Edition of 15 June 2005

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OrphaNews Europe: communicating about rare diseases in Europe

Welcome to the first edition of OrphaNews Europe, a new monthly newsletter from the EC’s Rare Diseases Task Force.

The EU, in the field of Public health, has the objective of promoting and improving health, preventing disease, and countering potential threats to health, with a view to reducing avoidable morbidity and premature mortality and activity-impairing disability. To contribute to the well-being of European citizens, the Community must address in a coordinated and coherent way the concerns of its people about risks to health and their expectations for a high level of health protection. All health-related activities of the Community must have a high degree of visibility and transparency and allow consultation and participation of all stakeholders in a balanced way, in order to promote better knowledge and communication flows and enable a greater involvement of individuals in decisions that concern their health.

The Community population has a right to receive simple, clear and scientifically sound information about measures to protect health and prevent diseases, with a view to improving their quality of life. In the area of rare diseases, the Community action programme 1999-2003 supported a total of 24 projects for an amount of 6.5m euros, only 60% of the available budget. Although many interesting and significant projects were supported, the underutilisation of the available financial resources gives us a clear message that we now need to foster new initiatives and encourage new partnerships. The expansion of the EU in May 2004 to include 10 new member states, and the continuing process of enlargement is yet another challenge, as citizens and health professionals in these countries are still often in urgent need of support and encouragement.

The EU Public Health Programme 2003-2008 also includes rare diseases as an area for support. In order to better follow up the projects supported in the previous rare diseases programme, to link with other public health projects, and to work in close harmony with Community activities on research, on pharmaceutical policy and on patient mobility, the Commission decided to create a specific Task Force on Rare Diseases within the Public Health Programme. The support of health professionals, patient groups and other concerned parties has made this group a dynamic partner in steering the public health programme activities on rare diseases. The first concrete initiative resulting from this partnership is the decision to hold a rare diseases conference later this month in Luxembourg, with the support of Eurordis and other relevant organisations, the European Commission through the EU public health programme, and the Luxembourg presidency of the Council of Ministers.

A second concrete initiative is the launch of this newsletter, which the Commission welcomes as a useful contribution to improving transparency, and increasing the knowledge of rare diseases activities at Community level. I wish the publication and its authors every success with this venture.

John F. Ryan
Head of Unit
Health Information
European Commission

Deadline for submissions

We welcome your contributions to OrphaNews Europe. Please send your ideas for articles by contacting the editor here.

Deadline for the next issue is 30 June 2005.

Working groups

RDTF Meetings

The French National Plan for Rare Diseases

The French National Plan for Rare Diseases, which runs from 2004 – 2008, was launched in November 2004, making France the only country in Europe to have a major strategy for rare diseases enshrined in national law. The Plan translates the strong political engagement for rare diseases described in the French Public Health Policy law of 9 August 2004.

The publication of the Plan was the culmination of a wide consultation process, associating experts in rare diseases, clinicians and researchers, representatives from patient groups, from the national health insurance, and from the ministries of health and of research.

The Plan proposes a series of concrete measures intended to be coherent and structuring for the organisation of the French system of care provision and to provide a response to the expectations of patients and their families. Its stated aim “to ensure equity in the access to diagnosis, to treatment and to provision of care” for people suffering from a rare disease is channelled through ten strategic priorities:

- To increase knowledge of the epidemiology of rare diseases

- To recognise the specificity of rare diseases

- To develop information for patients, health professionals and the general public concerning rare diseases

- To train professionals to better identify them

- To organise screening and access to diagnostic tests

- To improve access to treatment and the quality of healthcare provision for patients

- To continue efforts in favour of orphan drugs

- To respond to the specific needs of accompaniment of people suffering from rare diseases and develop support for patients’ associations

- To promote research and innovation on rare diseases, notably for treatments - To develop national and European partnerships in the domain of rare diseases

Read the National Plan for Rare Diseases in English or in French.

Access the French national centres of reference dossier in English

Interview

DG SANCO

DG Research

DG Enterprise

Human tissue engineering and beyond: consultation on advanced therapies

The European Commission’s DG Enterprise and Industry has drafted a proposal for a regulatory framework on human tissue engineered products which is now available for consultation and comments.

