5 June 2006 print
Spotlight on...
EU Policy
National Policy News
Research in Action
Orphan Drugs
Ethical, Legal & Social
European Rare Disease Networks Update
Patients Associations
Press & Publications
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A year of partnership
We are very pleased to present the first-year anniversary issue of OrphaNews Europe. The past twelve months have witnessed a flurry of rare disease activities: breakthroughs in research and development, advances in regulations, new medicinal products available on the market, individual countries developing rare diseases policies and programmes, and international databases, registries and patient groups springing up for true partnership and collaboration. It is an honour for OrphaNews Europe to record these developments as they unfold and present them to our readers.

Thank you to the hundreds of readers who took the time to respond to our Reader Survey sent out last month. Your feedback will help us streamline efforts to better meet your needs. We received replies from 28 individual countries across the globe. Some of you took extra time to write your thoughts and suggestions – we are studying these carefully and will try to incorporate your ideas into future newsletters. We are extremely happy to note the general satisfaction with OrphaNews Europe and the degree to which our readers find it useful and interesting. There is, of course, always room for improvement, and we hope to evolve in response to your needs. Considering the majority of survey respondents (73%) who chose “Research Developments” as amongst the sections of the newsletter they follow most closely, an immediate response on our part will be to include brief summaries of all newly published research articles in the areas of new diseases and syndromes, new rare disease genes, and new clinical and basic research, starting in the Autumn. If you haven’t had time to return your survey, it is never too late. Your ideas and opinions will always be taken into account.

Spotlight on...
A breath of fresh AIR
The Alpha One International Registry (AIR) was established in the mid-1990s following recommendations set forth by the World Health Organization. A multinational collaboration of physicians and scientists, AIR consists of registries and research efforts present in some 20 countries worldwide dedicated to further understanding and treating alpha-1 antitrypsin deficiencies (AAT). A confidential database located in Sweden receives anonymous yet detailed clinical information concerning patients who have registered with one of the national registries present in each participating country.

AIR has diverse ongoing research initiatives. Members collaborate on research projects, depending on particular areas of expertise. Current projects include a large genetic study designed to examine modified genes, and another study seeking biomarkers for lung diseases. In addition, AIR has just submitted an EU FP6 grant proposal, dubbed PAAIR. Mapping new countries and patient organisations as well as answering public health questions figure amongst the goals of the proposal.

Another area of research concerns an appeal made to the pharmaceutical industry to initiate clinical trials for some of the innovative compounds being developed for AAT-related diseases. In response to this, there are presently three clinical trials underway aimed at detecting new therapies.

AIR’s user-friendly website contains a homepage for each country participating in the endeavor. Each homepage provides local information, as well as details of research efforts being carried out in that country. Many useful links are also provided. Another feature of the site is a cost-free confidential diagnostic testing service for patients wishing to join AIR. Each country’s homepage is available in the language of that country.

Here is a quick survey of some individual country’s activities as listed on their homepage:

  • The US centre for AIR is sponsored by the AAT Deficiency Detection Centre, which has tested some 30,000 individuals and identified approximately 25% of all patients known to have ATT deficiency in the US.

  • Switzerland has a national registry consisting of some 70 patients at the Pulmonary Division of the University Hospital of Zurich. The Swiss group is involved in a multinational, EU-supported study designed to investigate the reproducibility and variability of radiological lung density assessment for quantifying pulmonary emphysema by CT scans of the lung. Other studies being planned in conjunction with other AIR group centres include the effect of various genetic factors on the ion of emphysema and novel therapeutic strategies.

  • The UK centre is also called the Antitrypsin Deficiency Assessment and Programme for Treatment (ADAPT). Latest statistics show some 700 patients in the registry, which grows by over 12 patients per month.

  • The South African centre exists within the University of Cape Town Lung Institute, and is authorized and supported by the South African Thoracic Society. The South African centre was a founding member of AIR. AAT deficiency is very rare in Africa and is eclipsed by other serious and more common respiratory illnesses. AAT replacement therapy in not available in the continent. Thus, publicising AAT deficiency is a major goal of the South African registry.

