Edition of 13 March 2007

Orphanet celebrates its 10th anniversary at a conference held on 15 February at the French Ministry of Health

Orphanet held a 1-day conference last month to celebrate its 10th birthday, at which its chief collaborators, healthcare professionals and patients organizations presented their accounts, appreciations and comments on the creation of the European database, its evolution and its current place on the international internet scene. The key players in the Orphanet adventure had all convened at the French Ministry of Health: Members of the 1996 Working Group responsible for Orphanet’s conception, key health politicians, geneticists, physicians, scientists, patients and their support groups, as well as the Orphanet team itself. The day was punctuated by presentations from the major institutions which have supported Orphanet over the years: the French Health Ministry (DGS), the French National Institute for Health and Medical Research (INSERM) and the European Commission, represented by John Ryan from the Commission's Directorate of Public Health and Risk Assessment. All were present to retrace and relive the determining events between 1997 and 2007. Their enthusiastic eye witness accounts and presentations also took into account the difficulties related to the challenge faced by many ten years ago.

Within the initial Working Group set up in 1996 to determine the creation of Orphanet, three exceptional ladies were to play a determining role in the Orphanet venture. The first was Simone Veil, former French minister and first woman President of the European Parliament, famous for her active role in European politics. The second, Annie Wolf of the Mission des Médicaments Orphelins, was just back from a fact-finding mission in the USA where the US Orphan Drug Act had already created orphan drug legislation and where she had met key international figures Abbey Meyers, President of NORD and Marlene Haffner of the FDA. The third grande dame is of course the future Director of Orphanet herself, Ségolène Aymé, who had already been singled out for her expertise and energy as an experienced geneticist in the rare disease field. Together, these three women had a remarkable impact on events moving towards the creation of a totally innovatory European database.

Back then in the France of 1996, the first “Internet militants” were gaining momentum and “Accessibility for All!” was the catchphrase as Orphanet started to take shape. The idea was, and still is, to provide a truly accessible, free electronic information on rare diseases for Europe now in 6 European languages. Ten years on, the Orphanet service is widely regarded as a “model” in its field and is the world’s Number One website on rare diseases and orphan drugs. In spite of a unique “avant-garde” approach, the creation of the project was confronted by many obstacles. Internet was at that time reserved for a limited network of specialists and the concept of a database with open access in several languages seemed somewhat crazy. Times have changed since then, but it was noted that doctors at that time were suspicious about posting up serious medical texts on the Net as this was still considered as “dangerous”!

During the birthday conference, Orphanet appeared first and foremost as a centralising force for information capable of breaking the isolation of both patients and healthcare professionals. Representatives of patients and their families were given the opportunity to speak about the importance of information that is precise, objective and transparent especially when on the bumpy road to diagnosis and specific healthcare. Examples were given through personal accounts of isolated patients whose lives were dramatically improved by Orphanet’s services, sometimes in countries such as Reunion Island, where access to reliable medical information can be limited. Orphanet’s 35 European partners were represented in a particularly lively panel discussion. The partners are coordinated from the Paris headquarters, however various political, economical or social contexts in each of the European partner countries had produced a range of obstacles encountered by the local teams. The Swiss coordinator, Loredana d’Amato-Sizonenko, provided an interesting illustration of this in her own country, where for each national decision made, she has to obtain the authorisation of no fewer than 26 cantons used to communicating in three different languages!

This Birthday event drew to a close with a simple but memorable conclusion: if Orphanet has managed to keep pace with its users’ needs over the past 10 years, it is thanks to the meeting of men and women each with his or her own particular contribution, working towards a common aim: helping patients across Europe living with rare diseases.

Read the Report on 10 years of Orphanet activities (in French only - English version to come shortly)

Read the address of the French Minister of Health (in French only)

The conference was filmed and will soon be webcast by the “U medicine” Channel. Further details will be given soon.

Read highlights of the presentations given at Orphanet’s 10th anniversary:

Introduction on Orphanet's services by Ségolène Aymé
Presentation on Orphanet's Orphan Drug services by Annick Dubosq
Presentation on Orphanet's Health services by Ana Rath
Presentation on Orphanet's Patient services by Marc Hanauer
Presentation on Orphanet's Research services by Valérie Thibaudeau

A new Communication from the Commission for scientific information in the digital age

The dissemination of scientific research results and access to the resulting information is central both to research funding policies and to the overall excellence of European research. Following a major consultative process on this subject by the European Commission involving the chief players from major publishing companies and libraries, learned societies and research-funding organisations, a new Communication was adopted on 14 February this year. This has launched a policy process on access and dissemination with regard to scientific information and strategies for the preservation of scientific information across the EU described by the Commission as “the pillar of the research system”. This policy is emerging at a strategic moment in the EC’s research programme, with a €50 billion FP7 research investment over the 2007-2013 period to develop the European Research Area (ERA). Whilst the Communication has no legal clout, it is expected to lead to important future legislation on this subject, taking on the “open access” issue already hotly debated in all quarters of the scientific information sector.

