28 June 2007 print
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EC workshop takes stock of future rare disease research needs
A workshop dedicated to the future research needs of the Rare Diseases Community took place on 14 June at the Directorate General (DG) Research headquarters in Brussels. Participants consisted of Sixth Framework Programme (FP6) project leaders in the field and representatives of various EU services. An analysis of past achievements revealed that the previous programme had proved efficient in mobilising top researchers, tackling fragmentation and contributing to the dialogue between all the stakeholders, including patients. ERA-NET project E-Rare was presented as a successful example of integrating Member State resources for the benefit of all. However, despite these achievements, there is plenty of room for improvement. Amongst the items most discussed was the sustainability of shared resource platforms. The EC representatives made it very clear that there was no mechanism in place to continue funding databases and databanks. The need for a support for the early clinical development of therapeutic products was also discussed at length and appears to have been well received. Participants suggested that the next Call for Proposals should continue funding projects on the natural course and pathophysiology of Rare Diseases, but in areas other than those covered by the first call. The next call will open in 2008. Participants were very satisfied to see that several of the Directorate Generals (DG Research, DG Public Health and DG Enterprise) and the EMEA were making a concerted effort to coordinate their actions. Finally, DG Public Health announced that certain FP6 and FP7 project leaders will be invited to join the Rare Diseases Task Force.

Spotlight on...
Brains for Brain
A European Task Force on Brain and Neurodegenerative Lysosomal Storage Diseases

Considering the relatively rare nature of lysosomal storage diseases (LSDs), a project aimed at restorative therapy for these disorders proves an ideal candidate for a European-wide research effort. Indeed, in each individual country, the medical and scientific resources available and devoted to the research and treatment of these diseases is by necessity limited and existing clinical centres typically each care for just a small number of patients. Thus, pooling skills, expertise, manpower and patients to form a critical mass of researchers and laboratories is essential for progress to go forward. This is the rationale that led to the creation of European Task Force Brains for Brain (B4B).

The B4B consortium was established following the ninth International Symposium on Mucopolysaccharide and Related Disorders, held in Venice, Italy in June 2006, where for the first time a specific blood-brain barrier workshop in the context of lysosomal storage diseases was held. This workshop sharply emphasised the importance of contact between basic scientists and clinicians in order to progress toward a better understanding of the pathogenesis and the optimisation of cures and treatments for LSDs.

The B4B task force takes advantage of the expertise of leading European scientists in basic and applied neurotechnology and neurology, working together to create a powerful coordinated effort toward the comprehension of the pathophysiology processes of neurological disorders in LSDs, the implementation of knowledge of the blood-brain barrier, and the development of new molecular and/or biochemical strategies to overcome this barrier, and the exploitation of brain plasticity and regeneration in order to treat these CNS diseases.

B4B held its first workshop in Madrid in March of this year. Sponsored by four pharmaceutical companies, (Actelion, Biomarin, Genzyme and Shire-Human Genetic Therapies) the workshop addressed the current problems of treating lysosomal storage diseases, and was attended by some forty European scientists and clinicians, either experts in lysosomal storage disorders or the blood-brain barrier. Countries represented included France, Germany, Greece, Italy, Spain, the Netherlands, the United Kingdom and Israel. Also attending were a number of experts in lysosomal storage diseases from North and South America serving as advisors, and representatives of global pharmaceutical companies currently manufacturing therapies and dedicated to the treatment of these diseases.

The unanimous resolution from this meeting was the decision to apply for EU Seventh Framework Programme (FP7) funding to enable a coordinated collaborative European research effort to proceed. The collaboration of European experts in lysosomal storage diseases and the blood-brain barrier offers a unique opportunity to combine expertise to expand research. It was universally acknowledged that the only way to achieve success in this area is to form this consortium with the support of the relevant pharmaceutical companies operating within the FP7. A number of family and patient organisations dedicated to lysosomal storage disorders in Member Countries throughout Europe are currently organising European-wide support for this new consortium. For more information, contact founding members Maurizio Scarpa or David Begley.