  • With the success of its multinational collaborations, AIR could be considered a role model for other European and international partnership efforts.


    EU Policy News
    Recent EU rulings may benefit generics market
    Two separate regulations recently adopted impact the pharmaceutical industry to the benefit of companies producing generic medicinal products. The first decision thwarts pharmaceutical companies from filing supplementary protection certificates (SPCs) for certain products, based on a ruling by the European Court of Justice that SPCs cannot apply to products touting two ingredients when only one has therapeutic effects on its own. The decision allows generic makers to enter the market earlier for these products. According to the European Generics Association, more than 8000 SPCs were filed in Europe between 1991 and 2003.

    The second regulation allows compulsory licensing for patented medicines for exportation to developing countries unable themselves to produce them. Generic companies will not be obliged to consult the patent owner. Countries in need will have to furnish a list of the medicines they need. The regulation comes into effect in all EU member states twenty days after its publication in the Official Journal of the EU. Re-importation of the drugs is clearly prohibited. It is of course hoped that the countries in need will remember rare disease patients in formulating their lists of medicinal products needed.

    New Health EU portal launches - including rare diseases section
    The European Union Public Health Programme (2003-2008) Health-EU Portal initiative has launched in a colourful, user-friendly format. Designed for the European public, the new portal is available in all 20 official EU languages and also has information destined for health care professionals. Best of all, the portal contains a Rare Diseases section that includes general information on rare diseases, specific links to EU activities (including the Rare Diseases Task Force), and the latest orphan drug legislative news and research developments and projects.
    DG Research
    Green light for FP7 budget – embryonic stem cell research debated
    Following the agreement on the financial perspectives for 2007-2013, the proposed European Union Seventh Framework Programme (FP7) research budget for 2007-2013 amounts now to €50.5 billion, compared to the initial €72.7 billion Euro proposal of the European Commission. The €50.5 billion nevertheless represents a €300 million increase for FP7, in comparison to the proposal emanating from the December 2005 summit. Reactions to the announcement have been mixed; many share the consensus that although the budget was less than what was desired, it was more than what was expected. It is strongly hoped, of course, that the interesting initial proposals made by the EC in the field of rare diseases will not be impacted by any reductions in budget. The European Parliament will vote on the FP7 proposal of the Commission, and on the controversial issue of human embryonic stem cell research in its June plenary session in Strasbourg. This position will then have to be agreed to by the Council.
    European Research Council unveils its start up strategy
    According to a document outlining the launch strategy of the European Research Council (ERC), created to promote and encourage ground-breaking basic research in Europe, priority will be given during the start-up phase to supporting young independent researchers via some €300 million annual financing. The basis of the ERC’s Seventh Framework Programme (FP7) operations for 2007–2013 will be two funding streams: The ERC Starting Independent Research Grant Scheme and the Advanced Investigator Research Grant Scheme. The ERC is expected to be operational from the outset of FP7 early next year.
    EMEA welcomes eight new COMP members
    The EMEA's Committee for Orphan Medicinal Products announced in a recent press release the arrival of eight new members: Dr Bożenna Dembowska-Bagińska (Poland), Dr Julia Dunne (CHMP representative), Dr Pauline Evers (patient’s organization representative), Dr Aušra Matulevičienė (Lithuania), Dr Miranda Siouti (Greece), Dr Evija Strode (Latvia), Prof. Josep Torrent-Farnell (Spain), and Dr Bettie Voordouw (the Netherlands). The new arrivals replace outgoing members. A new Chair and Vice-Chair are due to be elected during the June COMP meeting.

    National & International Policy Developments
    Other European news
    EPPOSI releases report of sixth annual workshop
    The European Platform for Patients’ Organisations, Science and Industry (EPPOSI) has released the official report of its Sixth Annual Workshop on Partnering for Rare Disease Therapy Development, Patients with rare diseases – no longer alone in the world. Held in London, England last October, the event brought together rare disease experts and interested players from Europe, the US and diverse countries such as India, Tunisia and Russia. Key outcomes emphasise consensus building between stakeholders from different areas of interest, partnerships constructed on consensus, and keeping patients at the centre of the process.

