cardiomyopathy"

    Eur Heart J ; 2715-2726 ; November 2010
    Immune thrombocytopenia: romiplostim versus standard of care
    Romiplostim, a thrombopoietin mimetic, increases platelet counts in patients with immune thrombocytopenia, with few adverse effects. In this open-label, 52-week study, the authors randomly assigned 234 adult patients with immune thrombocytopenia, who had not undergone splenectomy, to receive the standard of care (glucocorticoid) or weekly subcutaneous injections of romiplostim. Primary end points were incidences of treatment failure and splenectomy. Secondary end points included the rate of a platelet response, safety outcomes, and the quality of life. Patients treated with romiplostim had a higher rate of platelet response, lower incidence of treatment failure and splenectomy, less bleeding and fewer blood transfusions, and a higher quality of life than patients treated with the standard of care.
    Read the PubMed abstract

    To read more about "Immune thrombocytopenic purpura"

    N Engl J Med ; 1889-1899 ; 11 November 2010

    Orphan Drugs
    Orphan drugs: a perspective from industry seeks to clarify misconceptions
    In a Perspectives piece appearing in Nature Reviews Drug Discovery, Genzyme Corporation’s Erik Tambuyzer identifies several perceived misconceptions around the regulation and pricing for orphan drugs - complex topics that are currently in the limelight. While orphan drug legislation in Europe and beyond has greatly improved the offer of products on the market, “nevertheless, even in countries with existing legislation, many patients with rare diseases are still faced with many challenges in receiving appropriate care, owing to low disease awareness and limited access to medical expertise, diagnostic testing and therapies”. The first misconception that the author introduces is “…that patients with a particular rare disease are readily identified before the development of a potential orphan drug starts and that ample information about the disease and its epidemiology is available”. In fact, the opposite is often true. The rarity of a disease often leads to a lack of data on its characteristics and epidemiology. This lack of awareness can lead to under- or mis-diagnosis resulting in a dearth of identified patients. Thus a “key challenge” to orphan drug development is identifying patients for clinical studies. Another “commonly encountered view” is that “society is paying twice for orphan drugs; once by providing public funds for research and again by paying for approved orphan drugs”. The author points out that basic research in almost all scientific domains is undertaken by academia, that it is essential to translational research, and that clinical research comes with its own high costs – especially in the field of rare diseases where locating patients and then gathering them together for a trial can quickly add up. Manufacturing and quality considerations can also drive up costs, especially for biologic therapies. Still another misconception identified by the author is that “orphan drugs are cheaper to develop than other drugs because smaller clinical trials are required and they are subject to different regulatory standards”. In fact, disease rarity brings “complications” to each step of the developmental process: “Challenges for orphan drug development typically include lack of data on the natural course of the disease, poor or late diagnosis, lack of validated clinical end points, major logistical difficulties in the organization of clinical trials and low expertise in the medical community”. Another misconception discussed is that the market exclusivity afforded by the orphan drug regulation leads to monopolisation. It must be remembered, however, that designation is only granted for indications that have no existing treatment, “except if the new treatment proposed for designation will have significant benefit for patients”. Furthermore, while market exclusivity prevents “similars” from being developed, products with a different active ingredient can be introduced for the same indication. Third, "a clinically superior product, even if it is similar, can break the market exclusivity of a marketed orphan drug. This is stipulated in the orphan drug regulations of the United States and of the European Union”. Other issues that the author identifies and discusses include the “salami-slicing” of diseases into smaller subsets and the misconception “that orphan drug regulations and incentives have not been successful because a large number of orphan designations have been awarded but few of the designated products have been authorized”. In terms of orphan drug pricing and healthcare budgets for orphan drugs, it is pointed out “that the price of an orphan drug is a function of the rarity of the treated disease. In the event that the market size increases, competition will enter, introducing both pricing pressure and potentially better therapies. If the market remains small, then little or no competition will enter because the clinical problem has been addressed or the market is simply not large enough to attract other companies. In both cases, the overall cost to society remains small.” The topics of access, cost effectiveness, and reimbursement are also evoked, along with a consideration of rare cancers. The article concludes with some suggestions from the perspective of industry on how to improve the orphan drug situation to render it more fair, productive and satisfactory to all players.
    Read the PubMed abstract