EU Policy News
Advanced therapies regulation approved by Council of Ministers
Following approval by the European Parliament on 25 April, the EU Regulation on Advanced Therapies has gone on to receive approval by the Council of Ministers. The regulation next needs to be formally adopted, signed and published. The legislation, despite unleashing a tough battle on ethical issues, offers new hope to thousands of patients and researchers. The innovative therapies impacted by the measure have a huge potential for curing illnesses, including many rare diseases, and are also expected to provide a significant boost for the European economy. The new regulation will not contradict individual Member State decisions, such as those concerning the use of specific types of cells.
DG SANCO updates rare diseases section
The latest updates to the European Commission DG Health and Consumer Protection (DG SANCO) rare diseases electronic section concern the latest news on the Regulation on advanced therapy medicinal products as well as updates in the National Public Health Initiatives section concerning individual Member state efforts.
DG Research
CORDIS FP7 goes multilingual
As part of a general effort to enhance information availability – and particularly to improve access to funding – the European Union’s Community Research & Development Information Service (CORDIS) is now publishing key online pages of its Seventh Framework Programme in six different languages: English, French, German, Italian, Polish and Spanish. With both the homepage and individual programme pages such as “Understand FP7”, “Participate in FP7” and the “FP7 newsroom” accessible in the six languages, CORDIS anticipates that the new pages will help research candidates interested in participating in EU-funded research.
New EMEA database tools improve communication and coordination
In an effort to facilitate the exchange of information concerning compliance with good manufacturing practice (GMP), the European Medicines Agency (EMEA) has created EudraGMP, a database containing manufacturing and importation authorisation information for EU Member states as well as Iceland, Liechtenstein and Norway. The database will improve the ability of national competent authorities to supervise the quality of medicines and is expected to increase efficiency by eliminating work duplication and enhancing the sharing of information and coordination of action. Some 15,000 importers and manufacturers are concerned by the effort and the EMEA estimates that data from up to 7,000 new GMP certificates will be included each year. The EMEA has also implemented a second version of the EudraPharm database of information on medicinal products approved within the European Union. The revised database furnishes product information documents in all available EU languages, features an advanced search function to make information searches more accurate and includes a new site map to improve navigation. EudraPharm is a long-term project being funded by the European Commission and implemented by the EMEA in close cooperation with the medicine agencies of each EU Member State.

National & International Policy Developments
Spanish Pharmaceutical body proposes rare disease initiative
On 7 May, the Spanish National Association of the Pharmaceutical Industry, Farmaindustria, announced its request to the Government to create a “Strategic Initiative for Rare Diseases”. The pharmaceutical industry group is willing to assume an economic effort of 300 million euros between 2007 and 2012 to fund research in the field of rare diseases. If the plan is accepted, Farmaindustria will create the “Organización Española para las Enfermedades Raras” (OEER), an organisation for rare diseases to administer the budget that could include public and private funds. In exchange for this investment, Farmaindustria is requesting the government pursue a favourable regulatory environment regarding industrial property in order to eliminate the Spanish differential protection of pharmaceutical patents, which currently allows for commercialization of generic drugs earlier than in other European countries. The government has not yet considered this proposal for the extension of the patents.
Switzerland adopts legislation regulating human genetic analysis
New Swiss federal law regulating human genetic analysis in the domains of medicine, work and assurance came into effect in April of this year, with the goals of assuring quality, preserving human dignity and avoiding possible abuses. A Commission composed of 12 experts from fields including genetic medicine, paediatrics, gynecology, legal medicine, and pathology has also been established. The new legislation regulates the procedure of granting authorisation to laboratories performing human molecular and cytogenic analyses and diagnosis. The Commission of experts will closely follow scientific discoveries, progress and practices and be required to issue appropriate recommendations accordingly as well as raise an alert sufficiently early to possible problems and legislative blind spots in the field.
Other European news
French rare disease helpline received almost 7000 requests in 2006
French rare disease information service Maladies Rares Info Services received 6834 requests for information or support in 2006 concerning 886 different rare diseases. The telephone remains the primary means of communication, with one written request for every five telephone calls. 74% of callers already had a diagnosis for their illness.
Other International News
US states react to veto of federal stem cell research bill
With US President George W. Bush's recent veto of a bill that would have expanded federal funding for human embryonic stem cell research, individual US states are taking the initiative to compensate for the expected lack of funds. Illinois has approved a measure that would dedicate some $12.5 million from state tobacco taxes to stem cell research and establish an institute to bestow grants. The measure is awaiting approval from the state governor, who already allocated $7.5 million to stem cell research over the last two years via “executive decree” thus avoiding the problems encountered in California.
Indeed, after years of wrangling, California is finally able to begin dispensing its $3 billion bourse to researchers. Distributed in the form of bonds, new stem cell research projects and laboratories can expect to receive funding in coming weeks. Human embryonic stem cell research is amongst that which 59% of state residents voted to fund back in 2004. A slew of ensuing lawsuits from taxpayer groups opposed to embryonic stem cell funding delayed distribution of the funds until very recently, when a state superior court judge deemed the California Institute for Regenerative Medicine (CIRM), which manages the funds, constitutional.