Human tissue engineering combines various aspects of medicine, cell and molecular biology, materials science and engineering, for the purpose of regenerating, repairing or replacing diseased tissues. Current applications of this nascent field of “regenerative medicine” include treatment for skin, cartilage and bone diseases or injuries and more complex products are already in development. These advanced therapies (gene therapy, cell therapy, and tissue engineering) hold great promise for improved treatment opportunities for patients with rare disorders. However, tissue engineered products currently lie outside any legislative framework. The lack of an EU-wide classification and authorisation process leads to divergent approaches across Member States, which impairs the free movement of human tissue engineered products and hinders patients’ access to these innovative therapies.

A first round of consultation took place in 2002 and 2004. On the basis of these previous consultations, the Commission has prepared a proposal to bridge the regulatory gap, by addressing all advanced therapies (i.e. gene therapy, somatic cell therapy, and human tissue engineering) within a single, integrated and tailored framework, fully taking into account their scientific and technical inherent characteristics, as well as the specificities of the economic operators concerned.

The main elements of the draft proposal are:

-centralised marketing authorisation procedure;
-expert committee for advanced therapies to be set up within the European Medicines Agency;
-guidance on good manufacturing practice;
-requirements for risk management and post-authorisation traceability;
-financial and administrative incentives for SMEs to develop new therapies;
-principles on human rights and respect for dignity of the individual.

All interested parties are invited to send comments on the Consultation paper and Draft Regulation to Nicolas Rossignol at DG Enterprise Pharmaceuticals Unit by 20 June 2005.

Eurordis, the European Organisation for Rare Disorders, already supports European harmonisation in this field by coordinating a European network of biological material banks (EuroBioBank), specialised in the collection of DNA, tissues and cells from patients affected by rare diseases.

http://pharmacos.eudra.org/F2/advtherapies/docs

EMEA

European Parliament

Policy developments in EU member states

Policy developments in EU candidate countries

Raising awareness in Eastern Europe

The “Promotion of Healthcare and Research on Rare Diseases and Orphan Drugs in Eastern European Countries” conference, the first of its kind to be held in Eastern Europe, took place on 27 May 2005 in Plovdiv, Bulgaria.

The aim of the conference was to raise governmental and public awareness in Eastern Europe on rare diseases and orphan drugs. The conference was organized by the Bulgarian Association for Promotion of Education and Science (BAPES) with the official support and partnership of the Bulgarian Ministry of Health and the Mayor of Plovdiv.

Speakers’ presentations covered subjects from the perspective of orphan medicines from a biotech company (Genzyme), to health care models in a transition economy (Croatia), increasing awareness of rare diseases (Orphanet) and the role of patient associations for improving the quality of life of people with rare diseases (Eurordis).

This first and very important event was supported by Genzyme as the main sponsor, along with Sanofi-Aventis and TKT Europe, and by the official partners ’All Channels Communication’ and Neoprint.

Whilst three quarters of conference participants came from academia, government, patient associations and industry were also represented. At the opening ceremony, participants were addressed by Ivan Chomakov , the Mayor of Plovdiv, and Catherine Berens of the EC’s DG Research. An official representative of the Bulgarian Ministry of Health read a welcome letter on behalf of Slavcho Bogoev, the Bulgarian Minister of Health.

Information about the conference will be disseminated all over the world as a result of a creative initiative by the Union of Bulgarian Philatelists. The Union issued a jubilee first day cover and a special postmark in support of the event to increase public awareness on the problems of patients with rare diseases and the need for extensive global research.

Many medical professionals from Eastern European countries registered a high level of interest in the topic of rare diseases and orphan drugs but some were unable to attend the meeting in Bulgaria due to financial reasons. For this reason, the speaker presentations are being made available online in video and PDF form giving free access to all interested parties.

http://www.raredis.org

International policy

US Guidelines Released for Embryonic Stem Cell Research

The US National Academies, the nation's main independent science advisory board, has issued guidelines for research involving human embryonic stem (hES) cells, and urged all institutions conducting such research in the USA to establish oversight committees to ensure that the new guidelines will be followed. Produced by the NAS National Research Council and Institute of Medicine, the voluntary guidelines are intended to enhance the integrity of privately funded human embryonic stem cell research by encouraging responsible practices.