    Courses & Educational Initiatives

    Rare Solid Cancers: An Introduction
    Organised by the European School of Oncology in collaboration with the Rare Care project. This course, being held in Stresa, Italy from 31 March – 1 April 2011, will focus on all the main rare solid cancers of the adult. Rare cancers present particular challenges, such as organisation of care and methodology of clinical studies. Oncologists, epidemiologists and health administrators will particularly find this course useful.
    For further details

    Course on practical clinical, radiological and pathological diagnosis of skeletal tumours
    Organised by the European network of excellence EuroBoNeT in collaboration with Leiden University Medical Center and taking place from 14-16 February 2011 in Leiden, the Netherlands, this course will focus on the use of clinical and radiodiagnostic data, and the pathological differential diagnosis of bone tumours. Practical training in the form of computerised microscopy training and discussion of relevant molecular biology techniques will form the core of the course. Orthopaedic surgeons, (trainee) pathologists, radiologists, clinical oncologists and paediatricians will particularly find this course useful.
    For further details

    European Advanced Postgraduate Course in Classical and Molecular Cytogenetics
    This ten-day course held in February/March each year 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. The students will be trained to identify genetic abnormalities for diagnosis and prognosis, and for fundamental and applied research using both classical and molecular cytogenetic techniques. The course is co-organised by the European Cytogeneticists Association and two French Universities, either as a stand-alone course with only the theoretical part or as a University Diploma including both theoretical and practical training. For further details
    ESH Enerca Training Course on Haemoglobin disorders: Laboratory diagnosis and Clinical Management
    In association with the Thalassaemia International Federation, this course, being held from 1-2 April 2011 in Brussels, Belgium, will address: Thalassaemias - Clinical and Molecular Aspects; Laboratory Diagnosis in Thalassaemia Syndromes; Sickle Cell Disease: Clinical Aspects; Abnormal Haemoglobins; Epidemiology of Haemoglobin Disorders; and more. For further details
    Orphan Academy 2011 programme
    The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases.
    For further details

    EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
    The European network of excellence for all aspects of genetic testing, EuroGentest, under its Quality Management and Accreditation/Certification of Genetic testing Workgroup, has several training workshops available around Europe in coming months that focus on accreditation and quality assurance.
    For further details

    Master of Science in Haemoglobinopathy
    A unique opportunity for health professionals to specialise in the field of haemoglobinopathies online with minimum disruption to professional and personal lives. The course has been designed to meet the needs of a wide range of medical professionals, including medical graduates interested in haemoglobinopathy (general physicians, specialists such as paediatricians, haematologists, clinical geneticists, obstetricians/gynaecologists, behavioural scientists); science graduates interested in medical research related to haemoglobinopathy and genetics; and other healthcare professionals interested in haemoglobinopathy – such as counsellors, clinical psychologists, nurse specialists and midwives.
    For further details


    What's on Where?

    4th International Workshop on Alkaptonuria
    Date: 10-11 January 2011
    Venue: Cambridge, England

    Topics will include: Intervertebral Disc Degeneration and Osteoarthritis; Osteoarthropathy of Alkaptonuria; Murine Models of Alkaptonuria; Findings from a Clinical Evaluation Study of Alkaptonuric Patients; Future prospects for a UK Clinical Trial on Alkaptonuria; Antioxidants and their Role in the Treatment of Alkaptonuria.
    For further details

    4th International Meeting on the Congenital Disorders of Glycosylation and Related Disorders
    Date: 13-14 January 2011
    Venue: Leuven, Belgium

    The meeting will cover all aspects of these disorders, including the discovery of novel types, the study of fundamental aspects of glycosylation, analytical procedures and diagnostic methods and the analysis of models for the disease. The meeting is organised by EUROGLYCANET, a European network for the advancement of research, diagnosis and treatment of a growing group of rare disorders.
    For further details

    2nd Annual Commercialisation & Market Access Strategies for Orphan & Ultra-Orphan Drugs
    Date: 17 February 2011
    Venue: Barcelona, Spain