New site for genetic diseases in the US
Genetic Alliance, a US-based coalition of some 600 advocacy groups, and the NIH National Library of Medicine have joined forces to create a new internet website dedicated to genetic illness information. The site allows both patients and professionals to easily access information on genetic diseases, from basic descriptions of a disease and its symptoms to the most current scientific research.
US Parents fear dwindling resources for Down syndrome patients
With some 90% of American women opting to terminate a pregnancy testing positive for trisomy-21, otherwise known as Down syndrome, parents of offspring afflicted with the disorder are becoming obliged to agitate for resources, according to a New York Times article, which cites only 350,000 Down syndrome patients currently in the US. Following a recent recommendation by the American College of Obstetricians and Gynecologists recommending screening for all women, regardless of age, parents worry that the ultimate outcome will be reduced funding and institutional support for Down syndrome patients. Meanwhile, in France, the Haute Authority de Santé has made a recommendation for earlier, less invasive screenings, including nuchal translucency and blood tests, for women of all ages, and particularly for those over 38, who should not automatically be prescribed amniocentesis by rote, without a proper assessment of their need.

Ethical, Legal & Social Issues
Survey underscores role of professionals in disclosing genetic information
A survey of English-language guidelines from 18 different international, national and regional bioethic, genetic and health organisations from six different countries revealed a common set of recommendations concerning the disclosure of genetic information:

1) individuals have a moral obligation to communicate genetic information to family members
2) genetic health professionals should encourage this communication
3) genetic health professionals should support individuals throughout this process of communication

The authors conclude that while the guidelines provide an overview of the role of the genetic health professional in the communication of information, “there are gaps that need to be addressed”.
Read the abstract in the European Journal of Human Genetics.


Orphanet News
New Research Projects open for Recruitment
Homoharringtonine (CGX-635) in Treating Patients With Chronic Myeloid Leukemia (CML) With the T315I BCR-ABL Gene Mutation
Above multicentre trial in Germany
Above multicentre trial in France

(APL-A-005-02) Phase I - II clinical and pharmacokinetic study of Aplidin (APL) as a 3-hour intravenous infusion every 2 weeks, in children with refractory or relapsed malignant tumours and leukaemia
Above multicentre trial in France
Above multicentre trial in Spain

Efficacy and tolerance of Tazarotene cream in lamellar ichthyosis (LI): a dose-finding study in Germany
Above multicentre trial in France


New Genes
A dysfunction in SLC4A11 borate transporter gene explains Harboyan syndrome
Harboyan syndrome is characterised by corneal dystrophy and perceptive deafness and is transmitted as an autosomal recessive trait mapping at locus 20p13. This region has also been linked to hereditary congenital corneal endothelial dystrophy (CHED2) for which mutations of SLC4A11 were recently reported. The authors have identified mutations in the same gene in seven families affected by Harboyan syndrome. SLC4A11 codes a borate transporter. Why some mutations cause hearing loss in addition to corneal dystrophy is presently unclear. These findings extend the implication of the SLC4A11 borate transporter beyond corneal dystrophy to perceptive deafness.