“A standard set of requirements for deriving, storing, distributing, and using embryonic stem cell lines -- one to which the entire U.S. scientific community adheres -- is the best way for this research to move forward," said Richard Hynes, Professor of Cancer Research at the Massachusetts Institute of Technology, one of the project committee co-chairs.

Central to the recommendations is a dual system of oversight at the institutional and national levels. The guidelines also cover the hES cell procurement process, adherence to standards of clinical care, compliance with relevant regulations, banking of hES cell lines and the need for a regular national policy review.

The guidelines were published in an uncertain climate for public research on hES cell research in the US. On 24 May, the US Congress passed a bill to expand federal financing for this type of research, defying a veto threat from President Bush, who warned the measure "would take us across a critical ethical line by creating new incentives for the ongoing destruction of emerging human life". The new bill – which is still to be debated in the US Senate - permits the US government to pay for studies involving human embryos that are in frozen storage at fertility clinics, as long as couples conceiving the embryos have certified that they had made a decision to discard them. The former legislation, passed in 2001, limited federal financing to studies of those stem cell lines that had already been created.

Other international news

EU project focus

New diseases & syndromes

New genes

New clinical research

Industry facilitates disclosure of clinical trial information...

The International Federation of Pharmaceutical Manufacturers and Associations (IFPMA) announced last month the launch of a new internet search portal to provide patients and physicians with full information about ongoing and completed clinical trials. The new tool aims to provide fast, user-friendly access to all data made available by the research-based pharmaceutical industry on clinical trial registries and databases worldwide.

In January 2005, the innovative pharmaceutical industry represented by IFPMA, the European Federation of Pharmaceutical Industries and Associations (EFPIA), the Japanese Pharmaceutical Manufacturers Association (JPMA) and the Pharmaceutical Research and Manufacturers of America (PhRMA) committed to increasing the transparency of clinical trials sponsored by member companies through a Joint position on the disclosure of clinical trial information via clinical trial registries and databases.

Specifically, the industry volunteered to publicly disclose summary results of all industry-sponsored clinical trials of medicines that have been approved for marketing via free, publicly accessible databases, regardless of trial outcome. In addition, the industry will publicly register new clinical trials being performed to determine a medicine’s therapeutic benefit, including information on how patients and clinicians can enrol in such studies.

Trial results will be published in a standard, non-promotional summary that will include a description of trial design and methodology, results of primary and secondary outcome measures described in the protocol, and safety results. If the results are published in a peer-reviewed medical journal, the database will include a link to the relevant article. The results will be published within one year after the medicine is approved or, for post-approval trials, within one year of trial completion.

IFPMA will work with IBM to develop the internet search portal which will be active from September 2005.

New therapeutic & diagnostic approaches

New databases

Genetic testing

New registers & surveys

Surveillance

EUROCAT: 25 years of European surveillance of congenital anomalies

EUROCAT, the European network of registers for the epidemiologic surveillance of congenital anomalies, has a 25 year history. The network covers 1.2 million births per year, a quarter of the births in Europe, and includes almost all population-based registers of congenital anomaly in Europe as its members.

The surveillance of congenital anomalies serves two main purposes : to facilitate the identification of teratogenic (malformation-causing) exposures and to assess the impact of primary prevention and prenatal screening policy and practice at a population level.

Maintaining high quality data usually requires a limit to the total size of the population to be covered by a register, thus the preference in larger nations for regional rather than national registries, networked nationally and at a European level by EUROCAT. Funding for network co-ordination currently comes from the European Commission’s Directorate General for Health and Safety, under its Public Health Programme, as a component of the European information system for rare diseases. EUROCAT is also a WHO Collaborating Centre for the Epidemiologic Surveillance of Congenital Anomalies. The added value of European collaboration is particularly great for congenital anomalies, coming from the opportunity to pool data, to compare data between regions and countries, to give a common response to European public health questions, and to share expertise and resources, including computing tools.