    The event will be focused on orphan therapies and will guarantee all participants access to today’s most relevant case studies and views which directly affect their future business plans and can assist them to maximise market and patient access.
    For further details

    4th International Symposium on Pulmonary Rare diseases and Orphan Drugs
    Date: 25-26 February 2011
    Venue: Milan, Italy

    This event will explore issues in rare lung diseases and the development of orphan medicinal products and other therapeutic options for these disorders.
    For further details

    Third International Symposium on Paediatric Movement Disorders
    Date: 25-26 February 2011
    Venue: Barcelona, Spain

    This event aims to continue the collaborative activities between professionals interested in paediatric movement disorders, mainly neurologists and neuropaediatricians. As in the previous symposiums qualified experts in the different aspects involved in paediatric movement disorders will increase knowledge, and serve to establish interesting contacts and develop creative ideas. Some newly recognised and treatable inborn errors of metabolism that may present with movement disorders in childhood (i.e. Glut-1 Deficiency, Cerebral Folate Deficiency and Dopamine Transporter Defects) will be presented.
    For further details

    Genetic Diseases of Children…Advancing Research & Care
    Date: 7-9 March 2011
    Venue: NY, USA

    The conference will bring together over 1000 researchers, clinicians, affected families, government and industry leaders for the purpose of advancing research to improve health outcomes for children with genetic diseases.
    For further details

    Second ASID Congress of the African Society for Immunodeficiencies
    Date: 10-13 March 2011
    Venue: Hammamet, Tunisia

    This second congress will be an excellent opportunity to strengthen the capacity of colleagues all over the continent to better diagnose and manage patients with PIDs. The commitment and contribution of international experts, societies and associations to this process is highly appreciated.
    For further details

    Human Genome Meeting 2011: Genomics of Human Diversity and Heritable Disorders
    Date: 14-17 March 2011
    Venue: Dubai, United Arab Emirates

    Including symposia on the Genetics of Heritable Disorders; Cancer Genomics; Inborn Errors of Metabolism and Therapy of Genetic Disorders; Computational Biology and Statistical Genetics for the Analysis of Human Disease; Genetics of Deafness & Neurologic Disorders; and Advances in Genetics of Heritable Disorders.
    For further details

    11th International Congress of the European Society of Magnetic Resonance in Neuropediatrics
    Date: 24-26 March 2011
    Venue: Amsterdam, Netherlands

    Bringing together neuroscientists, paediatric neurologists, scientists interested in developmental paediatrics, neonatologists, neuroradiologists, neuropsychologists, neurophysiologists and physicists to discuss the newest developments in advanced neuroimaging and image guided therapeutic approaches in the fields of normal and abnormal brain development and brain functions, which will be presented by internationally recognised experts.
    For further details

    World Orphan Drug Congress USA 2011
    Date: 13-15 April 2011
    Venue: Washington DC, USA

    Bringing together industry leaders, government, and research organisations to address the opportunities and challenges for the commercialisation of drugs to treat rare diseases.
    For further details

    12th International Conference on Thalassaemia and the Haemoglobinopathies
    Date: 11-14 May 2011
    Venue: Antalya, Turkey

    The main topics will include epidemiology and prevention; heart and vascular abnormalities; reproduction and pregnancy; quality care for quality of life; other haemoglobin disorders; haemopoietic stem cell transplantation; gene regulation and therapy; and much more. Deadline for abstract submission: 15 February 2011.
    For further details

    Ninth European Paediatric Neurology Society Congress
    Date: 11-14 May 2011
    Venue: Cavtat (Dubrovnik), Croatia

    The programme includes basic neuroscience and neurobiology, new treatment approaches in muscular disorders, neuro-othology and neuro-opthalmology, advanced critical care and ethics in paediatric neurology as well as practical clinical knowledge in the skills of electroencephalography and electromyography via comprehensive workshops.
    For further details

    First International Symposium on Childhood, Adolescent and Young Adult Hodgkin Lymphoma
    Date: 12-14 May 2011
    Venue: Arlington, Virginia USA

