10 July 2006 print
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RDTF enjoys a productive 5th meeting
The Rare Diseases Task Force held its 5th meeting on 8 June in Luxembourg. The main issues discussed were the following:

The Commission is finalising the approval of a new programme for public health for 2007-2013. This programme was initially submitted as a joint programme on health and consumer protection but was rejected by the council and the parliament. The new programme has been split, allowing the programme for public health to be integrated into the new financial perspectives of the EU. In terms of content, the initial programme contained a strand specifically labelled ‘diseases’. Unfortunately, this proposal was rejected and the new programme contains three strands (Heath Security, Prosperity and Solidarity, and Generation of Knowledge in the EU), with no specific strand for diseases. The new programme will be approved by the council and parliament by the end of the year.

There are two major new priorities of relevance to the RDTF: Children’s health and health inequalities. Rare diseases are recognised in the new programme. The representation of rare diseases in the new programme is satisfactory. However, it is important to note that no specific disease is mentioned in the new text and all diseases are considered at the same level. In terms of funding, globally the new programme will receive more money than in the past but the three new agencies in the field of public health created in recent years will be supported and maintained by money from the programme. In practical terms, this means that the money available in the new programmes is reduced. For example, in 2005-2006 the money available for the public information strand of the old programme was around €15 million per year, for the new programme this will be €10 million or less. Existing projects will not be affected by these new funding decisions but their continuation will.

In terms of new projects, the number of submitted projects in the field of rare diseases has increased from 4-5 in previous years, to 14 this year. Selection will be completed by December 2006.

The budget for the FP7 has now been set at a little more than €50 billion (there was no doubling of the budget as originally proposed by the European Commission). However, the health theme of the collaborative research programme is less affected by budget cuts than other areas: €8.3 billion was requested, and just under €6 billion will be received. The details of this allocation and the text of the framework are still under discussion, however. The first reading will hopefully be adopted in June by the European Parliament and, once a consensus is reached and any amendments incorporated, the second reading should take place after the summer. Following this schedule, the process should be finished by the end of 2006, ready for the launch of the first call for proposals at the beginning of 2007.

Regarding rare diseases, there is no conclusion as yet ; the text is still being discussed. Rare diseases come under the second pillar of the Health theme in collaborative research: translating research for human health. Several rubrics cover various diseases, including a those on natural history studies, patho-physiology and development of preventive, diagnostic and therapeutic approaches. However there is some crossover between other rubrics included under the health theme. Other parts of the Health theme will of course be directly relevant to research on rare diseases, such as high-throughput research, or the development of innovative therapeutic approaches and interventions, including gene and cell therapies. Overall, the impact of FP7’s adopted budget will probably mainly relate to alterations in the number of rare disease projects funded rather than the orientation of the calls themselves. A clear picture of FP7 should be available at the next meeting in December.

FP6: evaluation of the fourth call for proposals is now complete and negotiations are now underway on the projects that have been selected. For rare diseases there are three new projects accepted under the rubric “Cardiovascular, diabetes and rare diseases” of the “major diseases” section.

Figures are not final but for projects on rare diseases under the rubric “cardiovascular diseases, diabetes and rare diseases”, we have around €46 million. If taken together, the budget available for projects relevant to rare diseases in the health priority amounts to more than €200 million (compared to €64 million in FP5). Programmes relating to the coordination of rare disease issues at EU level, such as the Orphanplatform project, have also received attention in FP6. This will continue in FP7. In contrast, funding of clinical trials is not well covered and this needs to be taken into consideration for the next programme.

Regarding the inventory of national initiatives in the field of rare diseases and orphan drugs, data collection was completed in 2005 by the secretariat of the Rare Diseases Task Force. The validation process by DG Enterprise is underway. It should be published soon on the commission’s website.

Improving OrphaNews Europe based on suggestions received from the recent readers’ survey was one of the topics open for an exchange of views. It was decided to add a section on diagnostic tools, one on news from companies involved in orphan drugs and medical devices for rare diseases, and one section on job opportunities. The research news section will be expanded.