Read the Pubmed abstract

Journal of Medical Genetics ; 322-326 ; May 2007
IFT80 and cilia implicated in Jeune syndrome
Jeune syndrome often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency. Retinal degeneration, cystic renal disease and polydactyly may be complicating features. By comparing the combination of clinical signs with those observed in other hereditary syndromes, the authors suggest that a dysfunction in the cilia could be the cause of the pathology. They analysed the sequence of genes implicated in ciliary function and contained in the chromosomic region linked to Jeune syndrome in three consanguous families. They identified three mutations in IFT80 involved in intraflagellar transport. Earlier studies on worms and an analysis in zebrafish confirm the role of IFT80 in the development of cilia.

Read the PubMed abstract

Nature Genetics ; 727-729 ; June 2007
RRM2B mutations in severe forms of mitochondrial DNA depletion
Mitochondrial DNA (mtDNA) depletion syndrome represents a heterogenous group of mitochondrial disorders characterised by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. Patients present a lack of muscle tone in early childhood, lactic acidosis, and elevated serum creatin kinase. Some patients have severe, often fatal, hepatic insufficiency or renal insufficiency. The majority of cases remain unexplained although mutations in several genes have been identified. The French researchers of this study now add RRM2B to the list. Mutations were identified in four families presenting a severe form of the syndrome. Initially identified as a target of well-known tumour suppressor p53, RRM2B intervenes to supply the mitochondria in dNTPs, the principal element in mtDNA synthesis.

Read the PubMed abstract

Nature Genetics ; 776-780 ; June 2007
A mutation in PITPNM3 explains an autosomal dominant form of cone dystrophy
Cone dystrophy is a hereditary disease characterised by retinal pigment deposits, predominantly in the macular region. Patients present colour vision disorders, loss of sight and hypersensitivity to light. Autosomal dominant forms are linked to chromosome region 17p13. The authors identified a mutation in the PITPNM3 locus in two Swedish families. The mechanism of the mutation effect has not been explained.

Read the PubMed abstract

Eur J Hum Genet ; 664-671 ; June 2007
Reduced NFIA expression contributes to a CNS malformation syndrome
Absence or hypoplasia of the corpus callosum frequently coexists with other developmental abnormalities, but whether a common genetic basis is at cause is unclear. In this study, the authors describe five patients presenting an absent or reduced corpus callosum, hydrocephalus, or ventriculomegaly, sometimes linked to urinary tract defects. All five patients exhibit NFIA reduced expression caused by a deletion or translocation interrupting the gene sequence. Invalidation of NFIA in mouse models confirms that the gene could contribute to this malformation syndrome in the five patients studied.

Read the PubMed abstract

PLoS Genet ; e80 ; 25 May 2007

Research in Action
Fundamental Research
Huntingtin interacting proteins are genetic modifiers of neurodegeneration
Huntington disease is a fatal neurodegenerative condition caused by polyglutamine tract expansion in the huntingtin protein (Htt). One consequence is the modification of the interactive capacities of the protein that could lead, at least in part, to the neuronal toxicity observed in patients. The authors identified in vitro the proteins interacting with Htt. By crossing Huntington disease fly models with flies carrying mutations in the genes coding these proteins, the authors identified 17 proteins for which function loss suppresses Htt toxicity in flies. These proteins thus present potential new targets for treating Huntington disease.

Read the PubMed abstract

PLoS Genet ; e82 ; 11 May 2007
Clinical Research
A distinction is made between sporadic forms of ALS and those with SOD1
Amyotrophic lateral sclerosis (ALS) is a motor neuron disorder of which some 10% of cases are familial (25% due to SOD1 gene mutations) and 90% are sporadic. Recently, TDP-43 was identified by the authors as the major pathological protein in sporadic ALS. In this study, TDP-43 was analysed in 111 patients presenting sporadic or familial ALS, either with or without SOD1 mutations. All the sporadic cases and the familial cases without SOD1 mutations had abnormal TDP-43 inclusions in the neurons and glial cells. In contrast, pathological forms of TDP-43 were not observed in mutated SOD1 cases. The results suggest that TDP-43 is implicated in the pathogenesis of sporadic forms of ALS and that a different pathological mechanism is likely responsible for familial forms of the illness linked to SOD1 mutations.

