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Happy New Year
We take this opportunity to wish all our readers a very happy and productive 2006 and to thank all those who contributed to OrphaNews Europe and the Rare Diseases Task Force in 2005. We look forward to an equally fruitful collaboration this year!
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Deadline for submissions
We welcome your contributions to OrphaNews Europe.
Please send your ideas for articles by contacting the editor
here.
The next edition will appear in mid-February.
Deadline for the next edition is
10 February 2006.
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Working groups
Public health indicators expert group meeting this month
A reminder that the second RDTF working group, dedicated to Public Health Indicators for rare diseases, will be meeting for the first time on 30 January 2006, in Paris. The group, led by Juliette Bloch of the French national institute for public health surveillance (InVS) will discuss the selection of rare diseases with high priority for epidemiological surveillance. The group will also determine the definition of rare diseases that can be identified in mortality certificates and develop a European-level feasibility study for using mortality data as public heath indicators.
DG SANCO
Public health portal launching in April
The European Commission plans to launch its public health portal by the end of April, 2006. Available in the 20 official EU languages, Health EU will be customized to meet the needs of both health professional stakeholders and the general public, providing a single venue to reliable and accessible information. Health EU will complement the existing Commission Public Health website and will be available via Europa the Gateway to the European Union. As part of the Community Public Health Programme 2003-2008, an important goal of the portal is to convey the notion that citizens are jointly responsible for caring for and improving their health. A major aim is to produce comparable information on health issues, including rare diseases, with the goal of improving the quality and management of information by facilitating the exchange of data.
EMEA
Fee reduction statement issued for orphan medical products
On 9 January, The European Medicines Agency (EMEA) issued a public statement concerning the revision of fee reductions for designated orphan medical products. Effective in 2006, the fee reduction for inspections has been increased from 50% to 100%. The 100% fee reduction for protocol assistance and 50% reduction for marketing authorisation application are maintained while the level of benefit following marketing authorisation remains the same but has been limited to the first year, the average time needed to place a medicinal product on the market. Small- and medium-sized enterprises may be exempt where long-term and sustained support is deemed necessary.
SAWP deadlines and guidance published
The EMEA has posted the dates for its upcoming 2006 Scientific Advice Working Party (SAWP) meetings and deadlines for scientific advice or protocol assistance request submissions.
The EMEA has also published an updated guidance for companies seeking protocol assistance and scientific advice. The guidance provides instructions for procedures to follow to request advice and assistance from the EMEA and outlines the scope of assistance and advice available. It allows companies to submit requests conforming to CHMP requirements which can thus be more efficiently evaluated and validated. New sections in the guidance include how to discuss early research and development issues with the EMEA, how to approach the EMEA for companies developing innovative emerging therapies, the possibility of approaching the EMEA and the FDA simultaneously, and important fee procedural changes (see the December OrphaNews newsletter). The guidance will be updated regularly to include new developments. Specific queries can be addressed to the EMEA’s General Scientific Advice Inbox.
http://www.emea.eu.int/pdfs/human/sciadvice/426001en.pdf
Patient group criteria to participate in EMEA activities
The (EMEA) has adopted criteria for patient organisations to fulfil in order to participate in EMEA activities, produced by the EMEA/CPMP Working Group for Patients’ Organisations, which defines patient organisations as non-profit entities that are patient-focused and include a majority of patients or caregivers. The criteria include legitimacy of the organisation in terms of membership base; transparency of its missions and objectives; documented activities in the area of medicinal products; representation of patients at the EU level; the election by members of governing bodies; and overall transparency of processes, sources of funding, and activities undertaken. Patient organisations should also be committed to actively interacting with the EMEA. While preference is given to European-wide organisations, national groups can be considered when there is no corresponding European-level organisation. Ultimately, the criteria help determine which organisations have a legitimate role in EMEA decision-making processes and promote the general quality of patient organisations. A questionnaire, produced by the EMEA for patient organisations, permits the EMEA to evaluate the eligibility of a particular group.