One of the interesting facts thrown up by the Communication notes that 2 000 scientific journal publishers worldwide, producing some 1.4 million articles a year, approximately 780 of whom are based in the EU, produce nearly 50% of total journal output and employ 36 000 employees in Europe. This large overall workforce directly concerned by the science information sector represents a substantial part of the world market in the sector. The Communication addresses the major debates in this field, including dissemination and access strategies (notably Open Access), publishing business models such as reader-pay and author-pay as well as science publication and its relation to quality of research. Following a public consultation held over several months last year, a set of recent guidelines entitled a Study on the economic and technical evolution of the scientific publication markets in Europe – Final Report January 2006 has provided some essential background to the Communication. In addition, a Conference at the European Commission in Brussels last month looked further into the issues concerned. A multi-functional web-tool called SINAPSE now provides a platform for the scientific publication system debate, aiming to create closer links between scientific advice and policy-making. One of its immediate tasks is to construct a “Yellow Pages” of European scientific expertise.

Read the European Research Council (ERC) Scientific Council Statement on open access (Dec 2006)

Consult the European Commission webpages on Scientific Publications

DG SANCO

Other European news

Steps have been taken to develop a National Plan for Rare Diseases in Spain

On 21 February, the Spanish Senate unanimously approved a Request to the Government to develop an "Action Plan for Rare Diseases", that will be developed in collaboration with the ministries of Health, Social Services, Education, the appropriate scientific societies and FEDER. This Plan requests that the government set up an integral approach to manage rare disease in terms of medical, educative and social assistance for the 3 million persons in Spain affected with rare diseases. The Senate recommends the creation of an organization for rare diseases (OEER), dependent on the National System of Health that will be in charge of the promotion of research, training and recompilation of information in the field of rare diseases. FEDER (The Spanish Association of Rare Diseases Support Groups) evaluated positively this first step in a long road to a National Plan for RD, and expressed its wishes that this plan be supported by a specific budget to fund it.

This initiative is intended to reinforce the Royal Decree approved last November, for establishing the procedures to designate and accreditate Centres of Reference in the Spanish National Health System. A commission has been created and a budget approved to evaluate and designate the type of Reference Centers that would be so necessary for the appropriate management of Rare Diseases. To this date, the public health system is still not covering the real needs of patients affected by rare diseases.

This is one of the 23 conclusions that have been published by the organizers of the "3rd International Congress of Orphan Drugs and Rare Diseases", FEDER and the "Real e Ilustre Colegio Oficial de Farmacéuticos de Sevilla". Some of the conclusions were to propose the creation of a general registry of patients affected by rare diseases, and promote the exchange of information between professionals in primary care and hospital specialists. Several participants in the meeting pointed out the difficulties for clinicians to access orphan drugs and compassionate care, because of their inexperience in the field and because of the administrative problems related to pharmaceutical costs. Much attention was also paid to the creation of centres or reference for a specific group of diseases and the need for help for the families, such as housing the affected people in the cities where the reference centres will be located.

EPPOSI calls for closer patient-science-industry collaboration for innovatory developments

At the recent EPPOSI Conference in Dublin, co-organised with the EC’s DG Enterprise, the EPPOSI co-chairs representing patients, science and industry identified major proposals for improvements in collaboration between the leading players in Europe. The European Platform for Patients’ Organisations, Science and Industry has made the following bids for across-the-board development and innovation through the following actions:

• Closer clinical collaboration and transparency with increased access to therapies
• Simplification of the current treatment development procedure
• Harmonization of reimbursement schemes
• Improved communication about risk
• Greater appreciation of science in human terms

Concerns were expressed about the isolation of industry and regulation often resulting in unnecessary duplication. It was considered that “spectacular savings” could be made if concerted actions were made to avoid duplicated testing and analysis. One of the co-chairs, Erik Tambuyzer, said that clinical development and regulatory approval outgoings were a major source of soaring costs and did not translate into improved benefits for patients. He stressed the importance of “streamlining” the 3 phases of clinical trial to bring costs down and encourage governments and health systems to look more favourably upon new treatments developed.