Read the Pubmed abstract

Ann Neurol ; 427-434 ; May 2007
A correlation is made between a partial deletion of the long arm of chromosome 18 and speech delay
Deletion 18q involves a region of the long arm of chromosome 18 that varies in length. Patients classically present hypotonia, delays in mental functioning and growth, facial dysmorphia, deafness, heart and genito-urinary malformations, and anomalies of the toes and articulations. The authors describe five patients with a common deletion situated in the 18q12.3-18q21.1 interval. All patients presented developmental and speech delays, suggesting the presence of genes necessary to language development in this region.

Read the Pubmed abstract

Am J Med Genet A. ; 1181-1190 ; May 2007
Copy-number variation of the gene coding complement component C4 predisposes for SLE
Systemic lupus erythematosus (SLE) is an auto-immune disease affecting numerous organs with a wide variety of clinical manifestations. The authors analysed the variation of size and number of copies of genes coding complement component C4, an immune system effector protein. This statistical study, carried out on 1241 persons, including 233 patients and 362 first-degree relatives, suggests that a small number of C4 gene copies is a predisposing factor for SLE, while conversely, a large number of copies has a protective effect on the development of the illness.

Read the Pubmed abstract

The American Journal of Human Genetics ; 1037-1054 ; June 2007
Long-QT syndrome is over diagnosed
Long-QT syndrome is a cardiac pathology characterised by an abnormally long electrocardiographic QT interval, often accompanied by T-wave morphological modifications. The authors studied the medical record data of 176 patients diagnosed with the syndrome. The results revealed that only 27% of patients had a definitive diagnosis while 41% did not, in fact, have the pathology. Diagnosis could not be definitively confirmed in the remaining 32% of patients. These diagnostic errors appear in large part to derive from an incorrect calculation of the interval and a false interpretation of symptoms.

Read the Pubmed abstract

Circulation ; 2595-2598 ; 22 May 2007
C-terminal titin recessive mutations cause a novel early-onset myopathy with fatal cardiomyopathy
The French authors of this study present five children from two consanguineous families affected by childhood-onset fatal dilated cardiomyopathy and congenital muscle weakness. Homozygous microdeletions in the gene coding titin were identified and appeared to be the cause of the disorder. Mutations in this gene have been observed previously but only in patients with either the cardiac or the skeletal muscles affected. Moreover, to date, only heterozygous mutations affecting titin had been observed in dominant transmission myopathies.

Read the PubMed abstract

Ann Neurol ; 340-341 ; April 2007
Low FCGR3B copy number has a key role in the development of systemic autoimmune illnesses
A recent statistical study suggested a link between the number of FCGR3B copies and the risk of developing systemic lupus erythematosus (SLE). The authors confirm that having less than 2 copies is a predisposition factor for SLE. Moreover, this link appears to be true for two other systemic autoimmune disorders: microscopic polyangiitis and Wegener granulomatosis. Conversely, the authors did not observe this link in organ-specific Grave or Addison diseases.

Read the PubMed abstract

Nat Genet ; 721-723 ; June 2007

Patient Management and Therapy
Selective iron chelation improves neurological functioning in Friedreich ataxia
Friedreich ataxia is caused by mutations in the gene coding frataxin, resulting in a mitochondrial iron accumulation provoking lesions of the sensory neurons, myocardium and endocrine glands. The French authors tested the effect of deferiprone, a chelator thought to reduce the toxic accumulation of iron. After six months of treatment, a reduction of iron in the brain, notably in the dentate-nuclei, was observed. Coordination impairment was also reduced in certain patients, with the best results observed in the youngest patients. No undesirable neurological or haematological effects have been detected.

Read the Pubmed abstract

Blood ; 401-408 ; 1 July 2007
Thymus transplantation in 44 patients with DiGeorge anomaly
DiGeorge anomaly is characterised by varying defects of the heart, thymus and parathyroid glands. The authors describe the outcome of 44 DiGeorge patients receiving thymic transplantation. Thirty-three patients survived the intervention and were receiving follow-up as long as 13 years after transplantation. The other 11 patients all died within 12 months of transplantation. Adverse effects on transplanted patients include hypothyroidism (in five subjects) and enteritis in one patient.