Orphan medicines status report released
The EMEA released its latest status report in December 2005. Since April 2000, 532 total applications for orphan medicines have been received, for which COMP issued 345 positive opinions, and the European Commission issued 325 designation decisions.
Other European news
Poland’s very first conference on rare diseases: a PERFECT success
The first Polish workshop on rare diseases, addressing medical, legal, ethical, and economic aspects of rare disease health care, was held in Warsaw on Friday, 16 December 2005. Organized by EU project (QLG1-CT-2002-90358) – the CoE PERFECT workshop was affiliated with the Children’s Memorial Health Institute (CMHI), the largest paediatric research centre and hospital for children with chronic, severe and rare diseases in Poland.
Some 200 participants took part, including representatives from government, public insurance and pharmaceutical companies, paediatric hospital directors, public health specialists, and paediatricians involved mostly in metabolic medicine and clinical genetics.
Invited lecturers, divided into panels focusing on medical, legal & ethical, and economic issues, spoke on the issue of providing appropriate health service for children with rare disorders - achievements, difficulties, and future improvements in Poland and Europe. During the medical panel, Ségolène Aymé (Orphanet, France), in her lecture on Rare disease action plans in Europe, presented various research programmes and projects in Europe, such as Orphanet and the French National Plan for Rare Diseases. She proposed practical ways in which Poland could be included in the European cooperation and network of research on rare disorders, such as joining Orphanet, which Poland has done. Other lectures were on The Polish registry of congenital malformation as a tool for rare disease identification by Anna Latos-Bielenska, Eurocat Poland), and the Polish experience in enzymatic replacement therapy (Anna Tylki-Szymanska, CMHI).
For the ethical/legal panel, Jordi Llinares Garcia (EMEA) presented a lecture on Orphan medical products – registration procedure, safety issues. Marian Filar (Torun, Poland) stated in his lecture on Law-abiding medical personnel: an issue of limited services, negligence that doctors are almost solely responsible for the appropriate management delivered to patients with rare disorders. There were also lectures on Medical products for paediatric use - new EU regulation (Marek Migdal, CMHI); Which industry-sponsored paediatric research programs can be expected to be triggered by the EU paediatric regulation? (Klaus Rose, Hoffman-La Roche, Switzerland; and Ethical conduct of clinical research involving children (Bogumila Milewska-Bobula, CMHI).
The economics panel included lectures on Cost, benefits, and effectiveness of rare disease diagnostic programmes and treatment – Polish experiences (Zbigniew Kulaga, CMHI); Priority setting in health care policy: how should rare diseases be treated with limited sources? (Krzysztof Landa, Krakow, Poland); and Publicly founded health care provisions – hard decisions facing the politicians (Jacek Ruszkowski, Warsaw, Poland). The last session of the conference was an interactive presentation entitled, Can we afford rare disease treatment? The session was chaired by Maciej Piróg, Director of The Children’s Memorial Health Institute. Discussion was led by Richard Grenda (CMHI). Two presenters, Marek Migdał and Zbigniew Kulaga, discussed health care financing issues, with special focus on rare diseases.
The audience had the opportunity to vote on questions posed by Professor Grenda after an exchange of data and views by presenters. Concerning the financing of health care in Poland, the majority of the audience voted for increased funding (some even suggested the EU average as the necessary level of health care financing in Poland).
Next, the definition of rare diseases was discussed: different definitions in different parts of the world add confusion to the subject of rare diseases; furthermore, some illnesses, which are not regarded as rare diseases (e.g., malaria in Europe) do fulfill criteria for rare disease definition. The audience voted for an ultra-rare disease definition (such as is used in the UK) as more precise and better reflecting the character of rare diseases.
Subsequently, the issue of accepting treatments not conforming with Evidence-Based Medicine was discussed. Lack of data (and evidence) on efficacy and safety from sufficiently big populations and observations is a major limitation. The audience, however, voted for continuing treatments with pharmaceutical products which were accepted after studies with a limited number of patients.
