21 December 2006 print
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A Communication on Rare Diseases in preparation at the EU level
The European Commission, DG SANCO, was requested by the Council of Ministers to prepare a Communication on rare diseases during the first semester of 2007. This Communication is expected to be submitted to the European Parliament and the Council of Ministers during the second semester for possible adoption at the end of 2007. This is a decisive step to set the European scene in the field of rare disease research and management.
Rare diseases are definitely considered to be a major health issue: a welcome Christmas gift for the rare disease community!



6th Rare Disease Task Force Meeting - 14 December in Luxembourg
Here is the Agenda for the 6th Rare Disease Task Force meeting held on 14 December in Luxembourg.

Consult the RDTF Meeting Agenda



Clinigene, an EC Network of Excellence
A major newcomer to the European gene therapy sector made an important appearance at this year's European Society for Gene & Cell Therapy Annual Meeting in Athens last month. Clinigene, a Network of Excellence funded by the EC (Framework Programme 6, contract number LSHB-CT-2006-018933), provides an “umbrella” coordination fostering the advancement of clinical gene transfer and therapy activities in Europe. The objective is to develop a new European scientific institute in the field of gene therapy (GT). It has been developing a major network of pan-European experts over the past 2 years, taking over from where the Commission’s DG Research FP4 & FP5 “Euregenethy 1 & 2 networks,” left off. These two programmes were led by Dr Odile Cohen-Haguenauer, founder of the European Society of Gene Therapy, now acting as the Clinigene-NoE coordinator. Now the results of Clinigene’s work in multi-disciplinary integrated research and coordination of GT developments are paying off as their databases are now visibly opening up the fruits of their findings to the public on the Clinigene portal.

So what is gene therapy? It is an approach to treating diseases by correcting defective genes responsible for the development of diseases. Many different diseases are now being investigated as potential gene therapy candidates are using DNA instead of a drug. They include cystic fibrosis, cardiovascular disease, infectious diseases such as AIDS and cancer. The first successful case of GT performed on humans took place in 1990, on a 4-year-old treated for adenosine deaminase (ADA) deficiency, a rare genetic disease in which children are born with severe immuno-deficiency and a tendency to repeated serious infections.

Besides setting up network interaction between the interested parties: academia, industry, regulatory bodies, clinical trials & patients’ groups networking in Europe, Clinigene also plays a key role in providing information on the regulatory framework and promoting the ethical debate essential for GT actions to reach broader acceptance and develop significant results. Strict quality control and validation and safety regulation are essential. Clinigene will help develop reference standards in the event where these are currently missing. With a robust structure including six different technology platforms each dedicated to a distinct gene transfer vector system and led by a top scientist in the area, safety profile databases for various vectors will be established over time. Clinigene’s activities also include a user-friendly data-base of reference publications in the field with a tailored search engine enabling quick access to key information (ie regulation, safety and ethics of gene therapy in Europe) and for further reading in key GT subjects. Training courses are already up and will soon be running and a free online GT newsletter, the Clinigene Current Gene Therapy Weekly , provides abstracts of the latest scientific articles on GT issues which have appeared in the past week.

Now Clinigene is creating a partnership with Orphanet which promises to open up new channels of information to professionals and patients through combined databases on common-ground clinical trials in rare diseases taking place in Europe. OrphaNews Europe spoke to Professor Bernd Gansbacher, a member of the Clinigene Executive Committee, Professor at the Institute of Experimental Oncology, Technical University of Munich, Germany, in charge of this workpackage inside the broad Clinigene project.




OrphaNews: What is the thought process behind the creation of Clinigene?

BG: Clinigene’s major goal is to open up European-wide channels of technology and information exchanges between professionals working in the gene technology field and further expanding to a broader public at large. Our technology can be used for treating rare genetic diseases. European Researchers and scientists need to move more freely between the different Member States, between cities where cutting edge technologies are being developed and relevant facilities are based. These resources might not need to be duplicated in every country and Clinigene will streamline the sharing of facilities in common, sparing money and efforts. This is the key to becoming a great European force, scientifically, as well as politically and economically.

