EURORDIS - Rare Diseases Europe
July 2007


In this issue
  • NEWS: Needs of patient groups for accessing RD research resources
  • SPECIAL REPORT: Abbey Meyers, President of NORD, announces her retirement
  • AROUND EUROPE: Norway: Information and services for rare disease patients
  • PROFILE: A European rare disease federation

    Dear Readers,

    On 23 May 2007, on behalf of Eurordis, I had the pleasure of receiving NORD's International Leadership Award from the hands of its president, Abbey Meyers. This award was given to us on the occasion of Eurordis' 10th year anniversary. At Eurordis, we feel good because this means we are being recognised by the community where it all started - our community, our family.

    NORD, the US National Organization for Rare Disorders, is at the origin of significant change in the therapeutic environment for people living with rare diseases. NORD has created the concept of orphan drugs as well as the concept of rare disorders: two powerful instruments now used to make our lives better, in different parts of the world.

    I can still picture it: the date was October 1996; we were in Paris, at the French Senate, and it was our first conference: a launch pad for our advocacy work, then entirely focussed on creating a European orphan drug regulation. Abbey Meyers was there to share NORD's vision and to give us the energy to go ahead. Marlene Haffner was also with us, representing the FDA. Six months later we created Eurordis. 10 years after this event and 25 years after having founded NORD, Abbey Meyers is stepping down.

    What I would love to see happen in the next 10 years is the deepening of international collaboration between patient groups dedicated to rare or genetic diseases. In Europe, in the US and across the world, people living with rare diseases have the same needs. We face the same issues and we develop similar strategies to address them. Only tactics, resources, and organisational elements vary. We have much more in common than what differentiates us. My hope: that we act to create together an international rare disease patient movement - the sooner the better.

    Yann Le Cam
    Chief Executive Officer


    NEWS: Needs of patient groups for accessing RD research resources
    Eurordis celebrated its 10 year anniversary during its Membership Meeting 2007 Paris on 4 and 5 May. A European workshop on "Gaining access to rare disease research resources", part of the CAPOIRA project and funded by the European Commission, was organised at the same time. The workshop was the opportunity for the 270 participants to express the needs of patient groups in terms of research.

    SPECIAL REPORT: Abbey Meyers, President of NORD, announces her retirement
    Abbey Meyers, who co-founded NORD (the National Organization for Rare Disorders in the US) and served as President for almost 25 years, will retire soon. In this article, she recalls what NORD was like at the beginning and what it has achieved in its fight for rare disease patients from the US and the world.

    AROUND EUROPE: Norway: Information and services for rare disease patients
    For Norwegians, the quality of life of people living with rare diseases is of paramount importance. The government therefore funds several initiatives aiming at providing patients and their families with all kinds of information on rare diseases and how to live with them. Frambu, a national centre for rare diseases and disabilities, is one of those initiatives.

    PROFILE: A European rare disease federation
    Many rare disease patient groups join forces to have a greater impact on research and awareness of their disease. Suzy Cooper was a member of the UK Williams Syndrome Foundation and went on to create the Federation of European Williams Syndrome Associations. She recalls past challenges and difficulties and talks about the federation's current projects.


    New designations June 07


    Treatment of osteosarcoma
    5(S)-(2'-hydroxy ethoxy)-20(S)- camptothecin

    Treatment of pancreatic cancer
    Cisplatin (liposomal)

    Treatment of haemophilia B (congenital factor IX deficiency)
    Recombinant fusion protein consisting of human coagulation factor IX attached to the Fc domain of human IgG1


    New designations April 07


    Treatment of metachromatic leukodystrophy
    Autologous CD34+ cells transfected with lentiviral vector containing the human arylsulfatase A cDNA

    Treatment of gastro intestinal stromal tumours
    Nilotinib hydrochloride monohydrate


    New Marketing Authorisations

    Celgene Europe Limited, UK

    What is Revlimid?
    Revlimid is a medicine containing the active substance lenalidomide. It is available as capsules containing 5 mg (white), 10 mg (blue-green and yellow), 15 mg (blue and white) and 25 mg (white) lenalidomide.


    What is Revlimid used for?
    Revlimid is an anticancer medicine. It is used in combination with dexamethasone (an anti-inflammatory medicine) to treat adult patients with multiple myeloma whose disease has been treated at least once in the past. Multiple myeloma is a cancer of the plasma cells in the bone marrow. Because the number of patients with multiple myeloma is low, the disease is considered 'rare', and Revlimid was designated an 'orphan medicine' (a medicine used in rare diseases) on 12 December 2003. The medicine can only be obtained with a prescription.

    [betaine anhydrous]
    Orphan Europe S.A.R.L., France

    What is Cystadane?
    Cystadane is a powder for oral use that contains the active substance betaine anhydrous.