Almost half of the audience voted for some kind of economic assessment of interventions in the area of rare diseases, which, in turn, is in line with the view that health outcomes (regardless of frequency of disease) be valued equally. The audience expressed the view that rare disease treatment should be financed via the state budget and that resources should be increased in Poland, yet it was agreed (52% of votes) that it is not ethical to allocate huge resources (especially with a limited budget) to interventions for which positive results have not yet been established (29% voted this as ethical; 19% answered “I don’t know”).
Overall, the workshop was considered an important and successful contribution to improving the organisation of rare disorder management in Poland.
For more information, contact CoE PERFECT Coordinator, Professor Ewa Pronicka
Orphanet-Italia publication released
After four busy years of data implementation and management, Orphanet-Italia has achieved its most important goal with the publication of the Italian version of the Orphanet compendium, Annuario Orphanet-Italia delle malattie rare 2005. Italy is the second country within the Orphanet network to successfully conclude this goal. The publication was made possible with the generous support of Farmindustria (the Italian association of pharmaceutical companies) which sponsored the printing and distribution of the first 10,000 copies of the book.
The directory was presented by Professor Bruno Dallapiccola, director of the Orphanet-Italia project, at a press conference at the CSS-Mendel Institute on December 14, 2005, where Orphanet-Italia is located. Dr Cesare Cursi, secretary of the Italian Ministry of Health, Dr Sergio Dompé, president of Farmindustria, and Renza Barbon Galluppi, president of UNIAMO (the Italian Federation of Rare Diseases Associations), contributed to the discussion following the presentation. Several Italian press agencies and television stations publicized the event.
The book provides a summary of the on-line database, updated through July 31, 2005, and contains detailed information on services dedicated to rare diseases in Italy including: 1151 abstracts of rare diseases, 2300 diagnostic tests, 198 diagnostic laboratories, 294 on-going research projects concerning over 430 rare diseases, 920 health professionals, 261 outpatient clinics, 31 patients’ registries, 7 networks dedicated to rare diseases, and 165 patient support groups.
This first edition of the Orphanet-Italia handbook summarises the efforts of a nine-person team and demonstrates the growing scientific and cultural awareness for rare diseases in Italy.
The Orphanet database and publication contribute much to the management of rare diseases. Patients suffering from a rare disease and their families will feel less orphaned with this resource help them representatives or appropriate reference centres. Health professionals can access information to manage patients, and the media will have validated and quality data available. The Orphanet-Italia compendium thus contributes to the improvement of information circulation and awakens public opinion to the priority of rare diseases as a public health concern.
French Minister of Health visits Rare Disease Platform
Mr. Xavier Bertrand, the French Minister of Health, paid a visit to the Rare Disease Platform in early January. France is unique amongst its European neighbours in that a platform of five major rare disease associations are housed at the same location. The platform, including Orphanet, Eurodis, the Institute of Rare Diseases, Rare Disease Info Services and the French Rare Disease Alliance, benefits from the close proximity to share information and services and cultivate a sense of mutuality.
Other international news
Pilot program for genetic test development launched
In the US, the Office of Rare Diseases has established a pilot program to promote new genetic test development and a better understanding of rare genetic diseases. The Collaboration, Education and Test Translation Program, (CETT) with input from the Trans-NIH Rare Diseases Working Group, federal agencies, professional associations, advocacy groups and others, will develop models designed to facilitate the translation of genetic tests from research laboratories to clinical practice.
US orphan grant program makes changes
The Food and Drug Administration (FDA) has announced changes to its Office of Orphan Development (OPD) grant program for fiscal years 2007 and 2008. There is now only one receipt date for each fiscal year. 15 March, 2006 is the receipt date for FY2007 applications. The other major change is the option to file electronically.
