Edition of 13 August 2009

Share:

Editorial

Call for Tender issued to determine newborn screening practices for rare disorders in each Member State of the European Union

The Call for Tender Evaluation of Population Newborn Screening Practices for Rare Disorders in Member States of the European Union has been published in the Official Journal of the European Union. This call seeks to bridge the knowledge gap surrounding the current policies and practices for newborn screening in the Member States (MS). The outcome of the call will be a detailed report on newborn screening practices in the MS that outlines the disorders screened and the rationale behind conditions chosen for inclusion in each MS programme; the number of newborns being screened; the technologies involved; the number of centres involved in newborn screening; and the medical management and follow-up care implemented in the MS. Another related outcome will be a network of experts established to produce a final opinion with recommendations for best practices, a “core panel of … conditions that could be included in all MS practices”, and the development of a matrix for decision making that MS could use to expand or reduce screening practices. The tender offer reflects recommendations outlined in the European Commission Communication Rare Diseases: Europe’s Challenges that specifically address the issue of screening:

It is recommended to encourage cooperation in this area to generate evidence on which decisions should be based at Member States level. An evaluation of current population screening (including neonatal screening) strategies for rare diseases and of potential new ones, will be conducted by the Commission at EU level to provide Member States with the evidence (including ethical aspects) on which to base their political decision. The Commission will consider such support as a priority for action.

The deadline for submitting a Tender for this call is 2 September 2009. For more detailed information, consult the website of the European Agency for Health and Consumers.

Task Force Update

EU Policy News

European survey of direct-to-consumer genetic test offers finds need for regulation

A European Parliament Science and Technology Options Assessment report examines the growing phenomenon of direct to consumer genetic tests (DCGT) from the perspectives of experts, authorities and the marketplace, and weighs the need for political intervention. The factors fueling the increasing usage of Internet-purchased genetic tests are the same elements that characterise the field of genetic testing in general: growing availability of tests for both common and rare disorders; technical improvements that lower costs; and the viewpoint that genetic testing has an important role to play in preventive medicine. However, sharp differences distinguish DCGT from standard genetic testing – with the crucial role of genetic counselling being largely absent from Internet genetic test offers. While the majority of DCGT offers involve testing for susceptibility toward common disorders, some 20% of the 38 companies surveyed in the report offer tests for monogenic disorders – all of which are rare. One company tests for late-onset Chorea Huntington disease. The report assesses the information provided to consumers, including the qualification of institute and personnel; the accuracy of test data; genetic testing in general and test-specific information; necessity and possible methods of counselling; consequences and actions to be taken; and price of genetic testing. Other points discussed in detail include quality assessment, the need for regulation, and potential policy options. The report concludes that in order to ensure quality, a European system of control and accreditation of laboratories carrying out direct to consumer molecular testing could be established following the guidelines delineated in the recent OECD publication on the subject. A “checklist” for further policy intervention options is discussed.
Consult the report

DG Research

EMEA

National & International Policy Developments

Other International News

New Syndromes

New Genes

Research in Action

Fundamental Research

Clinical Research

Stem Cells

Therapeutic Approaches

Diagnostic Approaches

Patient Management and Therapy

Orphan Drugs

Commentary depicts gloomy picture of orphan drug development in Europe

A commentary appearing in the British Journal of Clinical Pharmacology presents some sobering statistics concerning the development of medicinal products for rare diseases in Europe. Orphan Drug Development Is Not Taking Off asserts that although rare diseases, taken collectively, present a major public health issue, the development of medicinal products for these illnesses is faltering. Is it the fragmented market that continues to discourage the development and marketing of new products, despite robust incentive mechanisms available since the year 2000 under orphan drug regulation 141/2000? Between 2000 and 2007, only 45 products were approved for marketing authorisation from a total of 528 orphan indications relating to 400 products. This rate of 8.5% of successful orphan drug authorisation pales in comparisn to the 70.7% rate for non-orphan drugs during the same period. State the authors:

The epidemiological magnitude of rare diseases (7000) is possibly reflected by the number of orphan drug designations (528) but not by their approvals (44), and even less so by their availability on the market (only 26 in the Italian market, driven by a fairly generous national health service).

The authors ponder the possible causes for the current state of affairs:

It is a cause for concern that in spite of an ad hoc law, after 8 years orphan drugs in the EU are still few and poorly studied.… It is not clear what discourages the pharmaceutical industry from developing so few orphan drugs out of the many designated, in spite of the market exclusivity, methodological facilities, and the willingness of the European health systems to pay the high costs and endure the possible low cost-effectiveness of these products. Stakeholders need to reflect on these findings to foster new measures to provide an answer to this largely neglected clinical and social issue.
Consult the free-access article

What's on Where?