The RDTF Working Group on coding and classification will have its first meeting in Luxembourg on 11 October 06. The Working Group on health indicators will meet for the second time in January 07. The Working Group on standards of care will meet on 1 September in Paris. The RDTF is preparing a new report on the issue of European Centres of Reference to be provided the High Level Group on health services and medical care. Publication is expected for the end of September 06.

  • The next meeting of the RDTF will be held in Luxembourg on 14 December 2006.


    Spotlight on...
    Assisted reproduction and genetics…a need for guidelines
    Two areas of medicine developing faster than legislation can keep up with them are the varied technologies of assisted reproduction (ART) and genetics. These two areas have become more intertwined as advances in technology permit more sophisticated genetic analysis at the pre-implantation stage of assisted reproduction and researchers are learning more about genetic causes of infertility. As with other emerging fields, such as stem cell research, ART across the globe is subject to a panoply of rules and regulations and often lacks any sort of cohesive guidelines. Thus a patient’s access to assisted reproduction and the conditions under which a procedure may take place can be a virtual roll of the dice determined by geography. Where a patient lives determines their eligibility for assisted reproduction, as well as issues concerning payment and reimbursement, test and screening availability and practise, and other controversial issues such as gender selection. Other determinants of ART availability in Europe include a woman’s age, marital status, and sexual orientation. A survey of recent news stories illustrates the vast array of difficult medical, ethical and legal issues facing ART despite the happy accomplishment of the millions of babies that have been born via assisted reproduction to couples who might otherwise have remained childless or been faced with the often arduous process of adoption. For example, a recent news item describes a case in the UK where the employment of an embryo frozen sixteen years earlier has produced a “twin” sixteen years younger than her sibling. Another article published in the Journal of Pediatrics describes a sperm donor who transmitted severe congenital neutropenia - a disease too rare to be included in standard genetic testing - to five children born to four different mothers in the United States. Back in Europe, many couples are obliged to travel to Belgium in order to receive preimplantation genetic diagnosis (PGD) for conditions – often rare disorders - not currently included amongst those allowed in their country. In response to this somewhat chaotic state of affairs, the European Societies of Human Genetics and Human Reproduction and Embryology have developed a set of recommendations laid out in a recently-published article in the European Journal of Human Genetics.

    These recommendations encompass the areas of reproductive confidence, standard practises, donor selection, PGD, research and development, and service organisation. If adopted, these guidelines would provide a much needed standardisation of procedures across Europe, respecting both the emerging technologies and the desires of infertile patients, resulting in safer, more equitable ART practises in Europe that may eventually spread to other parts of the world. Many developing countries, it must be remembered, are grappling over whether to allow ART procedures at all. Others are becoming subject to a sort of “patient tourism” similar to the plastic surgery industry, where patients go for lower prices, more lenient regulations – and often inferior technology and procedures. Ironically, the majority of citizens in such countries are excluded from ART based on cost alone. Kenya is one such example. Offering IVF for US $4300 in a country where the average per capita income is US $360 is just one of many ethical issues facing ART. In Kenya, as in other countries around the world, the church is persuasive in opposing the technology. Local proponents, conversely, argue that infertility is a hardship for women, particularly in rural areas, where women are blamed for the condition and often divorced and ostracised as a result.

    The adoption of the guidelines set forth by the ESHG and ESHRE, which would help regulate eligibility criteria, donor selection and protection, genetic diagnostic practises, and service quality control, amongst other issues, could thus set a standard for safe and sane practices to be adopted in Europe which might serve as an eventual model for adequate regulation for other parts of the world.