Quality and safety procedures should be the same whether you live in Italy or in France. It is essential to standardize this mobility-for-technology procedure. Key staff members should have this opportunity to acquire technology competence in different countries.

Other key thoughts leading to Clinigene’s creation include our observation that since academia and industry here in Europe are living in totally far-flung parts of the world, ideas need to be generated and transformed into medicinal products destined for market use to help patients with RD’s as well as others. Clinigene therefore has complementary aims: to improve information channels between academia and industry and improve awareness of this very complex field of gene transfer technology.

OrphaNews: The Clinigene-Orphanet collaboration is now underway. What does this partnership hope to achieve?

BG: There seems to be a good deal of common ground to be developed between the two databases. Odile Cohen-Haguenauer has been setting up our own Clinigene clinical trials database & Gene Therapy and Transfer selected references interactive database to enable people to inform themselves online about where gene therapy is available. Our hope now is that, together with Orphanet, we can pool our information resources in order to provide an efficient and user-friendly European public service for RD clinical trials, projects and research.

Contact Clinigene with suggestions (additional trials, corrections of existing classified trials, etc.)
(Click on mailbox icon)



Opinion Paper on the Current Status of the Regulation of Gene Therapy in Europe
O. Cohen Hagenauer, Felicia Rosenthal, B. Gansbacher, et al. (2002)
(Hum Gene Ther. 2002 Nov 20;13(17):2085-110)

Ethics in EU Projects

US Guidelines: NIH Guidance for informed consent for gene transfer research



Implementation of the European Tissues and Cells Directive: the EC adopts 2nd set of technical rules
The 2nd set of technical rules implementing the European Tissues and Cells Directive (Directive 2004/23/EC) has been adopted by the EC (Commission Directive 2006/86/EC). This new Directive now tackles the processing, preservation, storage and distribution of tissues and cells intended for human application. In February this year, the 1st set of technical rules (Commission Directive 2006/17/EC) was published, setting out rules for the donation, procurement and testing of tissues and cells. The rules are intended to help guarantee a high level of European public health protection and prevent the transmission of diseases via donated tissues and cells.

This 2nd technical Directive now stipulates accreditation of tissue establishments and preparation processes for tissues and cells. It also extends to notification procedures for competent authorities in EU countries of serious adverse reaction events as well as conclusions reached after events have been investigated. An essential requirement in this Directive is guaranteeing that donations may be traceable from donor to recipient and the new Directive confirms that a single European code will be given to donated materials enabling them to be identified wherever used. The coding system, which is not expected to be implemented before September 2008, will include at the least information on donations and product details, however no further details are given with regard to the system itself. The new Directive's implementation means EU countries can now adapt and finalise their own national systems in these fields.

Read about the Human Tissue Act Training Day at the Institute of Physics, London, UK. Go to "Courses" Section.



Call for Proposals: Programme Committee for Public Health, 2007 Work Plan
The Call for Proposals within the frame of the Programme Committee for Public Health's 2007 Work plan has recently been published by DG SANCO.

It is based on a decision (1786/2002/EC) of the European Parliament and the Council which established a Community action programme in public health (2003-2008), implemented through an annual work plan setting out priorities and actions to be undertaken including resources allocation.

The initial 4 years' implementation of the programme which concentrates on 3 chief priorities (health information, health threats and health determinants) form the building blocks of a high level EU health programme. A total of 267 projects have already been selected for funding from previous calls for proposals.

Section "Developing strategies for information exchange and responding to non-communicable health threats" (Annex-point 1.2), sets out the development of strategies and mechanisms regarding information exchange between individuals affected by rare diseases (RD) as well as promotion of better epidemiological studies, codification, classification and definition. In addition, it supports European RD networks of centres of reference to establish best practice guidelines for treatment and share RD knowledge using performance evaluation. Finally, it says that feasibility studies will be encouraged to develop mechanisms for comprehensive data collection on cross border healthcare, integrated into existing ones within Member States, aiming to avoid unnecessary administrative burden.