The Objectives of EUROCAT:

- To provide essential epidemiologic information on congenital anomalies in Europe
- To facilitate the early warning of teratogenic exposures
- To evaluate the effectiveness of primary prevention
- To assess the impact of developments in prenatal screening
- To act as an information and resource centre regarding clusters or exposures or risk factors of concern
- To provide a ready collaborative network and infrastructure for research related to the causes and prevention of congenital anomalies and the treatment and care of affected children
- To act as a catalyst for the setting up of registries throughout Europe collecting comparable, standardised data
Read more

DG Research calls for proposals

National calls for proposals

International calls for proposals

Orphan Drug policy issues

New designations & authorisations in Europe

April/May 2005

In April and May 2005, the European Medicines Agency Committee on Orphan Medicinal Products (COMP) adopted the following positive opinions on orphan designation for medicinal products for the following indications:

April
Treatment of cystic fibrosis
Treatment of Duchenne muscular dystrophy
Treatment of cutaneous T-cell lymphoma
Treatment of B-cell chronic lymphocytic leukaemia
Treatment of acute lung injury
Treatment of idiopathic pulmonary fibrosis
Treatment of acathamoeba keratitis
Treatment of idiopathic thrombocytopenic purpura
Prevention of radiation proctitis

EMEA COMP opinions for April

May
Treatment of Huntington's disease
Treatment of pancreatic cancer
Treatment of acute sensorineural hearing loss (acute acoustic trauma, sudden deafness and surgery induced acoustic trauma)
Prevention of recurrent hepatitis C virus induced liver disease in liver transplant recipients
Treatment of Hodgkin’s lymphoma
Treatment of Ep-CAM-positive squamous cell carcinoma of the head and neck
Treatment of multiple myeloma
Treatment of acute lymphoblastic leukaemia
Treatment of hepatocellular carcinoma
Prevention of oral mucositis in head and neck cancer patients undergoing radiation therapy

EMEA COMP opinions for May

In addition, four applications for marketing authorisations for orphan medicinal products were submitted to the EMEA in April and May 2005:

- recombinant human monoclonal antibody to hsp90 for treatment of invasive fungal infections
- rufinamide for treatment of Lennox-Gastaut syndrome
- stiripentol for treatment of severe myoclonic epilepsy in infancy
- 4-(3,5-bis-(hydroxyphenyl)-1,2,4)triazol-1-yl)-benzoic acid for treatment of chronic iron overload requiring chelation therapy

Currently these applications are under review by the CHMP (Committee for Human Medicinal Products).

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

Eurordis update

Zoom on...

European Marfan Support Network

The European Marfan Support Network (EMSN) supports and encourages organisations within Europe by exchanging and sharing information and by working for the benefit of people with Marfan Syndrome (MFS) or related disorders and their families.

The EMSN was established in 1991 by the representatives of the Association Belge du Syndrome de Marfan, the Association Française du Syndrome de Marfan, the Marfan Hilfe Deutschland, the Contactgroep Marfan Nederland, the Marfan Foundation (Switzerland) and the Marfan Association UK. Since then, the Kontaktgroep Marfan (Flemish Belgium), the Danish Marfan Association, the Finnish Marfan Association, the Marfanforeningen (Norway), the Slovak Marfan Association and the Asociacion de Afectados Sindrome de Marfan (Spain) have joined the EMSN as full members. Normally one organisation that is officially recognised in its own country is admitted, but in exceptional cases (e.g. different ethnic groups/organisations in one country) a maximum of two organisations per country can join. The EMSN is funded by its members through a modest membership fee.

EMSN members hold an annual meeting in a different country each year, which is hosted by the local Marfan Association. In exceptional cases, like this year, it will be held in connection with the Seventh International Symposium on the Marfan Syndrome in Ghent, Belgium. on the 14-17 September.

During its existence, the EMSN has seen many changes for the better. Whereas 15 years ago, information on MFS was hard to come by, today's members have access to the latest information on research and treatment through the Internet. In spite of better diagnosis and treatment now being available, which extends the average life span of people with MFS, living with this complex genetic disorder affecting many organ systems is still a major daily challenge.

The success of the EMSN lies in exchanging experiences and information under our motto 'TOGETHER WE CAN' and depends on our close liaison and collaboration to make a real difference to the lives of those affected and their families.