Alastair Kent, a fellow EPPOSI co-chair, claimed that currently “only 3 out of 10 drugs pay for themselves”. It was time to encourage the players involved to reassess treatments in order to weed out “poorly used or ineffective treatments” thereby lightening the burden of the European reimbursement schemes. Greater harmonisation involving more working in tandem with EU consensus was important to avoid current scenarios by which poorer EU states from Eastern Europe were found to be paying more than their richer neighbours.

The Conference identified that the communication of risk information was crucial. It was more important to “educate patients” about the risks involved in order to accept a very small risk with a treatment (eg based on an established 99.5 success rate) and allow them to decide for themselves, since the enormous costs often involved in the very slight improvement of this risk were prohibitive. Finally, the EPPOSI co-chairs highlighted the general need to put Science higher up on the agenda in terms of human investment, rather than in terms of infrastructure only. An example was given of a taxi-driver in Paris being better paid than a fully trained scientist in the same country.

Read the EPPOSI press release

New diseases & syndromes

New genes

New fundamental research

New clinical research

New therapeutic & diagnostic approaches

Genetic testing

The Orphanet Journal of Rare Diseases : 1 year on already!

Just one year after its creation, the Orphanet Journal of Rare Diseases (OJRD), the first scientific journal entirely dedicated to rare diseases and orphan drugs, has already achieved an impressive track record.

Of its 73 articles submitted to the Journal’s specialist peer reviewers, 55 have been commissioned (giving an overall acceptance ratio of 3:1). The 60 published articles in its first year include the following types of papers: 1 Editorial, 1 original research paper, 2 case studies, 2 case reports and 54 review articles. The Journal gives researchers and clinicians the opportunity to publish state-of-art developments in the rare disease field enabling them to announce new syndromes, orphan drug events and clinical trial results (including those with negative results). Its 37-member Editorial board of prominent experts orients the Journal in its coverage of rare disease-related issues. The past year’s results and proportion of “Highly accessed” articles suggest that the OJRD attracts a wide range of professionals from all medical specialities as well as researchers from scientific fields such as genetics, biology and pharmacology, with a real demand for these review articles.

Some key OJRD statistics:

20% of Review articles written by invited experts have been labelled as “highly accessed”

The OJRD's "Top 10" most highly accessed articles have each been read by 2,000 - 4,700 readers and have already attracted a total 27,000 readers

OJRD’s latest published articles:

Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy (Case Study)
Health status of adults with Short Stature: A comparison with the normal population and one well-known chronic disease (Rheumatoid Arthritis) (Research)
Cardiac tumours in children (Review)
Neonatal diabetes mellitus: a disease linked to multiple mechanisms (Review)

Published in the European Journal of Human Genetics, in association with Orphanet: Sotos syndrome

New designations & authorisations in Europe

Ethics

A cord stem cell storage bank looks likely to open in a UK public-private venture

The UK’s Virgin Group has recently announced its intention to open Britain’s first umbilical cord stem cell storage bank, which it claims could save lives by treating conditions such as leukaemia and certain high-risk medical conditions. The technique will enable parents to store cells from their child’s umbilical cord for at least 20 years. This public-private venture differs from private bloodbank schemes in that only 20% of its biological samples will be kept for the family’s treatment of diseases in the future. The remaining 80% will be donated to public stem cell transplant authorities for immediate use if need be. Apart from a fee of approximately 2,250 euros paid by parents wishing to store the blood, no charge will be made to anyone requiring cellular treatment and able to find a sample providing a match. Virgin undertakes to invest half of all resulting profits to public stem cell research.

Cord blood is rich in haematopoietic stem cells capable of growing and adapting to replace diseased or damaged cells. Bone marrow transplants are increasingly being replaced by cord blood, especially for treating leukaemia, since unlike adult bone marrow, it is untainted by exposure to infection or illness. Scientists claim that blood stem cells will be useful in the treatment of what is becoming known as “regenerative medicine” for diabetes, Parkinson’s disease and cancer but its future is still uncertain at this stage. The procedure is also advised to parents affected by rare and high-risk medical conditions, such as Fanconi anaemia, which may be treated with a transplant. The scheme has been cautiously applauded by the Lancet medical journal and the UK’s Royal College of Obstetricians and Gynaecologists (RCOG), the latter of which has published a RCOG Scientific Advisory Committee Opinion Paper on Cord Blood Banking. However, the RCOG has warned against resulting interference to mother and baby care through the collection of cord blood extracted from the placenta immediately following the birth, at “a critical time”.