    EU Policy News
    Parliament reaches agreement on children’s medicine regulation
    The European Parliament has voted to endorse measures designed to improve research, development, and authorisation processes for paediatric medicinal usage, impacting both existing medicines and newly developed products. To date, children are often obliged to take smaller doses of medications that were created for and tested exclusively on adults. Some of these products have different or potentially more severe side-effects on children. The new regulation, due to come into effect in January 2007, is geared toward increasing the development of medicines for use in children, ensuring that such products are subject to high quality research and appropriately authorised for paediatric use, as well as improving the information available on the use of medicines in children.

    The new measure will require pharmaceutical companies to present trial results involving children at the time of authorisation. Support measures proposed include EU funding for off-patent medicine studies for children; the creation of an expert committee within the EMEA with a system of free scientific advice for industry players; augmented pharmacovigilance for paediatric medicinal products; an inventory of therapeutic needs in the areas of research, development, and authorisation; and a publicly accessible database of paediatric studies. The European Council is expected to formally endorse the measures soon. The European Federation of Pharmaceutical Industries and Associations has responded favourably to the EP vote.

    EU and US agree to guidelines for genomic data submission
    The European Commission, European Medicines Agency and the US Food and Drug Administration have agreed to a set of procedures for joint briefing meetings following voluntary submission of genomic data. Although much pharmacogenomic data are exploratory and thus not obliged to comply to health authority submission, voluntary submission is encouraged to allow authorities to keep up to date with issues and, conversely, for industry to be kept abreast of regulatory perspectives on integrating pharmacogenomics in drug development. Working within the scope of existing EC/EMEA/FDA confidentiality arrangements, the procedures are based upon prior joint briefings, and submissions will be reviewed by the FDA’s Interdisciplinary Pharmacogenomic Review Group and the EMEA Pharmacogenetics Working Party.
    EU court rules in favour of patient in cross-border reimbursement case
    The European Court of Justice ruled in favour of reimbursement for an English patient who went to France for a medical procedure available free of charge in the United Kingdom. In order for the UK National Health Service to legitimately refuse reimbursement, it must demonstrate that the waiting time for the procedure does not exceed a “medically acceptable period”. Following deterioration in the condition of health of the patient, an application for judicial review with the High Court of Justice of the European Communities was lodged as the patient sought reimbursement for treatment obtained abroad.
    DG Research
    International Clinical Trials Day a productive event
    The 19 May International Clinical Trials Day, hosted by the European Commission’s Directorate General of Research, broached some important issues this year, including increasing transparency, open-access trial registration possibilities, the patient in evidence-based medicine, public-private partnerships in developing countries, and public funding for non-industry clinical trials. European rare diseases networks Orphanet and Eurordis were presented, drawing attention to existing resources for orphan drug development and the need for expanded awareness, support and funding.
    Committee for Orphan Medicinal Products welcomes new leaders
    During the sixty-ninth meeting of the Committee for Orphan Medicinal Products (COMP) on 14-15 June 2006, the members of the Committee elected the new Chairperson and the Vice-Chairperson for a term of three years each. Dr Kerstin Westermark (Sweden) was elected unanimously as Chairperson, and Mrs. Birthe Byskov Holm (Patient Representative nominated by the European Commission) was elected unanimously as Vice-Chairperson. OrphaNews Europe welcomes the COMP's first woman Chairperson and congratulates both the Chair- and Vice-Chairpersons.