If you would like to contribute news about a European-wide rare disease association or network, please write to Orphanews Europe

Courses

Educational resources & materials

In July

In August

In September

In October

In 2006

OrphaNews, newsletter of the rare disease community
Orphanews is supported by the European Commission's DG SANCO (EUCERD Joint Action N° 2011-22-01)
and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ségolène Aymé
Editor: Divya Unni
Editors for Scientific Content: Catherine Pouzat, Sophie Höhn
Contact Us
Editorial Board: Ségolène Aymé, Kate Bushby, Catherine Berens, Barbara Cagniard, Virginie Hivert, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Charlotte Rodwell, Jaroslaw Waligora

INTERNATIONAL CORRESPONDENTS
EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Rumen Stefanov (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), To be nominated (Poland), Alexandre Diniz (Portugal), Emilia Severin (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), To be nominated (Sweden) , Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Yann Le Cam, Christel Nourissier, Bianca Pizzera
EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Iiro Eerola, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Jaroslaw Waligora, Antoni Montserrat Moliner, Michael Huebel, Bruno Sepodes (EMA-COMP)

Orphanet Partner Country Representatives: Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Joerg Schmidtke (Germany), Helen Michelakakis (Greece), Zsuzsanna Lengyel (Hungary), Andrew Green (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequeiros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
For more information on the European Union Committee of Experts on Rare Diseases
Orphanet - All rights reserved
Photo credit : Serimedis http://www.serimedis.inserm.fr/ (unless otherwise stated)

OrphaNews Europe: communicating about rare diseases in Europe

Optimising European collaboration in rare diseases

Working groups

RDTF Meetings

Third meeting of the Task Force

We want to hear from you!

The French National Plan for Rare Diseases

Interview

Dr Alexandra Fourcade, French Ministry of Health

DG SANCO

New EC programme for Health and Consumer Protection

Open consultation on technical requirements for human tissues and cells

DG Research

New framework programme for research

European Commission plans for 170 million euro call for SMEs

DG Enterprise

Human tissue engineering and beyond: consultation on advanced therapies

EMEA

Biobank issues relevant to pharmacogenetics: EMEA calls for comments

European Parliament

European Parliament proposes changes to EU stem cell research funding

Policy developments in EU member states

UK commits to gene therapy trials for inherited diseases

UK Stem Cell Initiative launched

French Biomedicines Agency open for business

Therapeutic cloning legal in Sweden

Policy developments in EU candidate countries

Raising awareness in Eastern Europe

International policy

US Guidelines Released for Embryonic Stem Cell Research

Human genetics advisory committee established in Australia

Other international news

Centre for Arab Genomic Studies launches genetic data collection

EU project focus

EUMITOCOMBAT: combating OXPHOS disorders

Printo website for families of children with rheumatic disease

Final activity reports from DG SANCO- funded projects on rare diseases

New diseases & syndromes

New diseases and syndromes published on PubMed in April and May 2005

New genes

New genes relevant to rare diseases published on PubMed in May 2005

New clinical research

Industry facilitates disclosure of clinical trial information...

…while journal editors reinforce call for transparency

New service for patient recruitment to clinical research

Clinical research relevant to rare diseases published on PubMed in May 2005

New therapeutic & diagnostic approaches

Therapeutic and diagnostic research relevant to rare diseases published on PubMed in May 2005

New databases

Hellenic National Mutation Database

Genetic testing

Quality Assurance and Proficiency testing for molecular genetic testing: OECD survey

US launches Genetic Testing Quality Control Materials Programme

New registers & surveys

British Paediatric Orphan Lung Disease Registry

Surveillance

EUROCAT: 25 years of European surveillance of congenital anomalies

A new system to study rare disorders of pregnancy launched in UK

Feeling lonely?

DG Research calls for proposals

Funding for genetic disorders in developing and Mediterranean partner countries

National calls for proposals

French Institute for Rare Diseases

International calls for proposals

Grants available from US Immunodeficiency Network

Orphan Drug policy issues

EMEA Workshop on Orphan Medicinal Products for Patients Representatives and Learned Societies

Industry issues White Paper on Orphan Medicinal Products

New designations & authorisations in Europe

April/May 2005

New designations & authorisations in USA

April 2005

Genetic professionals' reports of nondisclosure of genetic risk information within families

Newborn genetic profiling is not yet affordable, says UK report

New European journal on genomics, society and policy

Eurordis update

Eurordis: an expanding community

Guidelines for involving patients' organisations in decision-making processes

Patient representatives ranked as European experts