A few guidelines when applying to this Call for proposals:
  • Total indicative amount for the call for proposals: € 33 888 000
  • Projects for co-funding should be innovative and 3 years' duration maximum
  • >40% of project costs must be funded from sources other than the EC
  • Maximum co-financing per beneficiary: 80% but 10% maximum of the number of funded projects should receive >60% co-financing.

  • Read the Communication from the Commission to the Council



    DG Research
    The 7th Framework Programme is adopted
    Europe’s largest-ever research and technology programme has just been adopted (18 December) by the Council of the European Union to the tune of 54 billion euros, following 19 months’ negotiations. The only real controversy in the medical field to arise was whether or not the EU would fund embryonic stem cell research. However an agreement was reached and on the occasion of the European Parliament plenary debate on FP7 at the end of November, Janez Potočnik, the EC’s Commissioner for Science & Research, referred to “a very responsible ethical framework for a research programme covering so many different countries”.

    A major change compared with FP6 is the creation of the European Research Council (ERC), whose aim is to support "frontier" research carried out by individual teams, and which "brings new logic into ERA", said Potočnik, referring to the fact that funding and other decisions by ERC will be taken by scientists only. "I think this is a major step forward for Europe and I hope this kind of new logical approach will bear fruit also in other discussions in other areas," added Potočnik.

    Other important differences between FP6 (2002-2006) and FP7 (2007-2013)include the following:

    • FP7 will run for 7 years, compared to the 4 years' duration of previous Framework programmes. This is in order for it to coincide with the EU’s budget framework
    • FP7 represents a 40 per cent real-terms increase on the previous framework programme's funding package
    • FP7 will include 4 Specific Programmes: Co-operation, Ideas, People and Capacities.

    The first Calls for proposals are expected to be published by the European Commission on 22 December 2006, with a debate on the European Research Area (ERA) to be launched in early 2007.

    The European Commission published on 14 December 2006 a Call for proposals for the establishment of a database of independent experts to assist the Commission's services for tasks in connection with the Seventh Framework Programme. Should you wish to express your interest in taking part in future FP7 evaluation, review and/or monitoring tasks, Registration is now open.
    For more information, you can visit this address.



    Other European news
    1st Belgian Workshop on Orphan Drugs
    The first Belgian Workshop on Orphan Drugs took place on 7 December at the Federal Parliament in Brussels in the presence of the Princess Astrid of Belgium. The aim was to assess the situation regarding rare diseases and orphan drugs in Belgium, and to compare it with the situation in the Netherlands and in France, both countries having already taken several significant initiatives in this field. The organisers (Yolande Avontroodt, Marc Bogaert, Vincent Bours, Jean-Jacques Cassiman, Lut de Baere, Vera de Graaf, Tim de Kegel, François Eyskens, André Lhoir, Leo Neels, Claude Sterckx, François Sumkay, Erik Tambuyzer, Thierry Velu, Vlaams Patientenplatform VZW) were representing all the stakeholders, all hoping that Belgium could identify areas 1) where the healthcare system is already meeting the needs of the patients and 2) what remains to be done.

    The patients’ representative from LUSS opened the debate with a strong statement on the role of patients’ organisations as an impetus to foster research and improvement of healthcare services. Unfortunately, the 146 Belgian patients’ organisations in the field of rare diseases are not yet sufficiently coordinated to constitute a powerful voice. Prof. Leufkens presented the activity of the Dutch orphan drugs committee while Ségolène Aymé presented the French plan for rare diseases. A panel discussion, coordinated by 2 prominent journalists, gave the floor to professionals, patients, Industry and payors’ representatives. The conclusion was that access to marketed orphan drugs has been greatly delayed in Belgium, well over the acceptable time limit, a situation which requires a corrective action. Most participants would very much like to see an action plan adopted similar to the French one, a plea that members of the federal Parliament will keep in mind.

    See the Final Programme (Flemish & French only)

    From Spain: Research programme is launched by Spanish Health Ministry
    The Spanish Health Ministry has launched a programme to boost research on rare diseases and orphan drug development. The plan has two chief aims:

    -The creation of a "Network Centre for Research in Biomedicine" (CIBER) specializing in rare diseases. The centre will encompass 47 Spanish research groups with an annual budget of 6.2 million euros. Its main objective will be to provide applied research and constitute an international reference centre.