FDA fêtes its 100th birthday
The FDA also has announced a series of events to celebrate its one hundredth anniversary this year. The events aim to note the role of the FDA in promoting and protecting health, inspire future efforts to advance science, attract new generations of scientists, and salute the contributions of FDA workers and collaborators. In 1983, the Orphan Drug Act was passed, enabling the FDA to promote the research and marketing of drugs needed for treating rare diseases.
EU project focus
RegiSCAR
A European registry of severe cutaneous adverse reactions to drugs and a collection of biological samples
Severe cutaneous adverse reactions (SCAR) are rare, life-threatening conditions that can affect adults and children. Amongst such conditions are toxic epidermal necrolysis (TEN), Stevens-Johnson syndrome (SJS), acute generalized exanthematous pustulosis (AGEP) and hypersensitivity syndrome (HSS) / drug reaction with eosinophilia and systemic symptoms (DRESS). Mortality rates are considered high (about 45% for TEN) and patients who survive SCAR are often left with sequelae such as hypo- or hyper-pigmentation of the skin, hair and nail loss, strictures of mucous membranes and, long lasting eye problems, sometimes leading to blindness.
The RegiSCAR project, a three-year endeavor involving six European countries, ran from 1 September 2002 – 31 August 2005 and produced the world’s largest cohort of patients with SCAR to date, with biological samples obtained for the majority of cases. RegiSCAR evolved from EuroSCAR, a case-control study on SCAR (1997-2002) performed by the same clinical partners who are now cooperating in RegiSCAR. In addition, the German registry on severe skin reactions, operating since 1990, provided helpful information for setting up RegiSCAR. Funding of 1,000,000 Euros for the three-year RegiSCAR project was provided by the EC (contract QLG1-CT-2002-01738), other research grants and various pharmaceutical companies.
RegiSCAR objectives included constructing a European Registry of SCAR in order to monitor new drugs with appropriate pharmacoepidemiology methodology and to provide relevant reference information, organise a centralised biological sample collection to permit high-quality pharmacogenetic investigations, and to gather a cohort of 300 patients to study SCAR prognosis, outcome, sequelae, and quality-of-life impact. All biological samples were sent to a specialized blood bank in Paris, France for centralized storing. The samples are used for genetic and immunological investigations of adverse reactions to drugs.
Specifically, in the three-year study period, 708 potential SCAR cases were ascertained in participating countries. 502 SJS/TEN, 99 AGEP, 94 HSS/DRESS and 13 cases resembling overlap SCAR conditions. At the time of the April 2005 review, the breakdown of SCAR cases was as follows:
For SJS/TEN, 502 cases were ascertained, of which 285 were validated as definite, 40 as probable, and 14 as possible. 260 follow-up investigations were conducted for the definite and probable cases at 8 +/-2 weeks, and 51 of the cases deemed definite and probable completed the 1-year follow-up. Blood samples were obtained for 323 definite and probable cases.
Of the 99 ascertained AGEP cases, 23 were deemed definite, 29 probable, and 22 possible. Blood samples were obtained for 52 definite and probable cases.
One of the objectives of RegiSCAR was to determine the definition and validation score for HSS/DRESS. To this end, cases were reviewed carefully and repeatedly. During the April 2005 review, the final score was established, allowing for final review of cases at the following RegiSCAR meeting. Blood samples for 98 potential cases were obtained.
A post-funding meeting took place between 30 November and 4 December 2005. All AGEP and HSS/DRESS cases were reviewed and the data centre is finalising a descriptive analysis for these cases.
OrphaNews Europe had the opportunity to ask Freiburg, Germany-based project coordinator Dr. Maja Mockenhaupt to reply to some follow-up questions concerning the RegiSCAR project. Here are her answers:
OrphaNews Europe: When and where will a definitive report of the RegiSCAR project results be available?
MM: There will probably be two different reports: a confidential one for the EC, comprising all the information on case numbers obtained during the EC-funded time of the project. A scientific publication on specific data will take more time, since a lot of data checks have to be done before statistical analysis is performed.
OrphaNews Europe: Were you satisfied with the outcome of the project and do you feel the initial objectives were fulfilled?