    National & International Policy Developments
    Other European news
    Italian Medicines Agency funds orphan drug projects
    Under an innovative scheme that requires Italian pharmaceutical companies to donate 5% of their promotional expenditure to an independent research fund, some 30 independent research protocols in the area of rare diseases and orphan drugs have been selected for funding by the Agenxia Italiana de Farmaco (AIFA). The projects are divided into four general areas: improving knowledge of efficacy and safety of orphan drugs; improving knowledge of efficacy and safety of non-authorised/marketed orphan drugs; phase II studies on expired patent drugs where new indications are assumed; and genetic/cellular therapy studies. Criteria considered in selecting projects included foremost the consistency between the project proposal and the scientific question and the capacity of the project to produce results, the severity of the disease(s), absence of effective treatment, and economic burden to the national health system were also considered. The initiative is unique in Europe, aside from France, which has a similar rare disease funding scheme based on a call for proposals.
    Workshop on rare diseases held in Brussels
    The Austrian government sponsored a half-day workshop on rare disorders with particular emphasis on lysosomal storage diseases in Brussels on 31 May. The goal of the workshop was to promote the exchange of ideas among physicians, scientists, patient organisation groups and politicians. The workshop considered important therapeutic protocols that have been recently developed in the area of lysosomal storage diseases and examined the need for international collaboration between researchers and clinical centres, particularly in the areas of epidemiology, natural history and genotype-phenotype correlations, early diagnosis and biomarkers, and quality control of biochemical and genetic diagnosis. Considerations of medication and healthcare were also explored. For further information contact Prof. Dr E Paschke or Prof. Dr O Bodamer.
    Portugal holds first national conference on rare diseases
    On 23-24 May, Raríssimas, the Portuguese National Association for Mental and Rare Diseases, undertook what is considered by its Board as its most ambitious project in promoting rare diseases within the scientific community – a meeting hosted by a patient organisation and geared toward health professionals and students. The 1st Meeting on Rare Diseases - “Rare diseases from A to Z” - involved approximately 60 health professionals from several medical and laboratory specialities that work with rare diseases. Also included were political representatives from the Ministry of Health, the Directorate-General of Health, and the Colleges of the Portuguese Medical Association. Orphanet Portugal was one of the partners that actively participated in the elaboration of the scientific programme and the public promotion of the meeting. The morning sessions addressed political and social issues of interest to patients affected by rare diseases whereas the afternoons were dedicated to multidisciplinary scientific presentations and discussions concerning the main groups of rare diseases. The principle goals of the event were accomplished, namely: (1) improving patient referrals and stimulating the multidisciplinary cooperation of technicians; (2) reducing patient anxiety regarding timely diagnosis and/or possible treatments; (3) encouraging the National Health Authorities to include rare diseases in the National Health Plan 2004-2010; (4) discussing the difficulties involved in access to and financial reimbursement of Orphan drugs; (5) convening a diverse set of technicians to discuss the most prevalent rare diseases in the scope of the association; and (6) promoting the articulation and cooperation between the organisms and institutions involved in this area.

    Political involvement was of extreme importance to both patients and professionals as it unveiled some actions that are to be developed in this area. The Directorate-General of Health reported that it is currently involved in the organisation of the European Congress of Rare Disease 2007, organised by EURORDIS, to take place in November/December 2007 in Lisbon, during the Portuguese Presidency of the European Community. There is a great deal of enthusiasm and high expectations surrounding this meeting. Overall, the conference made a great contribution to further increasing the sense of community and cooperation in the field of rare diseases - a concept that in Portugal is still lagging behind the rest of the European Union. Further conferences are to be expected.