Press & Publications

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

Editorial

Call for Tender issued to determine newborn screening practices for rare disorders in each Member State of the European Union

Task Force Update

Summer break....

EU Policy News

Alzheimer Communication adopted by EC encompasses rare forms of dementia

European survey of direct-to-consumer genetic test offers finds need for regulation

DG Research

European Commission issues FP7 calls for proposals in several fields... including health

European Commission seeking expertise for FP7 evaluation, review and monitoring

EMEA

The EMEA issues a report considering the communication of benefit/risk information for medicinal products

The COMP appoints new members

National & International Policy Developments

Other International News

Research network for orphan lung diseases launched in the land down under

New Syndromes

Congenital spastic tetraplegia: a genetic model for congenital cerebral palsy

Severe growth retardation and multiple malformations caused by loss-of-function mutation in the dioxygenase-encoding FTO gene

New Genes

Acanthosis nigricans and postprandial hyperinsulinemia: a truncation mutation in TBC1D4

Intellectual deficit and nonsyndromic epilepsy: de novo STXBP1 mutations

Multiple synostoses: a missense mutation in exon 2 of the FGF9 gene identified

Nonsyndromic hearing loss: noncoding mutations of HGF are associated

Congenital disorders of glycosylation and the dystroglycanopathies: DPM3 deficiency bridges the disorders

Odonto-onycho-dermal dysplasia: mutations cause broad spectrum of ectodermal dysplasias with sex-biased pattern

Cutis laxa type 2: mutation in pyrroline-5-carboxylate reductase 1 gene identified

Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency

Research in Action

Fundamental Research

Clinical Research

If-pathies: a large disease spectrum caused by intermediate filament anomalies

17q21.31 microdeletion syndrome: phenotypic expansion and further characterisation

Ehlers-Danlos syndrome: neuromuscular involvement in various types of the disease

Haemochromatosis in the Asian community

Neurofibromatosis 1: unravelling the genetic basis of variable clinical expression

Lymphangioleiomyomatosis and tuberous sclerosis complex: phenotype differences between TSC1 and TSC2 mutations

Stem Cells

Fanconi anaemia: disease-corrected haematopoietic progenitors from induced pluripotent stem cells

Therapeutic Approaches

Ewing sarcoma: a small molecule blocking oncogenic protein EWS-FLI1 interaction with RNA helicase A inhibits growth

Diagnostic Approaches

Free sialic acid storage disease without sialuria

Patient Management and Therapy

Placental-site trophoblastic tumours: prognostic markers and long-term outcome

Inherited erythromelalgia: a novel Na(v)1.7 mutation produces a carbamazepine-responsive form of the disease

Allogeneic hematopoietic cell transplantation and subsequent quality of life

Noonan syndrome: patterns of growth and puberty in patients treated with growth hormone

Griscelli syndrome type 2: hematopoietic stem cell transplantation is beneficial but needs improvement

Neuroblastoma: predicting outcomes for children using a multigene-expression signature

Orphan Drugs

Rare disease medicine Soliris again a prize winner

Commentary depicts gloomy picture of orphan drug development in Europe

What's on Where?

Treatment Options in Phenylketonuria and Related Pediatric Neurotransmitter Disorders

14th International World Muscle Congress

Rare neurometabolic and neurogenetic disease in adults: a joint French-Italian workshop

ESH Eleventh International Conference – Chronic Myeloid Leukaemia

Genetics and Genomics of Vascular Disease Workshop

European Working Group on Rett Syndrome – 2009 Meeting

Adaptive Immunity and the Pathogenesis of Rheumatic Diseases – A Translational Research in Paediatric Rheumatology Conference

British Paediatric Neurology Association: Rare Disorders Symposium

Fourth International Conference on Birth Defects and Disabilities in the Developing World

XXth Congress of International Society of Haematology - European and African Division

ESH Conference on Myelodysplastic Syndromes

EPPOSI: 10th Workshop on Partnering for Rare Disease Therapy Development

European Society for Phenylketonuria Annual Conference 2009

TREAT-NMD/NIH International Conference

OI in motion: Rehabilitation and Physiotherapy in Osteogenesis Imperfecta

ESF-UB Conference in Biomedicine: Rare Diseases II: Hearing and Sight Loss

International Conference on Myasthenia

2nd Pan-European Conference on Haemoglobinopathies

18th International Workshop on Vascular Anomalies

5th European Conference on Rare Diseases 2010

Press & Publications

Gene Patents and Collaborative Licensing Models: Patent Pools, Clearinghouses, Open Source Models and Liability Regimes

Molecular Basis of Pulmonary Disease: Insights from Rare Lung Disorders