MM: In retrospective, I have to admit that our project was very ambitious and it took enormous efforts to meet the aims we had defined for our group. Yet, in general I am satisfied with the outcome of the project, since we managed to fulfil the initial objectives.
However, it must be acknowledged that most research grants that can be obtained in the various European countries cooperating on the issue of SCAR are limited to a short time period. Everybody tells us that a study like this should be indefinite and that ongoing surveillance is needed in the future in order to identify new drugs with a high risk for SCAR and to find better ways of treatment. Nevertheless, nobody is ready to provide basic funding to maintain case ascertainment and blood sampling. If researchers, especially the leaders of the clinical teams, spend most of their time on fund raising and collecting small amounts of money to keep the project alive, scientific work is reduced in time and delayed over the years.
Read the full interview with Dr. Maja Mockenhaupt
New diseases & syndromes
New diseases and syndromes on PubMed in December 2005 and January 2006
Description of a new syndrome: auricular abnormalities and cleft lip in two sibs, in association with cleft palate and unusual opthalmological findings
Clinical Dysmorphology ; 33-35 ; January 2006
Autologous peripheral blood stem cell transplantation for POEMS syndrome
Neurology ; 105-07 ; January 10, 2006
New genes
New rare disease genes published on PubMed in December 2005
The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone
Nature Genetics ; 1309-1311 ; December 2005
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
J Med Genet. ; 907-912 ; December 2005
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
Nature Genetics ; 1345-50 ; December 2005
New clinical research
New clinical trials and research on Orphanet
Phase I, 3 days schedule clinical trial administring Topotect (dexrazoxane) in combination with Etoposide in the treatment of patients with primary or secondary solid brain tumor
An international multi-centre trial
A randomised, placebo-controlled, double-blind phase III study of the efficacy and safety of recombinant human C1 inhibitor (rhCINH) for the treatment of acute attacks (Pharming C1 1304-01)
An international multi-centre trial
Gentamycin treatment of congenital coagulation factor VII or factor IX deficiency caused by nonsense mutations
To register your interest in participating in a clinical trial visit Orphanet.
New clinical research published on PubMed in December 2005/January 2006
Pegylated interferon for the treatment of high risk essential thrombocythemia: results of a phase II study
Haematologica ; 1333-8 ; October 2005
Fascioscapulohumeral muscular dystrophy: a progressive degenerative disease that responds to diltiazem
Med Hypotheses ; 716-21 ; Volume 65 2005
New therapeutic & diagnostic approaches
New therapeutic & diagnostic approaches published on PubMed in December 2005/January 2006
Safety and Efficacy of AAV-Mediated Calpain 3 Gene Transfer in a Mouse Model of Limb-Girdle Muscular Dystrophy Type 2A
Molecular Therapy ; Epub ahead of print ; 12 November, 2005
An animal model for Charcot-Marie-Tooth disease type 4B1
Hum Mol Genet ; 3685-95 ; 1 December, 2005
Plasmid electrotransfer of eye ciliary muscle: principles and therapeutic efficacy using hTNF-alpha soluble receptor in uveitis
FASEB ; Epub ahead of print ; 13 December, 2005
Global natural regulatory T cell depletion in active systemic lupus erythematosus
J Immunol ; 8392-400 ; 15 December 2005
Defective planar cell polarity in polycystic kidney disease
Nature Genetics ; 21-3 ; January 2006
A trial of contraceptive methods in women with systemic lupus erythematosus
N Engl J Med ; 2539-49 ; 15 December 2005
Combined oral contraceptives in women with systemic lupus erythematosus
N Engl J Med ; 2550-8 ; 15 December 2005
Therapy Insight: pyoderma gangrenosum-old disease, new management
Nat Clin Pract Gastroenterol Hepatol ; 587-94 ; December 2005
Transgenic rabbits with increased VEGF expression develop hemangiomas in the liver: a new model for Kasabach-Merritt syndrome
Lab Invest ; 1517-1527 ; December 2005
Multiple mutations in mouse Chd7 provide models for CHARGE syndrome