    Review of commissioning for rare condition services published in UK
    An independent review of specialised services for patients with rare conditions, requested by the UK Department of Health, was released in May 2006. In addition to a presentation of existing resources within the context of the new National Health Services framework and the manner in which specialised services are currently commissioned, the comprehensive report puts forward recommendations geared to complement and build upon existing procedures. The proposals seek to involve patients and care-givers in the planning and commission of specialised services. The Commissioning Framework, due to be published this summer, will take forward the recommendations proposed.
    Rare breathing disorder gets long-term funding in UK
    Children born with long segment tracheal stenosis now have a new service of designated experts, launched recently at the Great Ormond Street Hospital (GOSH) in the UK, due to long-term funding from the government agency NSCAG. As the surgery to correct the disorder is considered very difficult, results have historically been poor, with surgeons lacking specific expertise on the rare condition called upon to perform surgery for the disorder perhaps only once or twice in their career. The tracheal team at GOSH is considered a world-leader in the field with a concentration of multidisciplinary expertise.
    Dutch patients discouraged from stem cell treatment
    According to a report published in the BMJ, the Dutch Health Care Inspectorate has issued a warning against stem cell treatment offered in two private clinics, citing “no scientific proof” to the clinics’ claims of successful outcomes. The treatment is not illegal in the Netherlands. The Dutch Association for Neurology has lodged complaints against the clinics, seeking to refute the growing global impression that Dutch neurologists are widely using stem cell treatment for nervous system disorders, including amyotrophic lateral sclerosis. A medical director for one of the clinics says he has treated 120 patients, half with multiple sclerosis, in the past year, some 80% of whom have had “a proved significant clinical benefit” from the approximately €18 000 treatment.
    Other international news
    NIH expands rare disease research initiative
    The US National Institutes of Health has allocated almost US$4 million for 19 “bench-to-bedside” research projects, including categories funded by the Office of Rare Diseases. Project teams, consisting of NIH institutes and collaborators from industry, health care organisations, and academia, receive up to $200,000 over two years. Eight teams focusing on rare diseases received funding. Information on specific rare disease projects is available at the NIH website.
    US researchers develop technology for studying developmental anomalies
    Collaborators at the Universities of Texas and Utah have created a new tool, Virtual Histology, a rapid high-resolution 3D mouse embryo visualisation technique that permits researchers to better study developmental anomalies, including childhood cancers. The investigation of genetically modified embryos and their birth defects has to date been a slow and laborious process, but Virtual Histology makes analysis much faster and more accurate. Details of the invention are published in the journal PloS Genetics.
    NIH researchers diagnose rare lymphoma via gene expression profiling
    Results of a recent study demonstrate that using gene expression profiling, a molecular technique that analyses many genes simultaneously, researchers have been able to accurately distinguish Burkitt’s lymphoma from diffuse large B-cell lymphoma. The distinction is important as treatments for the two ailments differ. The researchers, several of whom are with the National Cancer Institute, part of the US National Institutes of Health, have published their findings in the New England Journal of Medicine.
    US introduces proposition to make publicly funded research freely available
    A bill recently introduced to US Congress would oblige every federal agency with a budget over $100 million to install a policy requiring any articles resulting from research funded by the agency to be made freely available within six months of publication. The Federal Research Public Access Act would require publicly-funded research articles to be archived in a digital repository that allows free public access. The bill reflects a growing interest on the part of policy makers and the public for access to research results. Meanwhile, a growing lobby of scientific publishers oppose the measure.
    Study finds for-profit funding can bias clinical trial outcomes
    A new study has revealed that clinical trials funded by industry and other for-profit groups were more likely to report positive findings than were similar trials conducted by non-profit entities. The study, reported by researchers at Harvard Medical School, was published in JAMA last month.

    Research in Action
    Ultra-rare disease receives EU grant for research programme
    Researchers at Kiel University in Germany are leading a team of European scientists in a research project dubbed HUE-MAN that has received some €2.4 million to study the rare hereditary disease alpha-mannosidosis. Only 1 in 100,000 persons – about 400 total in Europe – are estimated to suffer from the disorder that currently employs high-risk bone marrow transplant as treatment. The HUE-MAN project builds on another recently-completed EU funded study of the same disease. Researchers from Germany, Belgium, Norway, the UK, France, and the Czech Republic are participating in HUE-MAN, along with a Danish pharmaceutical company. The project is funded under the EU’s Sixth Framework Programme (contract LSHM-CT-2006-018692). .
    New diseases & syndromes
    New diseases & syndromes published on PubMed
    Cathepsin D deficiency is associated with a human neurodegenerative disorder

    Steinfeld and colleagues have reported a novel disorder in a child with early blindness and progressive psychomotor disability. It is caused by two missense mutations in the CTSD gene coding for cathepsin D, a ubiquitously expressed lysosomal protease that is involved in proteolytic degradation, cell invasion and apoptosis. CTSD observed variations cause markedly reduced proteolytic activity and a diminished amount of cathepsin D in patient fibroblasts.