    - Next January, the Ministry of Health and the Carlos III Institute will launch a Programme for Independent Research aimed at providing funds for orphan drug development projects, independent from private initiatives, with a budget of 20 million euros. This call for proposals is also open to research projects on the European or International level.

    From Ireland: 2nd EPPOSI Value of Innovation Workshop
    EPPOSI, the not-for-profit European Platform for Patients, Organizations, Science & Industry, is organizing its next Workshop on "Value of Innovation" in Dublin Castle next month. The Programme will run from 22-23 January 2007 and will include an in-depth patient-led debate about the future of healthcare systems. Following the 1st Workshop on the "Value of Innovation" held jointly in Brussels on 28 June 2004 with the EC's DG Enterprise, this event aims to build on the first workshop, in the frame of discussions held at the EU Pharmaceutical Forum.

    The Workshop is open to all interested parties. It takes as its starting point the following 3 "hot topics" from the Brussels Workshop:

    -Judging the value of innovation: need versus affordability
    -Success stories and best practices in promoting innovation: what can we learn from a comparison of practice and initiative among Europe's Member States?
    -The multi-dimensionality of the value of innovation: considering the value of innovation from different societal perspectives.

    From France: the 20th Telethon - 101 million euros raised for research & healthcare
    France's 20th Telethon for rare disease research has raised an impressive 101 million euros, thought to be the highest amount ever raised by a Telethon of this kind in Europe. This year's event, which took place over the weekend of 8-9 December, represented a concerted national effort including more than 22,000 fund-raising events all over France as well as telephone and internet donations during 30 hours of national television coverage. This year's event was organised around the theme of new treatment now emerging from research undertaken by the Telethon. An unexpected controversy arose in November with criticism arising from a media campaign by a few isolated figures from the Catholic Church over the issue of embryonic stem cell research ethics. However, public support remained undiminished and actually increased this year, whilst President Jacques Chirac publically supported the event in a speech* to organisers and associates of the Telethon.

    Laurence Tiennot-Herment, President of the AFM, noted that these spectacularly high financial results meant that Telethon researchers could now "support more than (...)30 therapeutic trials for 25 different diseases (...). It is certain that together, we will transform research into treatment".

    * In French only



    Other international news
    The Rare Disease Platform: 5 years of concerted international RD action
    Created by the French Muscular Dystrophy Association (AFM) at the Hôpital Broussais in Paris the French Rare Disease Platform, comprising 5 organisations all dealing with complimentary aspects of rare diseases, has for 5 years been informing, researching, listening, constructing and trouble-shooting on rare diseases earning the Platform its reputation as the "French model" in its field.

    Since 2000, the Alliance Maladies Rares, the umbrella organisation for 168 support groups, has been providing much-needed support for families affected by RDs, including diseases so rare they have not yet been matched with any others and do not yet have their own association.

    EURORDIS' chief objective is to bring in the patients' organisations "out of the cold" and into contact with the support and resources they need whilst ensuring that rare diseases are placed firmly on the European public health agenda. This is also having a positive, knock-on effect with regard to orphan products. EURORDIS comprises 260 member RD associations from more than 30 mainly European countries.

    The Institut des Maladies Rares, the French Rare Disease Institute responsible for coordinating rare disease research and funding opportunities, now in its fifth year, has already financed 70 networks of researchers and 170 research projects with a typical call for projects reaching a total of 10 million euros.

    Maladies Rares Infos Services provides a valuable telephone service for patients, families and professionals affected by RDs, receiving more than 7,200 calls annually. Its mission is to support, inform and orientate callers living with rare diseases.

    Orphanet has over the past 10 years created a multi-service portal including Europe's largest rare disease database in 6 languages, now receiving an average 20,000 visits a day. Orphanet's services include an expert-authored, peer-reviewed RD encyclopaedia, in addition to specialist, interactive information services for outpatient clinics, clinical trials and laboratories, research activities and patient support groups.