Human Molecular Genetics ; 3463-76 ; November 2005
Prevention of graft-versus-host disease by a novel immunosuppressant, (5R)-5-hydroxytriptolide (LLDT-8), through expansion of regulatory T cells
International Immunopharmacology ; 1904-13 ; December 2005
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing
Clin Genet. ; 506-512 ; December 2005
Surveillance
EUROCAT updates NTD rates, surveys support groups
EUROCAT, the European network of population-based registries for the epidemiologic surveillance of congenital anomalies, surveys more than 1.5 million births per year and has 43 registries in 20 countries. With 29% of the European birth population covered, Eurocat is comprised of high-quality multiple source registries, ascertaining terminations of pregnancy as well as births. Recently, EUROCAT updated its report on neural tube defects (NTD) rates in 18 European countries in the context of folic acid policy and practices. The report, available on the EUROCAT website, demonstrates that more countries have begun issuing advice to women to take periconceptional folic acid. No country has yet introduced mandatory fortification of food with folic acid, however, although the policy is being advised in several countries. The decline rate in NTD remains disappointing.
EUROCAT this month sent a questionnaire to European spina bifida support groups, eliciting their opinion on mandatory food fortification with folic acid and inquiring as to any campaigning they may be conducting on this issue. A major effort has been made in Italy, where the Network for the Promotion of Folic Acid for the Prevention of Congenital Defects has been established and is very active. EUROCAT members in many other European countries have highlighted the topic in journals specific to their countries.
New designations & authorisations in Europe
COMP orphan drug designations in January 2006
At its meeting on 10-11 January 2006, the EMEA’s committee for Orphan Medicinal Products (COMP) adopted 9 positive opinions on orphan designation for medicinal products for the following indications:
26 base single stranded phosphodiester DNA oligonucleotide for treatment of pancreatic cancer
26 base single stranded phosphodiester DNA oligonucleotide for treatment of renal cell carcinoma
2'-O-methyl-phosphorothioate oligonucleotide for treatment of Duchenne muscular dystrophy
4-amino-5-oxo-4 (pyridinium-1-ylmethyl) proline for treatment of renal cell carcinoma
Alpha 1 - proteinase inhibitor for treatment of emphysema secondary to congenital alpha 1 - antitrypsin deficiency
Apomorphine hydrochloride (inhalation use), from for treatment of off-periods in Parkinson’s disease not responding to oral treatment
Miglustat for treatment of Niemann-Pick disease, type C
Oxalobacter formigenes strain HC-1 for treatment of primary hyperoxaluria
Zosuquidar trihydrochloride for treatment of acute myeloid leukaemia
EMEA COMP opinions in January 2006
The CHMP adopted a positive opinion on initial marketing authorisation application for Neupro (rotigotine), indicated for the treatment of idiopathic Parkinson’s disease.
EMEA CHMP opinions in January 2006
Details of all orphan designations and authorisations granted to date by the European Commission are entered in the Community Register of Orphan Medicinal Products
Marketing authorisation requested for Hunter’s syndrome treatment
British pharmaceutical firm Shire plc has submitted an authorisation application with both the EMEA and the FDA to market idursulfase for the treatment of mucopolysaccharidosis type II, more commonly known as Hunter’s syndrome. If approved, the treatment would be the first human enzyme replacement therapy for the disease and could be available at the end of the year. Idursulfase was designated as an orphan medicine in Europe and the US in 2001.
To read more about mucopolysaccharidosis type II
Narcolepsy treatment launched in Germany
Belgium-based UCB Group announced the availability of Xyrem (sodium oxybate) in Germany for the treatment of cataplexy in adult patients with narcolepsy, following EMEA approval in June 2005. Sodium oxybate received EMEA orphan designation in February 2003. Distribution to other European countries is expected throughout 2006.