    The next EPPOSI workshop, to be held in Madrid on 26-27 October 2006, is entitled Positioning Rare Diseases on the Healthcare Agenda and will include, besides the title topic, sessions on enabling the appropriate assessment of new therapies, evaluating the benefit of therapies for patients and their families, facilitating the development of orphan indications of marketed drugs, and ensuring patient access to optimal treatment. For more information, visit the EPPOSI website.

    Belgian researchers ENDEAVOUR to identify disease genes
    Researchers from Belgium’s University of Leuven have developed a computer programme that compiles and processes information from various databases in order to identify genes key to specific disorders. As reported in the journal Nature Biotechnology, the researchers succeeded in identifying a major gene involved in DiGeorge syndrome during the validation process. Dubbed ENDEAVOR, the programme gathers gene data and integrates them into a mathematical model that enables scientists to study the similarities between genes already familiar to researchers and those whose functions are to date unknown.
    Researchers in Denmark and Slovakia evaluate rare disease treatments
    Two recently published papers consider treatments for patients suffering from rare diseases. Optimising treatment for people with rare diseases, published in Danish language journal Ugeskr Laeger, examines the utility of centres of reference in treating patients. Chance for patients with rare diseases – “Orphan” medicinal products published in Slovak in the review Casopis Lekaru Ceskych, presents an overview of orphan medicine treatments and current EU policy on the issue. Abstracts in English are available for both articles on PubMed.
    Swedish survey finds parents favour child participation in clinical trials
    A major interdisciplinary study conducted at Uppsala University in Sweden found that expecting parents overwhelmingly favour the inclusion of children in clinical trial research – even their own children. Of over 800 parents-to-be surveyed on the issue, a large majority felt that child participation in clinical research is needed and that both parents and physicians should be involved in decision-making. Results of the study were published in the Uppsala Journal of Medical Sciences.
    Amsterdam home to 38th European Human Genetics Conference
    From 6-9 May, the 2006 European Human Genetics Conference took place in Amsterdam. With a jam-packed scientific programme featuring a cornucopia of outstanding international speakers and over 150 exhibitors, the event facilitated a true exchange of information on the latest developments in the fields of human genetics and genomics. Orphanet took its place amongst the exhibitors, attracting attention to the cause of rare disease research and treatments.