    Marlene Haffner steps down from the FDA after 35 years' service
    Marlene Haffner, the USA’s orphan drugs "Czar," is stepping down after 35 years’ service as Director at the FDA’s Office of Orphan Products Development, where she was responsible for the leadership and management of the FDA orphan products programme.

    Dr Haffner is a recognized authority and sought-after speaker on RD treatment and research, in addition to international orphan product legislation. A career public health clinician and administrator, she holds the rank of "Rear Admiral" in the US Public Health Service. Educated at George Washington University School of Medicine and Johns Hopkins University, she has served as Professor, Department of Preventive Medicine/Biometrics, and Professor, Department of Medicine, at the F. Edward Hébert School of Medicine, Uniformed Services University of the Health Sciences (USUHS).

    On 1 January 2007 Haffner will take up the job of Executive Director of Regulatory Affairs for Global Government Affairs with Amgen, the USA’s biggest biotech firm. Amgen is known as one of the first companies to take advantage of the 7 years of market exclusivity granted under the US Orphan Drug Act, given to the first firms to market a drug for treating conditions with fewer than 200,000 patients.



    Clinical Networks & Centres of Reference
    Final Call for proposals for Centres of Reference in France
    The 4th and last Call for proposals for centres of reference for a rare disease or group of rare diseases by the French Ministry of Health was launched last month. Priority will be given to remaining subject areas not yet covered in the RD field.

    Date for submissions: 19 January 2007

    Read Government text (French only)



    Job Opportunities: 2 Post-Doctoral Positions in Tumour Immunology & Tumour Progression, Lyon, France
    INSERM UNIT U590: Oncogenesis & Tumour Progression, based in Lyon, France, is recruiting for 2 Post-Doctoral Positions in Tumour Immunology for the "Cytokines and Cancers" department.

    These are respectively:
    a 3-year research contract in “Consequences of immune effector-mediated tumour cell lysis on the spreading of the anti-tumour immune response” and a 4-year research contract in “Characterization of immunogenicity of different tumor cell deaths: role of endogenous TLR ligands”



    New genes
    Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome
    To read more about "Microphthalmia with linear skin defects syndromes"

    AJHG ; 79 : 878-889 ; Nov 2006
    Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
    To read more about "Familial idiopathic steroid-resistant nephrotic syndrome"
    To read more about "Idiopathic steroid-sensitive nephrotic syndrome"

    Nature Genetics ; E-pub ahead of print ; 5 Nov 2006
    Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
    To read more about "Kallmann syndrome"

    Plos Genetics ; 2(10) ; Oct 2006
    Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism ,
    Nature Genetics ; 38(11) : 1310-1315 ; Nov 2006

    DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
    Nature Genetics ; 38(11) : 1248-1250 ; Nov 2006
    Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
    To read more about "Congenital idiopathic nystagmus"

    Nature Genetics ; 38(11) : 1242-1244 ; Nov 2006
    XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
    To read more about "X-linked lymphoproliferative disease"

    Nature ; 444 : 110-114 ; 2 Nov 2006


    New fundamental research
    Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse
    Profound and irreversible deafness known as DFNB9, caused by Otof gene mutations coded Otoferlin, is not an auditory neuropathy as has been previously suggested, but is linked to a cochlea dysfunction. Patients can therefore benefit from cochlear implants.
    Read Roux et coll.

    To read more about ""

    Cell ; 127(2) : 277-289 ; 20 Oct 2006


    New clinical research
    Rendu-Osler-Weber (or THH) Disease: a study reveals the presence of pathogenic mutations of SMAD4 in 10% of patients
    The identification of SMAD4 mutations in HHT patients without prior diagnosis of juvenile polyposis (JP) has significant and immediate clinical implications, since patients are likely to be at risk of having JP-HHT with an associated increased risk of gastrointestinal cancer. Gallione et al. suggest DNA-based testing for HHT include SMAD4 for samples in which mutations in neither ENG nor ALK1 are identified, and recommend that HHT patients with SMAD4 mutations should be screened for colonic and gastric polyps associated with JP.
    To read more about "Rendu-Osler-Weber disease"