This still controversial procedure has found a degree of acceptance in the USA within the private sector. However earlier this year, the American Academy of Pediatrics issued a policy statement on cord blood banking, including recommendations on appropriate ethical and operational standards which are critical of this procedure, in particular when run by private ventures.

DG SANCO

Other European news

New diseases & syndromes

New genes

New fundamental research

New clinical research

New therapeutic & diagnostic approaches

Genetic testing

New designations & authorisations in Europe

Ethics

New books

In March

In May

In June

In July

In September

In October

In November

Orphanet celebrates its 10th anniversary at a conference held on 15 February at the French Ministry of Health

A new Communication from the Commission for scientific information in the digital age

DG SANCO

DG SANCO launches a new Call for Proposals 2007

Other European news

First trans-national Call for Proposals for European research projects on rare diseases

Steps have been taken to develop a National Plan for Rare Diseases in Spain

EPPOSI calls for closer patient-science-industry collaboration for innovatory developments

New Calls for Proposals at the Brocher Foundation

New diseases & syndromes

Anophthalmia associated with malformations of the lungs, the heart, the diaphragm and intellectual deficiency

Severe metabolic disorders associated with a dolichol kinase deficiency in four patients

Ichtyosis and hypotrichosis are associated in a new autosomal recessive syndrome

New genes

Mutations in the SPG11 gene are a major cause of spastic paraplegia marked by agenesis of the corpus callosum

A new X-linked gene associated with the development of Wilms’ tumour

Mutations of the NDUFA1 gene are responsible for X-linked mitochondrial encephalomyopathy

Gene mutations in the cohesin complex are responsible for mild forms of Cornelia de Lange syndrome

ERCC1 mutations associated with the Cerebro-Oculo-Facio-Skeletal Syndrome suggest a new function for this protein

Deregulation of the TAF1 gene in X-linked dystonia and parkinsonism

New fundamental research

Neutral polymorphism prevents the deleterious effect of a mutation associated with MCAD deficiency

Pycnodysostosis : the role of cathepsine K in bone homeostasis

Charcot-Marie-Tooth disease type 1A: effects of an anti-progesterone treatment in adult rats

New clinical research

Aneuploidy detected by the analysis of placental RNA or fetal DNA in maternal plasma

Digenic transmission explains the phenotypical variability in families with hypogonadotrophic hypogonadism

Mutations in the KRAS gene associated with extremely variable clinical signs

Progressive somatic expansion of a GAA triplet-repeat sequence in the ganglia of patients with Friedreich’s ataxia

A new genetic diagnostic test in Usher syndrome

Angelman Syndrome: call for patients

New therapeutic & diagnostic approaches

The genetic expression profile of the donor could indicate risks in developing a graft versus host disease

Genetic testing

MCAD deficiency screening in England reveals some interesting developments in early detection methods

The Orphanet Journal of Rare Diseases : 1 year on already!

Is your project feeling lonely?... Von-Hipple Lindau disease

Seven new positive opinions for orphan designations in February 2007

Results of phase III positive results for Phenoptin®

Alphanate® is approved for Willebrand’s disease in the USA

New designations & authorisations in Europe

The 35th OMP to receive a positive CHMP opinion: Cystadane

Ethics

New ISSCR Guidelines for Human Embryonic Stem Cell Research

A cord stem cell storage bank looks likely to open in a UK public-private venture

Sanfilippo Alliance publishes a White Paper

Call for Patients: Angelman Syndrome

New books

It is MY life - A new Revolution - Patient Power

Post Doc Position in Songbird Neurology at the University of Antwerp

The Genetic Interest Group (GIG) is seeking a Senior Policy and Research Manager, UK

In March

5th International Conference of the European Chromosome 11q Network

European Down Syndrome Association Gala Concert

European Conference on Down Syndrome

In May

EURORDIS 10th Anniversary, Annual membership meeting & Workshop: gaining access to rare disease research resources

6th International IPWSO Conference (Prader Willi International)

In June

European Human Genetics Conference 2007

In July

8th Meeting of the International Skeletal Dysplasia Society

In September

European Conference on Rare Disease Research

16th ESGLD - European Study Group on Lysosomal Diseases

In October

8th EPPOSI Partnering Workshop on Orphan Drugs

30th Annual meeting of the Society of Craniofacial Genetics

In November

4th European Conference on Rare Diseases (ECRD 2007)