    This event seeks to: provide a platform for global collaboration; establish networks of multidisciplinary caregivers; identify leaders for specific projects; promulgate tools for communication and collaboration; and develop standards of care for children with HL.
    For further details

    VII International Conference on Rare Diseases and Orphan Drugs (ICORD 2011)
    Date: 21-23 May 2011
    Venue: Tokyo, Japan

    A global meeting on international cooperation and public health policies focussing on research, diagnosis, development of and access to treatment and care for rare diseases. The programme for this conference will be available shortly.
    For further details

    Eighth European Cytogenetics Conference
    Date: 2-5 July 2011
    Venue: Porto, Portugal

    This meeting will provide the participants with an opportunity for not only contributing their knowledge and experience, but also for interacting with each other. Deadline for abstract submission: 28 February 2011.
    For further details

    European Conference on Post Polio Syndrome
    Date: 31 August – 02 September 2011
    Venue: Copenhagen, Denmark

    This international conference is being held by the European Polio Union, and The Danish Society of Polio and Accident Victims.
    For further details

    5th International Conference on Birth Defects and Disabilities in the Developing World
    Date: 24-27 September 2011
    Venue: Lodz, Poland

    The primary theme of the conference will be economics of healthcare and methods for establishing sustainable financial resources to implement programs of value to health and assure access to care. Other topics include integration of services into national primary health programs for care of neonates and children with birth defects and disabilities; monitoring risk factors for major defects globally; preconception care; and development of networks and partnerships for most efficient utilization of the limited resources.
    For further details

    Treat-NMD Global Conference
    Date: 8-11 November 2011
    Venue: Geneva, Switzerland

    The conference will comprise a range of sessions addressing the challenges in the neuromuscular field, including: Delivery of future therapies; Biomarkers; Care considerations; Neuromuscular diseases and society; and Regulatory issues, orphan drugs and the rare disease field.
    For further details


    Press & Publications
    Quality Issues in Clinical Genetic Services

    Authors: Kristoffersson, U; Schmidtke, J; Cassiman, J. J. -Eds.
    Publisher: Springer, May 2010
    ISBN: 978-90-481-3918-7

    This text contains the input of experienced stakeholders from Network of Excellence EuroGentest, Orphanet, and other relevant organisations. Designed to help laboratory managers and counsellors, health care managers and others involved in genetic services on the national or international level to optimise the quality of care offered to patients, of particular interest to rare disease genetic testing is the chapter “Genetic Diseases as Rare Diseases: the European Policy View”, as well the discussions on establishing and maintaining quality in transborder test samples. International quality criteria is discussed, country-specific perspectives are provided, along with regulatory issues, international conventions, ethical aspects, genetic testing services in developing economies, and more.


    Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
    Orphanews Europe is supported by the European Commission's DG SANCO
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Ségolène Aymé
    Editor: Louise Taylor
    Contact Us
    Editorial Board: Ségolène Aymé, Catherine Berens, Olaf Bodamer, Raphaël Demonchy, Helen Dolk, Anders Fasth, Laura Fregonese, Edmund Jessop, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Paloma Tejada, Aurélie Vandeputte
    National Contact Point: Till Voigtländer (Austria), Jean Jacques Cassiman (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), Andres Metspalu (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann (Germany), Michael Petersen (Greece), János Sándor (Hungary), Andrew Green (Ireland), Judith Melki (Israel), Bruno Dallapiccola and Domenica Taruscio (Italy), Andre Megarbane (Lebanon), Vaidutis Kucinskas (Lithuania), Alfred Cuschieri (Malta), Abdelaziz Sefiani (Morocco), Martina Cornel (Netherlands), Stein Are Aksnes (Norway), Jolanta Sykut-Cegielska (Poland), Jorge Sequeiros (Portugal), Dragica Radojkovic (Serbia), Ludovit Kadasi (Slovakia), Borut Peterlin (Slovenia), Miguel del Campo and Manuel Posada de la Paz (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Habiba Chaabouni-Bouhamed (Tunisia), Fatmahan Atalar and Ugur Ozbek (Turkey), Edmund Jessop and Idoia Gomez-Paramio (United Kingdom)
    For more information on the European Union Committee of Experts on Rare Diseases
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