To read more about cataplexy and narcolepsy
New designations & authorisations in USA
FDA approves first immune globulin product for PIDD
The Food and Drug Administration (FDA) has announced the approval of the first immune globulin product for subcutaneous injection for the prevention of serious infections in patients with Primary Immune Deficiency Diseases (PIDD) in the United States. Vivaglobin, which can be self-administered at home by patients, provides new delivery options for PIDD patients. Other immune globulin products are administered either intravenously or intramuscularly.
http://www.fda.gov/bbs/topics/news/2006/NEW01294.html
FDA approves lenalidomide for myelodysplastic syndrome
The FDA has also approved the drug Revlimid (lenalidomide) for the treatment of patients with a subtype of myelodysplastic syndrome (MDS). Lenalidomide is structurally similar to thalidomide, known to cause severe birth defects. Thus, Revlimid will be marketed under a risk management plan designed to prevent fetal exposure. The FDA and manufacturer Celgene Corporation will re-evaluate the risk management plan when results of further animal testing for birth defects are completed.
http://www.fda.gov/bbs/topics/news/2005/NEW01289.html
A new book demonstrates the power of patient groups
It is my body: Patient Power, a new revolution, published last month in The Netherlands by the Dutch Genetic Alliance (VSOP), was written by a science journalist who received a small research grant to investigate the role of patients in research and drug development.
On 13 December, 2005, Ysbrand Poortman, founder of the Dutch Genetic Alliance (VSOP) presented the first edition of the book to the Dutch Minister of Health, Hans Hoogervorst, who expressed his appreciation for the work of patient organisations. The Dutch government’s policy is to strengthen patient participation: “Patient organisations have great expertise concerning their diseases and can play an important role in therapy development and disease management. Especially with rare diseases, patient organisations can play a big role. International cooperation between the patient organizations, on the one hand, and science and industry on the other, is therefore necessary”.
The book contains interviews with eight patient leaders, all of whom have contributed to R&D in rare diseases. The stories describe how they manage their own lives and guide other patients by founding organisations and contributing to the drug development process for their diseases. In one case, a biotechnology firm was started when the patient organisation became owner of the patent of the gene in question. Interviewees include Cees Smit (The Netherlands), Patrick Terry (U.S.), Tsveta Schyns (Austria), Maryse Schoneveld (The Netherlands) and Michael Griffith (Ireland). Their portraits demonstrate how patients are serious partners in the dialogue between politicians, researchers and industry and the importance of the role of the ‘expert patient’.
The publication is further evidence of the rapidly increasing, highly committed and pro-active role of patient organisations in the process of developing treatments.
The English edition of “Het is mijn lijf” is expected to be published shortly.
ISBN 90-5911-143-5 (Dutch version).
Ring 14 International protocol study
Scientists working with Italy-based Ring 14 International, the only patient association specifically for Ring 14 chromosomal anomalies, are launching a clinical and instrumental protocol study this month to investigate Ring 14 syndrome with the aim of refining knowledge of the syndrome to manage treatment more effectively. The patient group is also organising the first international conference on chromosome 14 aberrations, planned for October 2006. Details will be available on the group’s website in February.
11q Network redesigns its website
The European Chromosome 11q Network has redesigned its website. The new format, launched in early January of this year, was designed by the father and uncle of an 11q child. The new design provides easily accessible information in seven European languages.
Eurordis update
Highlights from the Eurodis newsletter
The January issue of the Eurodis newsletter presents a feature on the
German Alliance for Chronic Rare Diseases (ACHSE).