    Iceland launches research repository
    Landspitali University Hospital of Iceland, the country’s main teaching hospital with an estimated 400 ongoing clinical and basic research projects, has launched an institutional archive using BioMed Central’s Open Repository service. Although some titles came up in Icelandic, abstracts for most articles were available in English. A quick survey by OrphaNews Europe found a few studies concerning rare diseases, including idiopathic thrombocytopenic purpura, acute myeloid leukemia, and gastrointestinal stromal tumor. Thus, the service may provide an opportunity to keep abreast of rare disease research being conducted in Iceland.
    French national assembly hosts rare disease colloquium
    The fight against rare diseases: hope was the title of a colloquium held at the French National Assembly on 11 May. The two principal themes of the meeting were the construction of regional centres for disabled persons, designed to be one-stop shops for patients, providing resource information and particularly help with reimbursement issues, and the state of rare disease research in France, which emphasised the growing European collaboration. Deputy Marc Laffineur, president of a French study group on orphan diseases presented a discourse, as did Minister of Health Xavier Bertrand, who in particular acknowledged the accomplishments of Orphanet during his presentation.
    French rare disease helpline issues 2005 annual report
    Maladies Rares Info Services,a non-profit telephone and internet information service with a team of six, including two physicians and a volunteer experienced in the area of social security reimbursement, serves all of France to provide rare disease resource information. A recently-released summary of the group’s 2005 activities shows that over 7000 phone calls, emails and letters were received last year, concerning over 1000 different illnesses. Almost 90% of the requests came from patients or their families/friends, while over 8% came from professionals. The majority of requests are for information on a particular disease (59%), with some 20% of callers seeking contact information for patient organisations, and 16% contact information for specialised medical services. The simple need to discuss the disease and receive support from the advisors often precedes or accompanies the demand for a particular request. An analysis of the different rare disorders concerned highlights the wide diversity within the scope of “rare diseases”. Maladies Rares Info Services is part of the French rare disease platform, along with Orphanet and Eurordis, amongst others.
    FDA's Orphan Products Office director visits Orphanet platform
    Dr. Marlene E. Haffner, director of the US Food and Drug Administration's Office of Orphan Products Development, recently visited the French Rare Diseases Platform. With Eurordis, the European Organisation for Rare Diseases, Dr. Haffner discussed the collaboration of an ongoing study that compares the dynamics of orphan drug development between the US and Europe. Dr. Haffner is also scheduled to address the 4th Workshop of the Eurordis Round Table of Companies, whose theme is Common Drugs for Common Needs: the EU vs. US approach to Orphan Medicinal Product Development. The workshop will take place at the end of June in Barcelona. With Orphanet, amongst the topics broached was the OrphanXchange network, an Orphanet service designed to facilitate collaboration between academic research and the pharmaceutical industry. See the November 2005 issue of OrphaNews Europe to read an interview with Dr. Haffner.
    Other international news
    NIH launches nationwide rare diseases investigation
    The US National Institutes of Health, under its Rare Diseases Clinical Research Network (RDCRN), is launching over 20 studies across the US and in other countries, including Brazil, the UK and Japan. With US $71 million funding for a five-year period, RDCRN is coordinated by the Office of Rare Diseases and the National Center for Research Resources. Research initiatives will include interventional trials testing new treatments and longitudinal studies designed to gather information on the characteristics and progression of illnesses. Patient associations are actively participating in the network via the Coalition of Patient Advocacy Groups. The project is expected to enhance collaboration amongst researchers, as well as between patients and scientists, and help train the next generation of rare disease researchers.
    Canada faces reimbursement challenges for rare disease treatments
    A new government agreement will allow patients with Fabry disease access to expensive treatments via a post-marketing research study funded by federal and provincial Canadian governments and two drug developers. Although two drugs to treat the disease are licensed – Fabrazyme and Replagal – the staggering price (about $275,000 per year for Fabrazyme) makes them prohibitive to many of the estimated 200 Canadians afflicted with Fabry disease. The Canadian Expert Drug Advisory Committee did not recommend public health funding for either treatment, citing a lack of cost-effectiveness. Under the new agreement, patients must enrol in the research protocol to receive treatment. Canada does not currently have a national orphan drug plan.

    Meanwhile, the Canadian newspaper Globe and Mail reported on another rare disease patient unable to afford treatment. Parents of a two-year-old child with Maroteaux-Lamy syndrome are considering moving their family to England, where the over-$300,000 a year enzyme replacement therapy Naglazyme is reimbursed by national health insurance. The child already exhibits signs of the disease. It is hoped that starting treatment would at least halt the progression of the illness. The Ontario Health Minister is being petitioned to provide bridge funding until a national policy is instated, enabling the family to stay in Canada.