    Journal of Medical Genetics ; 43 : 793-797 ; Oct 2006
    New Clinical Trials registered by Orphanet
    A national mono-centre Phase II clinical trial in Belgium for Sutent (SU011248 sunitinib) in the treatment of recurrent and/or metastatic squamous head and neck carcinoma

    An international multi-centre, double-blind, placebo-controlled, randomised clinical trial in the Netherlands for Levamisole treatment in children with steroid-sensitive nephrotic syndrome

    Let us know about your clinical trial
    Click here to tell us about it


    New therapeutic & diagnostic approaches
    A new therapy for pemphigus vulgaris
    A peptide immunotherapy is being developed for the treatment of pemphigus vulgaris, a rare, life-threatening skin disease, aiming to produce a new drug capable of treating the condition.

    Pemphigus vulgaris is characterised by a blistering of the skin and mucous membrane. Patients suffer progressive skin loss until sepsis occurs. Left untreated, the mortality rate rises to more than 95% within 5 years. Patients are currently treated with high-dose steroids over periods of several years and these can have serious, debilitating side-effects including the suppression of the immune system. Pemphigus vulgaris affects 30-40,000 patients worldwide with a concentration among the Ashkenazi Jewish population.

    Peptimmune, a biotechnology company, which is working in a new collaboration with the orphan drugs pharmaceutical company, Orphan Europe, on this therapy, has conducted a Phase 1 trial obtaining an orphan drug designation in the US. Orphan Europe will continue with the drug's development and aims to market the product in Europe, Middle East and Africa. It is hoped that the selective suppression in the production of anti-desmoglein 3 autoantibodies (the pathogenic agent in pemphigus vulgaris) will reduce or eliminate the need for high dose steroids and immuno-suppressants.

    To read more about "Pemphigus vulgaris"



    Orphanet Journal of Rare Diseases News
    Here are this month's new free-access, online Orphanet Journal of Rare Diseases articles, in collaboration with Biomed Central, the open-access publisher:

    KBG syndrome

    Pheochromocytomas and secreting paragangliomas

    Early onset torsion dystonia (Oppenheim's dystonia)

    Autosomal recessive cerebellar ataxias (Highly Accessed)

    Bernard-Soulier syndrome (Hemorrhagiparous thrombocytic dystrophy)

    Check out this month's "Top 10" list of most-viewed OJRD articles.

    A series of articles on practical genetics is published by the European Journal of Human Genetics (EJHG), the official journal of the European Society of Human Genetics, in collaboration with Orphanet.

    Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, fontometaphyseal dysplasia and Melnick-Needles syndrome

    The Borjeson-Forssman-Lehman syndrome (BFLS, MIM #301900)

    (European Journal of Human Genetics, in association with Orphanet)



    Muckle-Wells gene spectrum project in Italy
    Investigation into the mutational spectrum of CIAS1 gene in Muckle-Wells patients from different populations and looking for phenotype-genotype correlations

    Dr Roberto Colombo says: "I would greatly appreciate receiving information on new cases that have been diagnosed and not yet genetically characterized. Our aim is a collaborative study on such cases".

    Contact Robert Colombo and his team at the Laboratory of Human Molecular Biology and Genetics, Catholic University of the Sacred Heart in Milan, Italy





    New designations & authorisations in Europe
    34th orphan medicinal project to receive positive CHMP opinion : Inovelon
    Inovelon (rufinamide), from Eisai Ltd, is intended for the treatment of seizures associated with Lennox-Gastaut syndrome, one of the most severe forms of childhood epilepsy. The EMEA review time was 208 days. Inovelon is the 34th orphan medicinal product to receive a positive CHMP opinion.
    Xyrem to receive a licence extension
    UCB and Jazz Pharmaceuticals have agreed on an extended licence approval for Xyrem (sodium oxybate). UCB has also obtained marketing rights for the treatment of fibromyalgy in 54 countries (compared with 27 previously), once the marketing authorisation for this new indication is obtained.
    New orphan drug designations
    In October and November, the COMP (Committee for Orphan Medicinal Products) awarded orphan drug orphan designations for treatment of the following indications:

    - Prevention of corneal transplant rejection
    - Treatment of acute myeloid leukemia
    - Treatment of mantle cell lymphoma
    - Treatment of glioma
    - Treatment of pancreatic cancer
    - Treatment of neonatal brain injuries
    - Treatment of Li Fraumeni syndrome
    - Treatment of Renal cell carcinoma (2 different designated molecules)
    - Treatment of Amyotrophic lateral sclerosis
    - Treatment of Acute lymphoblastic leukemia
    - Treatment of Soft tissue sarcomas
    - Treatment of Retinitis pigmentosa
    - Treatment of Graft versus host disease
    - Treatment of Gastric cancer
    - Treatment of Corneal transplant rejection

    Consult the European register of designated medicinal products here



    EFGCP 2007 Annual Conference: the European Forum for Good Clinical Practice
    Ethics Committees in Europe – How to work with Diversity?

    30-31 January 2007, Residence Palace, Brussels, Belgium

    Read more about the Conference



    Patient groups to partner with the EMEA
    The European Medicine Agency (EMEA), responsible for the designation of orphan products and the evaluation of most innovative pharmaceutical products prior to marketing authorisation, is actively seeking to develop contacts with patients associations on a transparent basis under new EC legislation . European Regulation EC no. 726/2004, which gives EMEA additional responsibilities to undertake this, clearly sets out criteria to be respected by patients' consumers' associations regarding aspects such as accountability, transparency, objectives, etc, prepared by the EMEA/CHMP Working Group with the patients' organisations. The EMEA's Management Board has also adopted a Framework of Interaction between the EMEA and the associations.

    Actions undertaken by this initiative include the following:
  • Setting up a Working Group for Patients' Organisations (with special focus on transparency of information, safety of products involved & broad public information)
  • Quality review of documents, (Product Information)
  • Pro-active involvement in guideline preparation
  • Specific requests from EMEA Scientific Committees, Working Parties, Scientific Advisory Groups, etc.

  • The Management Board has recently adopted the document entitled "Criteria to be fulfilled by patients' and consumers' organisations involved in EMEA activities". In addition, a questionnaire based on these above criteria has been produced to collect all necessary information to determine whether or not each organisation fulfils the defined criteria, and can thereby take part in EMEA activities.

    Organisations wishing to take part in the EMEA's activities should fill in this questionnaire and send it along with any other relevant documents to this address:

    European Medicines Agency (EMEA) Medical Information Sector 7 Westferry Circus, Canary Wharf London E14 4HB United Kingdom

    or you may email it to: patients-consumers@emea.europa.eu

    There is no deadline for submission of documents. EMEA has now finalised the first wave of evaluation of organisations. Here is the list of patient organisations evaluated and accepted.



    Eurordis update
    DIA 2007 EuroMeeting promotes patient organisation participation through fellowship programme
    The Drug Information Association (DIA) has announced an active promotion scheme for increased integration of patient organisation representatives at its next DIA Euromeeting, due to be held in Vienna on 26-28 March 2007.

    Eurordis was instrumental in setting up a fellowship programme for patient organisation representatives to participate in the DIA (Drug Information Agency) EuroMeetings. It has set up a Fellowship Programme in close association with EURORDIS, now open for applications, designed to help encourage closer exchanges with the patient organisation through an enlarged pool of patient organisation representatives identified as volunteers and potential speakers, as well as enhance awareness of the DIA Euromeetings.
    'Read On



    Human Tissue Act Training Day
    This event will consist of presentations from experts in this field, plus interactive sessions in the afternoon. The Chair of the event is Professor Adrian Newland, President of the Royal College of Pathologists and there will be representatives from the Human Tissue Authority present.
    9 March 2007
    Venue: Rutherford Theatre, Institute of Physics, 76 Portland Place, London W1B 1NT - UK
    Contact for more details