    Am J Hum Genet ; 988-998 ; June 2006
    A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia

    A new complex disease characterised by developmental midline malformations, sensory hearing loss and delayed-onset generalized dystonia syndrome, has been described in monozygotic twins. It is caused by a missense point mutation in the gene coding a nonmuscular actin isoform: beta actin.

    Am J Hum Genet ; 947-960 ; June 2006
    Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy

    Ferdinandusse and colleagues have reported a patient with torticollis and dystonic head tremor, slight cerebellar ataxia, nystagmus, hyposmia and azoospermia. Magnetic resonance imaging showed leukencephalopathy and involvement of the thalamus and pons. This phenotype is due to a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. A homozygous mutation of the coding gene is involved.

    Am J Hum Genet ; 1046-1052 ; June 2006
    New genes
    New rare disease genes published on PubMed
    Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes
    Am J Hum Genet ; 1066-1074 ; June 2006
    KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
    Eur J Hum Genet ; 824-830 ; July 2006
    Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome
    Am J Hum Genet ; 1075-1080 ; June 2006
    New fundamental research
    New fundamental research published in PubMed
    Intrathecal administration of AAV vectors for the treatment of lysosomal storage in the brains of MPS I mice

    Gene Ther ; 917-925 ; June 2006
    Rescue of functional delF508-CFTR channels in cystic fibrosis epithelial cells by the alpha-glucosidase inhibitor miglustat

    FEBS Lett ; 2081-2086 ; April 2006
    New clinical research
    New clinical trials and research registered with Orphanet
    Enzastaurin Versus Lomustine in Glioblastoma

    Genotype phenotype study of mutations in the Wnt7a gene causing FFU syndrome and Schinzel Phocomelia (Fuhrmann syndrome, Limb pelvis hypoplasia-aplasia syndrome, Al-Awadi-Raas-Rothchild syndrome)

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

    Clinical research results published on PubMed
    The spectrum of WRN mutations in Werner syndrome patients
    Hum Mutat ; 558-567 ; June 2006
    The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
    Hum Mutat ; 453-459 ; May 2006
    Expanding the clinical spectrum of POMT1 phenotype
    Neurology ; 1564-1567 ; 23 May 2006
    The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males
    Am J Hum Genet ; 999-1010 ; June 2006
    Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy
    Neuromuscul Disord. ; 256-61 ; April 2006
    A novel cell immunoassay to measure survival of motor neurons protein in blood cells
    BMC Neurol ; 6 ; February 2006
    Revised diagnostic criteria for neuromyelitis optica
    Neurology ; 1485-1489 ; 23 May 2006
    EPI-hNE4, a proteolysis-resistant inhibitor of human neutrophil elastase and potential anti-inflammatory drug for treating cystic fibrosis
    J Pharmacol Exp Ther ; Epub ahead of print ; 20 April 2006
    New databases
    Database for rare metabolic disorders
    RAMEDISis a platform-independent web-based information system for rare metabolic diseases based on collected individual case reports. To date, over 700 such case reports involving over 90 different metabolic diseases have been published on the site by physicians, biochemists and scientists. RAMEDIS permits researchers to extract diverse standardized data types, including clinical, biochemical, and molecular. Read more about RAMEDIS in the journal Applied Bioinformatics.
    Diagnostic mutation database forms steering committee
    The Diagnostic Mutations Database, launched by the National Genetics Reference Laboratory in Manchester, England in early 2005 and now in the final stage of development, provides a vehicle for sharing mutation data and publishing mutations from diagnostics laboratories. The database will serve as a repository allowing easy submission of confidentiality-protected data. The recently-formed committee will develop guidelines designed to ensure both confidence and accountability. The database will also allow geneticists to seek out disease patterns. The need for sharing mutation data is becoming internationally recognised. Pilot testing underway is using data for neurofibromatosis 1 and 2 as well as cystic fibrosis.
    Biological databases to get infrastructure
    Funded by the European Union, a unique electronic infrastructure project has gotten underway. FELICS, the Free European Life-science Information and Computational Services will provide researchers with unrestricted access to several major international biological databases. The €16.7 million project, funded under the EU’s Sixth Framework Platform’s Reseach Infrastuctures action, is being launched by the European Bioinformatics Institute, the Swiss Institute for Bioinformatics, the University of Cologne and the European Patent Office. The funding is the largest ever EU award for computational infrastructures supporting biological research. According to a recent press release, FELICS is conservatively estimated to receive 10 million hits daily within the next five years.