    Research in Action
    New diseases & syndromes
    New diseases and syndromes published on PubMed
    A novel hereditary small vessel disease of the brain
    Ann Neurol ; 353-357 ; February 2006
    An antibody-deficiency syndrome due to mutations in the CD19 gene
    New Eng J Med ; 1901-1912 ; 4 May 2006
    New genes
    New rare disease genes published on PubMed
    A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
    Nature Genetics ; 525-527 ; May 2006
    Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome
    Hum Mol Gen ; 1413-1422 ; 1 May 2006
    Novel JARID1C/SMCX mutations in patients with X-linked mental retardation
    Hum Mut ; 389 ; April 2006
    Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
    J Med Genet ; 385-393 ; May 2006
    Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
    Nat Gen ; 561-565 ; May 2006
    Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia
    J Med Genet ; 441-443 ; May 2006
    BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
    Nat Gen ; 521-524 ; May 2006
    X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
    Nat Gen ; 528-530 ; May 2006
    MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
    Nat Gen ; 570-575 ; May 2006
    A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function
    Nature ; 179-185 ; 11 May 2006
    Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure
    Euro J Endocrinol ; 739-744 ; May 2006
    New fundamental research
    New fundamental research published on PubMed
    Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression
    Nat Genet ; 531-539 ; May 2006
    In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate
    Ann Neurol ; Epub ahead of print ; 10 April 2006
    Nicotinamide protects against ethanol-induced apoptotic neurodegeneration in the developing mouse brain
    PLoS ; e101 ; April 2006
    New clinical research
    New clinical trials and research registered with Orphanet
    Non-invasive prenatal diagnostic assay for the detection of beta-thalassemi

    Open-label Trial of Glivec® (imatinib mesylate) in Patients with Dermatofibrosarcoma protuberans

    To register your interest in participating in a clinical trial visit Orphanet.

    Clinical research results published on PubMed
    Mutations responsible for Larsen syndrome cluster in the FLNB protein
    J Med Genet ; e24 ; May 2006
    Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
    J Med Genet ; 401-405 ; May 2006
    The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene
    J Med Genet ; 406-413 ; May 2006
    Expanding the phenotypic spectrum of L1CAM-associated disease
    Clin Genet ; 414-419 ; May 2006
    Novel congenital myasthenic syndromes associated with defects in quantal release
    Neurology ; 1223-1229 ; 25 April 2006
    Predictors of hemorrhage in patients with untreated brain arteriovenous malformation
    Neurology ; 1350-1355 ; 9 May 2006
    Intake of Polyunsaturated fatty acids and vitamin E reduce the risk of developing ALS
    J Neurol Neurosurg Psychiatry ; Epub ahead of print ; 28 April 2006
    Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy
    Hum Mol Gen ; 1623-1628 ; 15 May 2006
    Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
    Mol Genet Metab ; Epub ahead of print ; 25 April 2006

    Funding opportunities
    National calls for proposals
    Italy launches rare diseases call for proposals
    Within the framework of the Italy-USA agreement on rare diseases, the Italian Istituto Superiore di Sanità (ISS) has launched the 2nd national call for proposals on rare diseases. Projects will be funded by the Ministry of Health and will last two years (2006-2008).

    Proposals should fit the following topics:
  • models for prevention (primary, such as folic acid, secondary, etc.)
  • characterisation of rare diseases still lacking diagnosis (projects directly co-ordinated by the ISS)
  • development of new approaches (molecular, biochemical, etc.) for diagnosis and prognosis
  • experimental models to develop new therapies (preclinical phase) and to evaluate safety and efficacy
  • epidemiological and clinical research (incidence, prevalence, risk factors, guidelines, etc) using as starting point the data from the National Registry of Rare Diseases
  • models to evaluate quality of life, including accessibility to social-health services, of patients with rare diseases.


    Orphan Drugs
    New designations & authorisations in Europe
    COMP orphan drug designations in May 2006
    At its meeting on 15-16 May 2006, the European Medicines Agency's Committee for Orphan Medicinal Products (COMP) adopted 7 positive opinions on orphan designation for medicinal products for the following indications:

  • Diphenylcyclopropenone for treatment of alopecia universalis
  • Diphenylcyclopropenone for treatment of alopecia totalis
  • Human monoclonal antibody against Pseudomonas aeruginosa serotype O11 for treatment of pneumonia caused by serotype O11 Pseudomonas aeruginosa
  • Mecasermin rinfabate for treatment of primary insulin-like growth factor-1 deficiency due to molecular or genetic defects
  • Mecasermin rinfabate for treatment of patients with growth hormone (GH) gene deletion who have developed neutralizing antibodies to GH
  • Mecasermin for the treatment of primary insulin-like growth factor-1 deficiency due to molecular or genetic defects
  • Pazopanib hydrochloride for treatment of renal cell carcinoma
  • Siplizumab for treatment of T-cell and NK-cell neoplasms
  • EMEA COMP opinions in May 2006

    The Committee for Medicinal Products for Human Use (CHMP) has adopted a positive opinion on initial marketing authorisation application for Nexavar (sorafenib tosylate) manufactured by Bayer Healthcare AG for the treatment of advanced renal cell carcinoma in patients who have failed prior interferon-alpha or interleukin-2 based therapy or are considered unsuitable for such therapy. Nexavar is the twenty-sixth orphan medicinal product to receive a positive CHMP opinion.