    What is Cystadane used for?
    Cystadane is used to treat homocystinuria. It is used with other treatments, such as vitamin B6 (pyridoxine), vitamin B12 (cobalamin), folate and a special diet. Homocystinuria is an inherited (genetic) disease where the amino acid methionine cannot be broken down completely by the body. Methionine naturally comes from proteins in foods and is usually broken down into homocysteine, then cysteine. Patients with homocystinuria cannot convert homocysteine into cysteine, so homocysteine builds up in the blood and urine. Symptoms of homocystinuria include thrombosis (formation of blood clots in the blood vessels), weakness of the bones, abnormalities of the skeleton, ectopia lentis (a disorder where the lens of the eye is in the wrong position) and mental retardation. The disease is serious and has a high death rate. Cystadane is used in patients with all three known types of homocystinuria, caused by a lack of the substances required for the breakdown of methionine ('cystathionine beta-synthase' [CBS] or '5,10- methylene-tetrahydrofolate reductase'[MTHFR]), or by defects in 'cobalamin cofactor metabolism' (cbl).
    Because the number of patients with homocystinuria is low, the disease is considered 'rare', and Cystadane was designated an 'orphan medicine' (a medicine used in rare diseases) on 9 July 2001. The medicine can only be obtained with a prescription.

    Shire Human Genetic Therapies AB, Sweden

    What is Elaprase?
    Elaprase is a concentrate for solution for infusion that contains the active substance idursulfase.

    What is Elaprase used for?
    Elaprase is used to treat patients with Hunter syndrome. It is designed for long-term use. Hunter syndrome, which is also known as mucopolysaccharidosis II, is a rare, inherited disease that primarily affects male patients. Patients with Hunter syndrome do not produce an enzyme called iduronate-2-sulfatase. This enzyme is needed to break down substances in the body called glycosaminoglycans (GAGs). Since patients with Hunter syndrome cannot break these substances down, the GAGs gradually build up in most of the organs in the body and damage them. This causes a wide range of symptoms, particularly difficulty breathing and difficulty walking. Without treatment, these symptoms become more severe over time. Because the number of patients with Hunter syndrome is low, the disease is rare, and Elaprase was designated an 'orphan medicine' (a medicine used in rare diseases) on 11 December 2001. The medicine can only be obtained with a prescription.



    All Orphan Drugs in Europe (in English) >

    European Public Assessment Reports (EPARs)(multilingual) >




    The Eurordis E-Newsletter is made possible thanks to the generous funding of The Medtronic Foundation.


    Editorial Team: Yann Le Cam, Jérôme Parisse-Brassens (Editor and Writer), Julia Fitzgerald, Nathacha Appanah (Writer), David Oziel (Site of the Month), Anja Helm, François Houÿez

    Translation Team: Conchi Casas Jorde (Spanish), Ana Cláudia Jorge and Victor Ferreira (Portuguese), Roberta Ruotolo (Italian), Trado Verso (French), Ulrich Langenbeck (German)

    © 2007 Eurordis



    Barth Syndrome National Multidisciplinary Clinic & Family Gathering
    6 - 7 July 2007
    Bristol, UK

    Barth Syndrome European Family Gathering
    2 September 2007
    Bokrijk, Belgium



    2007 World Congress on Huntington's Disease
    9-11 September 2007
    Dresden, Germany

    A European Union Conference
    "Rare Diseases Research: Building on Success"
    13 September 2007
    Brussels, Belgium

    8th EPPOSI Workshop
    "Partnering for Rare Diseases Therapy Development"
    18-19 October 2007
    Copenhagen, Denmark

    Heart Rhythm Congress 2007
    29-31 October 2007
    Birmingham, UK

    4th European Conference on Rare Diseases (ECRD 2007)
    27-28 November 2007
    Lisbon, Portugal

    IAPO Global Patients Congress 2008
    February 2008
    Budapest, Hungary


    More events
    2007 | 2008 >

    Site of the Month

    The NIH (National Institutes of Health) is one of the eight agencies that constitute the public health system in the United States. Made up of twenty seven institutes classified by research fields, the NIH is a federal agency whose mission is to organise and finance medical research in the US.

    Read more >

    Eurordis welcomes new members

    Full Membership

    Association Belge du Syndrome de Marfan
    Represents: Marfan syndrome

    Deutsche Uveitis-Arbeitsgemeinschaft eV
    Represents: Uveitis

    Associate Membership

    Frambu - National Center of Rare Disorders
    Represents: Rare diseases

    European Association of Patient Organisations of Sarcoidosis & Other Granulomatous Disorders EPOS
    Europe Represents: Sarcoidosis

    See all Eurordis member organisations >

    European Conference on Rare Diseases - Lisbon 2007

    "Patients at the Heart of Rare Disease Policy Development": Eurordis is organising with 9 partners the 4th European Conference on Rare Diseases in Lisbon on 27 - 28 November 2007. It will be the second European conference to be held under the EU presidency and financially supported by the European Commission. A pre-conference workshop on help lines for rare diseases open to all will take place on 26 November. Preliminary programme and registration: Places are limited. Register now!

    Next Newsletter: Oct 1st, 2007

    The Eurordis Newsletter takes a summer break in August and September. Look for our next issue on Oct 1st !

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