Read the Pubmed abstract

Blood ; 4539-4547 ; 15 May 2007
Phenylacetate and benzoate improve survival for urea-cycle disorder patients
Patients afflicted with urea-cycle disorder present with hyperammonemia due to partial or complete inactivation of the enzymes responsible for eliminating ammonium. These patients have neurological problems and a high mortality rate. Current treatments prolong life in some patients, but their efficacity is globally weak. Over a 25-year period, 299 patients were administered sodium phenylacetate and sodium benzoate therapy. The survival rate in these patients was 84%, with the oldest patients having the highest survival rate. Other therapies, such as hemodialysis, were necessary for patients not responding to the treatment.

Read the PubMed abstract

NEJM ; 2282-2292 ; May 2007

Orphan Drugs
Five EMEA orphan designations for May 2007

The COMP (Committee for Orphan Medicinal Products) adopted the following 5 positive opinions on orphan medicinal product designation at its May meeting for the treatment of:

- narcolepsy
- Guillain-Barré syndrome
- aspiration pneumonitis requiring intubation and mechanical ventilation
- Pompe Disease
- cryopirin-associated periodic syndromes (Familial Cold Urticaria Syndrome, Muckle-Wells Syndrome, and Neonatal Onset Multisystem Inflammatory Disease, also known as Chronic Infantile Neurological Cutaneous Articular Syndrome)

Consult the European Registry for Orphan designations
Consult the Orphanet list of marketed orphan drugs in Europe

Marketing authorisation recommended for Increlex® for primary IGF-1 deficiency
The CHMP has recommended marketing authorisation for Increlex® (mecasermin), produced by Tercica Europe Ltd., for the long-term treatment of growth failure in children and adolescents with severe primary insulin-like growth factor-1 deficiency. Increlex® has been marketed in the US since early 2006.
Genzyme gains exclusive rights to clofarabine
Genzyme Corporation, in its recent acquisition of Bioenvision, Inc., now holds the exclusive worldwide rights to clofarabine, presently marketed as Evoltra® in Europe for the treatment of acute lymphoblastic leukemia (ALL) in relapsed and refractory pediatric patients and in development for larger indications, including adult acute myeloid leukemia (AML). Clofarabine has orphan-designation status for ALL and AML treatment both in the US and in Europe. Read Genzyme's Press Release.
Orphan Europe acquires world-wide rights to Cystadane®
The orphan drug pharmaceutical enterprise Orphan Europe has acquired Cystadane®, used for the treatment of homocystinuria, a rare disease of genetic origin, from US company Jazz Pharmaceuticals, Inc. Cystadane® (betaine anhydrous) already has marketing approval in the US, Canada, Australia and Israel and in February of this year received marketing authorisation in Europe. Homocystinuria causes a variety of sometimes severe symptoms involving mainly the ocular, nervous and vascular systems, and can also include mental disability, seizures, psychiatric disturbances, osteoporosis, scoliosis, marfanoid features and thromboembolic complications. Cystadane® lowers the toxic homocysteine levels by activating an alternative metabolic pathway for the metabolisation of homocysteine.

News from the Patients' Associations
Hungary's umbrella provides shelter for rare disease patients
Following the examples of Eastern European neighbours Romania and Bulgaria, Hungary's own national alliance for rare diseases is becoming more and more active, reports Eurordis, the European Organisation for Rare Diseases, who point out that national alliances are essential for rare diseases in order to effectively lobby for funding and other resources. HUFERDIS-Rare Diseases Hungary has commenced working on a project creating the "Hungarian Rehabilitation Center for Rare Disease Patients". The coalition aids and coordinates rare disease patient groups, and is trying to raise national awareness for rare diseases. The Hungarian Williams Syndrome Association played a key role in establishing the alliance.