    The CHMP also adopted the first positive opinion on the granting of a conditional marketing authorisation under new EU regulation that came into effect in April 2006. A conditional marketing authorisation means that further evidence on the medicinal product is awaited. Sutent (sunitinib malate), from Pfizer Ltd, received conditional marketing authorisation for the treatment of unresectable and/or metastatic malignant gastrointestinal stromal tumours (GIST) after failure of imatinib mesylate treatment due to resistance or intolerance, and advanced and/or metastatic renal cell carcinoma (MRCC) after failure of interferon alfa or interleukin-2 therapy. Sutent is the twenty-seventh orphan medicinal product to receive a positive CHMP opinion. In the case of Sutent, the product’s effect in terms of progression-free survival in patients with MRCC is under study. The EMEA will review new information within one year and update the product information as necessary.

    In late May, the CHMP adopted a positive opinion on initial marketing authorisation application for two orphan drug products: Savene (dexrazoxane), from TopoTarget A/S, is for the treatment of anthracycline extravasation (accidental leakage of intravenously administered chemotherapeutics into the surrounding tissue). Savene is the twenty-eighth orphan medicinal product to receive a positive CHMP opinion. The CHMP also adopted a positive opinion on initial marketing authorisation application for Thelin, (sitaxentan sodium), from Encysive (UK) Ltd, for the treatment of pulmonary arterial hypertension. Sitaxentan sodium is the twenty-ninth orphan medicinal product to receive a positive CHMP opinion.

    Details of all orphan designations and authorisations granted to date by the European Commission are entered in the Community Register of Orphan Medicinal Products

    New designations & authorisations in USA
    In March and April, the US Food and Drug Administration's Office of Orphan Products Development granted orphan drug designation for 26 medicinal products, including those with sponsors from France, Sweden, Spain, and Denmark. Details of the designations granted in March and April can be found here.

    In addition, the agency has granted marketing authorisation in the United States for NeoProfen (ibuprofen lysine) to treat patent ductus arteriosus, and Prograf (tacrolimus) to treat prophylaxis of organ rejection in patients receiving heart transplants.

    The FDA also approved a biologics license application for Myozyme (alglucosidase alfa, rhGAA) the first treatment for Pompe disese. Myozyme had received orphan drug designation and was approved under a priority review. In early May, the FDA approved Dacogen (decitabine) injection for the treatment of myelodysplastic syndromes (MDS). Dacogen, produced by Dutch subsidiary Pharmachemie BV Haarlem of US company MGI Pharma, recieved orphan drug status from the FDA.

    A full list of all US designations and marketing approvals can be found here.


    Ethical, Legal & Social Issues
    Haemophilia, developing countries, and emerging technologies
    An article in the journal Haemophilia, written by researchers from Cornell University in New York, looks at the special ethical issues surrounding haemophilia, especially in developing countries, where rare diseases often have to take a backseat due to more common disease prevalence and severe resource limitations. In view of advances made in both gene-based diagnosis and therapies, which carry their own ethical dilemmas, the authors posit the question of whether the haemophilia community should volunteer to become a model for a "much broader set of innovations".