    New books
    Handbook of neurodevelopmental and genetic disorders in adults
    Published by Sam Goldstain & Cecil R. Reynolds
    Guilford Press Editions
    485 pages, price approx. 60 euros

    Atypical parkinsonian disorders : clinical and research aspects
    Author: Irène Litvan
    Published by Current Clinical Neurology
    536 pages, price approx. 125 euros

    The troubled dream of genetic medicine
    Ethnicity and innovation in Tay-Sachs, cystic fibrosis, and sickle cell disease
    Authors: Keith Wailoo, Stephen Pemberton
    Published by the John Hopkins University Press
    249 pages, price approx. 18 euros

    Respiratory Genetics
    Authors: Edwin Silverman, Steven Shapiro, David Lomas & Scott Weiss
    Published by Hodder Education
    496 pages, price approx. 177 euros

    Hemostasis and Thrombosis : basic principles and clinical practice
    Authors: Robert W Colman, Victor J Marder, Alexander W Clowes,
    James N George & Samuel Z Goldhaber
    Published by Lipincott Williams &Wilkins
    1827 pages, price approx. 254 euros



    New reports
    FDA Regulation of Genetic Test Issue Brief
    Health Policy Report : FDA regulation of stem cell-based therapies

    NEJM ; 355 : 1730-1735 ; 19 Oct 2006




    In February
    Orphanet Celebrates its 10th Birthday at the French Ministry of Health
    Ministry of Health, Paris, France
    15 February 2007

    To celebrate Orphanet's 10th birthday, a 1-day conference has been organised by the French National Institute for Health (INSERM) and the French Ministry of Health (DGS). The programme will include discussions and presentations aimed at drawing up a status report of Orphanet's activities and establishing ideas for future developments according to user needs.

    Register here (in French only)



    In April
    1st Canadian Conference on Rare Disorders and Orphan Products Policy
    Montréal, Quebec
    23-24 April 2007
    More details

    7th Heriditary Hemorrhagic Telangiectasia International Conference
    Capri, Italy
    25-28 April 2007
    More details



    In May
    Gaining Access to Rare Disease Research Resources: 2-day European Workshop
    Pasteur Institute, Paris
    4-5 May 2007
    Details coming shortly

    5th International Alkaline Phosphatase Symposium
    Huningue (France)
    16-19 May 2007
    More details

    American Society of Gene Therapy (ASGT) - 10th Annual Meeting
    Washington State Convention & Trade Center, Seattle, USA
    30 May - 3 June 2007
    More details



    In June
    Eurochromnet Meeting
    Copenhagen - Oslo - Copenhagen (ferry cruise)
    1-3 June 2007
    More details



    In July
    23rd Annual National Marfan Foundation Conference
    Stanford University Campus & Sheraton, Palo Alto, USA
    12-15 July 2007
    More details



    In September
    14th European Paediatric Rheumatology Conference
    Istanbul, Turkey
    5-9 September 2007
    More details

    World Congress on Huntington's Disease
    9-12 September 2007
    Dresden, Germany
    More details



    In November
    2nd European Rare Diseases Conference
    27-28 November 2007
    Lisbon, Portugal
    More details


    Orphanews International, the newsletter of the European Union Committee of Experts on Rare Diseases
    Orphanews International 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, Sophie Höhn, Helena Kaariainen, Odile Kremp, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Jaroslaw Waligora

    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), Zsuzsanna Lengyel (Hungary), Thor Thorarinsson (Iceland) , John Devlin (Ireland), Annick Raas-Rotshild (Israel), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Romalda Baranauskiene (Lithuania) , Yolande Wagener (Luxembourg), Miriam Dalmas (Malta), Jolande Huizer (Netherlands), Stein Are Aksnes (Norway), Jacek Gralinski (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, Dian Donnai, Laura Fregonese, 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, Sophie Koutouzov, 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: Tamara F. Sarkisian (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), András Becskeházi (Hungary), Andrew Green (Ireland), Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Viadutis 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
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    Photo credit : Serimedis http://www.serimedis.inserm.fr/ (Unless otherwise stated)