    Orphan Drugs
    New designations & authorisations in Europe
    COMP orphan drug designations in June 2006
    At its meeting on 14-15 June 2006, the European Medicines Agency's Committee for Orphan Medicinal Products (COMP) adopted 6 positive opinions on orphan designation for medicinal products for the following indications:

  • 4-[123I] iodo-L-phenylalanine for diagnosis of glioma
  • 2-(4-(diethylamino) phenyl)-6-methyl-2H-benzo[d][1,2,3] triazol-5-amine for treatment of Duchenne muscular dystrophy
  • Amikacin sulfate (liposomal) for treatment of Pseudomonas aeruginosa lung infection in cystic fibrosis
  • Lestaurtinib for treatment of acute myeloid leukaemia
  • Human telomerase reverse transcriptase peptide (611-626) for treatment of pancreatic cancer
  • Becatecarin for treatment of cancers of the biliary tree
  • EMEA COMP opinions in June 2006

    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
    The US Food and Drug Administration has granted orphan drug status to CellCept (mycophenolate mofetil), produced by Roche and Aspreva Pharmaceuticals, for the treatment of pemphigus vulgaris. A Phase III clinical trial involving 77 subjects is currently underway for treating the disorder, and is due to finish in 2007.

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


    Ethical, Legal & Social Issues
    Stem cell briefing paper published
    The UK-based Cambridge Genetics Knowledge Park has released a second edition of a briefing paper entitled Ethical, legal and social issues in stem cell research and therapy. The paper updates last year’s edition with new developments in the field.
    More considerations on paediatric medicines
    A recent article published in the Journal of Medical Ethics calls into query the practise of testing medicinal products on adults before children. The authors, who are working toward the first ever gene therapy trial to be conducted on children with cystic fibrosis, cite the fact that testing the therapy on adults could be misleading as the mucus present in adult lungs could act as a barrier to prevent the gene from entering. Further, inflammation is usually more serious in adults. Thus, conclude the authors, tests in adults may not reveal how effective a treatment would be in children. The article coincides with a decision taken by the European Parliament to endorse measures designed to improve research, development, and authorisation processes for paediatric medicinal usage.
    Trials in developing countries called into question
    An article in the popular technology magazine Wired explores the practise of conducting clinical trials in developing countries. Citing various factors, including lack of expertise and resources in many parts of the world, the article calls into question the financial incentives for trial participation that are often too tempting for impoverished patients to resist. Additionally, lack of education can make patients accept a doctor’s advice without question, thus weakening the notion of informed consent.

    European Rare Disease Networks Update
    Orphanet activities presented to Bulgarian physicians
    The 7th National Conference of Paediatricians and General Practitioners, held from 24-27 May in Slantchev Briag, Bulgaria and moderated by leading Bulgarian professionals, provided a venue to explore the various activities of Orphanet. The conference included sessions dedicated to significant health pathologies of childhood. A "clinical genetics section" was moderated by Prof. E. Simeonov, head of the department of clinical genetics of the Medical Faculty of Sofia. The Bulgarian physicians were warmly encouraged to register their activities and to share their expertise with the European Orphanet community.
    EuOrphan meeting in Pavia
    A symposium on Rare Diseases and Orphan Drugs was held on 9 June at the University of Pavia in Italy. The meeting was organised by EuOrphan, a service for the support of the European orphan medicine market, and UNIAMO, the Italian Federation of rare diseases. EuOrphan is a web service developed with EC support (e-TEN, DG Information Society), providing a consultancy service specifically targeted to pharmaceutical companies defining their business plans for the development of new orphan medicinal products managed by a team of qualified experts. The EuOrphan project has established an orphan drug database with statistics and information on orphan drug availability in 5 countries in Europe. Orphanet presented its own specific service designed to support the rare disease community in retrieving useful information concerning development of orphan drugs. Indeed, Orphanet is the European registry of clinical trials in the field of rare diseases and follows clinical developments of designated orphan drugs. The two databases provide complementary services to better serve patients, physicians and pharmaceutical companies.