    European Rare Disease Networks Update
    EU Clinigene project launched
    The European network for the advancement of clinical gene therapy transfer and therapy recently had its kick-off meeting. The network aims at integrating multidisciplinary research and development in gene therapy as well as mobilising all major stakeholders. The partners hope to soon share platform databases for particular vectors with respect to their safety and efficacy. Clinigene will collaborate with Orphanet to provide information on on-going clinical trials. OrphaNews Europe will carefully monitor the progress of this network so relevant to rare disease diagnosis and treatment.
    Orphanet goes to school
    Amongst Orphanet’s many goals is the desire to increase the understanding and awareness of rare diseases. To this end, a new French language online teaching service has debuted: OrphaSchool. Offering interactive courses on different aspects of rare diseases, such as prenatal diagnosis or the transmission of disease within the family, there are modules designed both for the general public and for health professionals. User-friendly, OrphaSchool presents many self-testing opportunities during the course of study, including an entrance evaluation and another test at the end of the course.
    Eurordis releases final report on EuroBioBank
    EuroBioBank is a European network of biobanks of DNA, cells and tissue for rare disease research, coordinated by Eurordis. The project’s final report to the European Commission was released last week. All objectives and deliverables of the project were achieved. The project involved 16 partners from 8 countries (Belgium, France, Germany, Hungary, Italy, Malta, Slovenia and Spain), with a budget of €1,200,000; 170,000 samples are now available in the network and 19,000 samples were distributed during the project. There are to date 41 publications that acknowledge EuroBioBank. The project will now continue with different sources of funding.

    News from the Patients Associations
    Bilingual website launched for Sanfilippo syndrome
    Alliance Sanfilippo, a non-profit organisation of parents dedicated to encouraging biomedical research and clinical trials for Sanfilippo disease (MP III), has announced the debut of its bilingual website. Founded in 2005, Alliance Sanfilippo seeks to keep families abreast of ongoing research efforts, treatment developments, and political initiatives designed to help patients and their families. To this end, a state-of-the-art white paper is being completed to survey existing literature, ongoing research, and other resources for MPS III worldwide. Other initiatives include the new Sanfilippo internet discussion forum via the European Organisation of Rare Diseases' (Eurordis) new Medicalistes programme.
    Read more about MP III. Read more about Alliance Sanfilippo.


    Press & Publications
    New books
    Infectious Diseases of the Fetus and the Newborn Infant 6th Edition
    Authors: Jack S. Remington, Jerome O. Klein, Carole Baker, Chrisopher B. Wilson -Eds.
    Publisher: WB Saunders Co., September 2005

    Medical Genetics
    Author: Ian D. Young
    Publisher: Oxford University Press, June 2005

    Genetic Testing: Care, Consent and Liability
    Authors: Neil F. Sharpe, Ronald F. Carter
    Publisher: Wiley-Liss, January 2006

    Press cuttings
    Do ultra-rare disorders merit special funding status?
    Authors from the University of Wales, writing in the November issue of medical journal QJM, query whether ultra-rare diseases need special EU regulation to promote the development of treatments, as well as special status that would diminish geographically-based inequities. In response, researchers from Sheffield, UK offer their considerations on the subject in the May issue of QJM.
    Two new journals aim to improve clinical trials communications
    The Public Library of Science (PloS), a non-profit organisation of scientists and physicians, has launched PloS Clinical Trials, a new open-access journal geared to broadening the scope of clinical trials reporting. Neither direction, size nor perceived importance of randomised trials will determine publication decisions in the review. Meanwhile, BioMed Central has launched Trials, also an open-access peer-reviewed journal that aims to make published protocols “freely available…and highly visible to trialists worldwide”. New and established randomised controlled trials in any healthcare area will be considered as well as manuscripts on any aspect of the design, performance, and findings of randomised controlled trials.

    What's on where?
    In June
    10th International Congress of Child Neurology
    Presenting novel and contemporary aspects of child neurology, including a global perspective on the significant burden of neurological disease in developing countries.

    Date: 11-16 June 2006
    Venue: Montreal, Canada

    9th International Symposium on mucopolysaccharide and related diseases
    "Together for a better life" will emphasise the importance of parent and scientist collaboration. Crossing of the blood-brain barrier will be highlighted.