Eurordis Membership Meeting & Rare Disease Conference 2006
Eurordis Membership Meeting & Rare Disease Conference 2006
has Centres of Reference as its theme. Hosted by ACHSE, the German rare disease alliance, events include workshops for patient organisation representatives on Centres of Reference: The patients’ experience and Patient Registries: Comparing different systems
Dates: 5-6 May 2006
Venue: Berlin, Germany
http://www.eurordis.org/article.php3?id_article=784
New books
An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases
Author: J. J. Pasternak
Published by Wiley-Liss, May 2005
Genetics of Developmental Disabilities
Authors: Merlin G. Butler and F. John Meaney
Published by Taylor & Francis Group, April 2005
Human Embryonic Stem Cells
Authors: J. Odorico, S. Zhang, R. Pedersen
Published by BIO Scientific Publishing, February 2005
Mental Retardation And Developmental Delay: Genetic And Epigenetic Factors
Author: Moyra Smith
Published by Oxford University Press, January 2006
Molecular Mechanisms of Cardiac Hypertrophy and Failure
Authors: Richard A. Walsh, Michael Schneider, Stephen Vatner
Published by Taylor & Francis Group, September 2005
NPY Family of Peptides in Neurobiology, Cardiovascular and Metabolic Disorders: from Genes to Therapeutics
Authors: Z. Zukowska, G. Z. Feuerstein
Published by Springer-Verlag, December, 2005
Practical Preimplantation Genetic Diagnosis
Yury Verlinsky and Anver Kuliev
Published by Springer-Verlag, September 2005
Press cuttings
Potential Interactions of the Orphan Drug Act and Pharmacogenomics: A Flood of Orphan Drugs and Abuses?
David Loughnot in American Journal of Law & Medicine 31 365-380 (2005)
In February
International Symposium on Human Genomics and Public Health
Held in association with the XXXI Annual Conference of the Indian Society of Human Genetics, this event will address different ways in which a human genomics approach can be used to help understanding in system biology and to address public health concerns.
Date : 27 February-01 March, 2006
Venue: New Delhi, India
http://www.ncahg.org/meet/index.html
In March
18th Annual Drug Information Association Euromeeting
The 2006 Programme will address the challenges of the revised Pharmaceutical Legislation, which is the driving force for review of all aspects of regulatory achievement and will provide an opportunity to discuss the latest developments in important European initiatives, including paediatrics, advanced therapies, the technology platform, pharmacogenomics, pharmacovigilance and risk management planning.
Date: 6-8 March 2006
Venue: Paris, France
http://www.diahome.org/Content/Events/06101.pdf
International Plasma Protein Congress (IPPC)
The programme will provide updates and perspectives on the latest issues affecting and changing the plasma protein therapeutics industry, as well as on future developments.
Date: 7-8 March 2006
Venue: Prague, Czech Republic
http://www.ippc2006.com/
In April
International HS Research Symposium
The Hidradenitis Suppurativa Foundation’s first international research symposium has the theme of “Directions 2006: Developing a global roadmap for HS research”.
Date: 31 March – 02 April 2006
Venue: Dessau, Germany
http://hs-foundation.org/international/international.htm
In May
1st International Education Conference on Batten Disease
Leading researchers and practitioners from all around the world working in the field of Batten Disease (also called juvenile neural ceroid lipofuscinosis or Spielmeyer-Vogt Disease) will present the state of the art and discuss critical issues related to people with Batten disease.
Date: 3-6 May 2006
Venue: Örebro, Sweden
http://www.battenconference.com/
38th European Human Genetics Conference (EHGC)
Organised in conjunction with the European meeting on the psychosocial aspects of genetics.
Date: 6-9 May 2006
Venue: Amsterdam, The Netherlands
http://www.eshg.org/eshg2006/
In July
12th International Scientific Meeting of the Velo-cardio-facial Syndrome Educational Foundation
Organised by French association GENERATION 22, this congress unites professionals and families from Europe, Canada and the United States.
Date: 7-9 July, 2006
Venue: Strasbourg, France
http://www.generation22.asso.fr/
In August
11th International Congress of Human Genetics
Held every five years, the 11th International Congress of Human Genetics is organised on behalf of the International Federation of Human Genetics Societies, and will be hosted by the Human Genetics Society of Australasia.
Date: 6-10 August 2006
Venue: Brisbane (Australia)
http://www.ichg2006.com/
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24 January 2006