Courses & Educational Initiatives
Human Embryonic Stem Cell Training Programme
Working with Human Embryonic Stem Cells workshop
Date: 9-12 July 2007
Venue: Centre for Stem Cell Biology, University of Sheffield, UK
Further information

Neonatal brain injury and imaging
Orphan Europe Academy workshop on neonatal brain injury and imaging course to provide participants with an in-depth understanding of newborn, pre-term and term brain injury development. Asphyxia, bleedings and white matter injury together with CNS malformations and metabolic diseases will be described in context with the level of brain maturity.
Date: 26-29 September 2007
Venue: Karolinska University Hospital, Stockholm
Further information


What's on Where?
1-day Conference: Clinical Research for Rare Diseases: Opportunities, Challenges and Solutions
Date: 5 September 2007
Venue: Washington, DC, USA
More details

Rare Diseases Research: Building on Success - a European Conference
Date: 13 September 2007
Venue: Charlemagne building- Brussels, Belgium
Web details to follow shortly

4th Stem Cell Gene Therapy Conference
Date: 13-17 September 2007
Venue: Halkidiki, Thessaloniki, Greece
More details

EuroGentest Workshop on internal auditing for genetic testing laboratories
Date: 20-21 September 2007
Venue: Leuven, Belgium

Registration is open for this EuroGentest workshop on internal audit for genetic testing laboratories that will feature presentations, role play, video fragments and group discussions on how to prepare, execute and report internal audits. Registration deadline: 15 July 2007

More details and to register now

8th EPPOSI Partnering Workshop on Orphan Drugs
Date: 18-19 October 2007
Venue: Copenhagen

This year's workshop is dedicated to exploring the topic The Reality of Orphan Medicines and will provide a platform for consensus building and the cultivation of partnerships between patients, academia, and industry as well as European and member state authorities in order to convert policy issues and scientific developments into therapies for rare diseases.

More details and to register now

3rd International Meeting on Congenital Disorders of Glycosylation
Date: 18-19 October 2007
Venue: Paris

This international meeting on CDG is preceeded by the 3rd Orphan Focus Course on "Protein Glycosylation in Health and Disease" on Oct 16-17.

For more details on the course
More details on the conference

Biology and clinical applications of cord blood cells
Date: 19-21 October 2007
Venue: Paris, France
More details

4th European Conference on Rare Diseases (ECRD 2007)
Date: 27-28 November 2007
Venue: Lisbon, Portugal

This important rare disease conference will be held in English and simultaneously translated into French, German, Portuguese and Spanish.

NB: Registration is open. Deadline for abstract submission: 31 July 2007
More details

15th Annual Meeting, Int'l ALS/MND Associations Alliance & 18th ALS/MND Int'l Symposium
Date: 1-3 December 2007
Venue: Toronto, Canada
More details


Press & Publications
Two reviews assess rare disease drugs in Europe
Prescrire International, the English-language version of France-based review Prescrire, has published a survey of the rare disease medicine market in Europe, taking note that discrepancies still exist between Member countries, especially concerning pricing and access to products. While acknowledging that the mechanisms in place to foster the research and development of orphan medicinal products have significantly increased the number of products receiving orphan drug status and marketing authorisation (to date, 39 orphan-designated drugs have received marketing authorisation), the article concludes that there is still too much “duplication and too little evaluation” and that too many drugs remain “extremely expensive” (up to 300,000 euros per patient per year), with the result that patients in many European countries cannot obtain the medicines they need. Finally, the article concludes that too many rare diseases are still being neglected. Read the PubMed astract.

Meanwhile, a British team has published an article in the International Journal of Technology Assessment in Health Care describing the challenges orphan drug costs pose to health care systems. The authors conclude that standard “health technology assessment methods” used to evaluate a product economically may not be adequate for decision-making assistance concerning patient access and funding for orphan drugs and delineates a “research agenda” taking into account the “societal value” of orphan drugs. Read the PubMed abstract.


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: Ségolène Aymé
Editor: Louise Taylor
Contact Us
Editorial Board: Ségolène Aymé, Catherine Berens, Kathy Beuzard-Edwards, Helen Dolk, Anders Fasth, Edmund Jessop, Matthieu Levi-Strauss, Jordi Llinares-Garcia, Antoni Montserrat, Annie Olry, Claire Scharf-Kroener, Janos Sandor, Arrigo Schieppati, Rumen Stefanov, Domenica Taruscio, Joan Luis Vives Corrons
For more information on the Rare Diseases Task Force
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