    Date: 29 June-1 July 2006
    Venue: Venice-Lido, Italy

    4th International Cystinosis Conference
    Families and professionals meet to discuss the challenges of everyday life for people with cystinosis as well as new scientific developments in the field.

    Date: 30 June-2 July 2006
    Venue: Noordwijkerhout, The Netherlands

    In July
    XI international congress on neuromuscular diseases
    Bringing together clinical and basic science researchers in an international milieu.

    Date: 2-7 July 2006
    Venue: Istanbul Turkey

    4th European meeting on Elastin
    Several sessions focusing on elastin tissue disorders and treatments.

    Date: 9-12 July 2006
    Venue: Lyon, France

    10th International Fragile X Conference
    Hosted by the Fragile X Association of Georgia.

    Date: 13-23 July 2006
    Venue: Atlanta, Georgia, USA

    European Working Group of Gaucher Disease
    Providing an opportunity to learn about up-to-date reports on scientific discoveries and pharmaceutical initiatives and to discuss their relation to current practice.

    Date: 18-22 July 2006
    Venue: Cambridge, UK

    In August
    11th International Congress of Human Genetics
    Held every five years, the 11th International Congress of Human Genetics is organised on behalf of the International Federation of Human Genetics Societies, and will be hosted by the Human Genetics Society of Australasia.

    Date: 6-10 August 2006
    Venue: Brisbane, Australia

    2nd International Symposium on Disorders of Sex Development
    "From Gene to Gender". Including a lecture on the possibilities of research efforts for rare diseases within the proposed EU framework funding programmes.

    Date: 31 August-2 September 2006
    Venue: Lübeck, Germany

    In September
    2nd Eastern European Conference on Rare Diseases and Orphan Drugs
    Fostering research on rare diseases in eastern European countries.

    Date: 8-9 September 2006
    Venue: Plovdiv, Bulgaria

    Epigenetics and Neural Developmental Disorders
    Focussing on RTT, autism, Angelman syndrome and fragile X syndrome, amongst other neural developmental disorders.

    Date: 18-19 September 2006
    Venue: Washington DC, USA

    UK Heart Rhythm Congress
    A series of lectures and presentations, including scientific sessions, live cases, discussion and updates, as well as a trade exhibition.

    Date: 19-21 September 2006
    Venue: Birmingham, England

    12th International Conference on Behçet’s Disease
    Gathering together colleagues from specialities that range from basic research in immunology and genetics, to clinicians in rheumatology, ophthalmology, dermatology and internal medicine, and other fields.

    Date: 20-23 September 2006
    Venue: Lisbon, Portugal

    In October
    7th EPPOSI Workshop on Partnering for Rare Disease Therapy Development
    This important workshop will bring together representatives from key stakeholder groups – patients, regulators, charities, the academic and clinical community, industry and health care providers to discuss the issues involved in positioning rare diseases on the healthcare agenda. Besides the title topic, sessions on enabling the appropriate assessment of new therapies, evaluating the benefit of therapies for patients and their families, facilitating the development of orphan indications of marketed drugs, and ensuring patient access to optimal treatment will be featured.

    Date: 26-27 October, 2006
    Venue: Madrid Spain

    The 14th World Congress of the International Society of Psychiatric Genetics
    This congress will underline the relationship between psychiatric genetics and neurosciences, with the intent of attracting participation by both clinicians and basic researchers.

    Date: 28 October–1 November 2006
    Venue: Cagliari, Sardinia, Italy


    Orphanews Europe, the newsletter of the Rare Diseases Task Force
    Orphanews Europe is supported by the European Commission's DG SANCO
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Dr Ségolène Aymé
    Editor: Louise Taylor
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    Editorial Board: Ségolène Aymé, Aurélie Bedin, Catherine Berens, Helen Dolk, Anders Fasth, Edmund Jessop, Jordi Llinares-Garcia, Jérôme Parisse-Brassens, Helmut Popper, Elena Prats, John Ryan, Janos Sandor, Arrigo Schieppati, Rumen Stefanov, Domenica Taruscio, Joan Luis Vives Corrons
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