    Press & Publications
    New books
    Principles and Practice of Pediatric Endocrinology
    Authors: Michael S. Kappy, David B. Allen, Mitchell E. Geffner, eds.
    Publisher: Charles Thomas, 2005

    Pediatric Neuroimaging 4th Edition
    Authors: A. James, M.D. Barkovich
    Publisher: Lippincott Williams and Wilkins, 2005

    Pediatric Neuroradiology
    Author: Paolo Tortori-Donati, ed.
    Publisher: Springer, 2005

    Making Medical Decisions for the Profoundly Mentally Disabled
    Author: Norman L. Cantor
    Publisher: MIT Press, 2005

    Innovation in Pharmaceutical Biotechnology
    Publisher: OECD Publishing, 2006
    Press cuttings
    Article examines lessons learned from rare disease and orphan drug situation
    The Journal of Internal Medicine has published an article entitled, A journey of hope: lessons learned from studies on rare diseases and orphan drugs, taking the pulse of the rare disease and orphan drug situations to date. The importance of cooperation between academic institutions, pharmaceutical companies, patient advocacy groups and society in the elucidation of rare diseases are emphasised.
    The dangers of false-positives in neonatal screening discussed
    An article published in Pediatrics medical journal warns against the increased instance of false-positive results in response to expanded newborn screening for biochemical genetic disorders, and the impact such results can have on parents. A survey of parents with false-positive screening results found parents tested significantly higher on a stress index. The survey also found that only one-third of parents understood the correct reason for repeat screening.
    Open-access journal articles cited more often
    A new study has determined that scientific papers published in open-access online journals are more frequently cited and have a bigger impact than articles that readers must pay to access. The study, published in PloS Biology monitored citations for some 1500 papers. The article concluded that open-access may facilitate scientific innovation by accelerating both dissemination and the uptake of results from published research. The recently established Orphanet Journal of Rare Diseases is confirming this hypothesis, with all of its first 20 articles accessed over 500 times within a two-month period; two of which are already being flagged as highly-accessed articles.

    What's on where?
    In July
    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
    International Liver Conference
    International conference on Primary Sclerosing Cholangitis (PSC) and other rare liver illnesses.

    Date: 1 September 2006
    Venue: Queen Mary & Westfield College, London UK

    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

    17th European Meeting on Dysmorphology
    With sessions on MCA/MR syndromes, foetal pathology, new chromosomal microdeletion/duplication syndromes and dysmorphology and sense organ anomalies.

    Date: 14-15 September 2006
    Venue: Strasbourg, France

    6th Meeting of the International Society for Neonatal Screening
    Including workshops on lysosomal storage disorders such as Wilson disease, new techniques for neonatal screening, and a comparison of screening policies in various countries.

    Date: 16-19 September 2006
    Venue: Awaji, Hyogo & Tokushima, Japan

    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
    12th Meeting of the European Society for Immunodeficiencies
    Main topics include deficiencies of innate immunity, complement deficiencies, T- and B-cell deficiencies, deficiencies of immunoregulations, immunoglobulin substitution, cytokine therapy and gene therapy.

    Date: 4-7 October
    Venue: Budapest, Hungary

    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

    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


    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)
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    Editor: Louise Taylor
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