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AISMME NEWS del 1/12/2008: Eurordis Newsletter December 2008

News da: Eurordis 01/12/2008

Eurordis Newsletter December 2008

EURORDIS - Rare Diseases Europe
December 2008


In this issue
  • INSIGHT: Unity and empowerment for rare disease patients
  • GET INVOLVED: CAPOIRA - the way forward
  • LIVING WITH A RARE DISEASE: Laura Galluppi, Special Olympics champion and rare disease patient

    Dear Readers,

    Rare diseases are high on the political agenda. Thanks to the rare disease community, rare diseases are becoming a public health priority in Europe at EU level, and most Member State levels. Is our initial vision turning into reality? Yes, but only part of it. One side of the road is sunny but the other is cloudy and the road is long. The road is very long before we really improve the life of all people living with rare diseases in Europe; especially if we think of the generations to come. A fair and sustainable policy for people living with rare diseases needs to be based on social justice.

    Today, we hear some, fortunately only some, but already far too many, policy makers and health policy officials saying that our national public health system will never be able to take care of all people with rare diseases: "too many people", "expensive hospital care", "expensive home care" and "far too expensive orphan drugs", they say. Should we forgive them this flippancy? They are certainly not unkind and do not intend to offend. They believe they have the knowledge and are rational decision makers. They think we, the patients, the parents and the carers are emotional.

    Why should we believe them? Can they show us that all their health policy decisions for the past twenty years are rational evidence-based decisions confirmed by fact and figures? They are wrong because they don't have solid evidence. We need to sort out "the facts, the maybes and the rumours" for them. They are morally and politically wrong.

    We, the community, have more wisdom. Courage is always on the side of life, of trust in patients, people, population, progress, dignity and respect. The life of each person has the same value as the life of any other one, even if affected by a disease which unfortunately happens to be rare.

    Cowardice is always on the side of death, of mistrust in patients, people and society, in the lack of respect and dignity. The wisdom of the crowd in the rare disease patient community is to believe that we have a good cause, a cause for life and a strategy for all people living with rare diseases.

    That includes the rare, the very rare and the extremely rare. It will cost money and it will take several generations to care and manage for all of them. Society can afford it. How can society not afford it? If we leave the most vulnerable in society by the side of the road, it is society at large which is losing faith in its capacity to live together.

    People with rare diseases deserve to be given extra advantage since they are a very vulnerable part of our society. Also because like any other human being, they are entitled to fair treatment and a good share of society.

    Yann Le Cam
    Chief Executive Officer


    An awareness campaign to improve care for rare disease patients

    Preparations for RARE DISEASE DAY 2009, the international day for rare diseases, are well underway. The 2009 edition promises to be more visible, more inclusive, and more international then ever. Various tools are currently being developed by EURORDIS, including a brand new website with additional features, an information pack, and logos and flyers. A book based on the results of the EurordisCare2 and EurordisCare3 surveys, The Voice of 12,000 Patients, will be specially launched during the event. A EURORDIS Declaration for Centres of Expertise and European Reference Networks will also be launched. But the main attraction remains the myriad of local activities that will take place in each country, from Russia and the Ukraine to Spain, Scandinavia, the US and even Canada.

    INSIGHT: Unity and empowerment for rare disease patients
    In each testimony of patients with rare diseases, in every rare disease organisation's story there comes, unsurprisingly, the aspect of isolation, of helplessness in the face of an unknown, undocumented and incurable disease. Patient empowerment has proved to be the key to change.

    GET INVOLVED: CAPOIRA - the way forward
    Capacity building for patient associations in research activities

    CAPOIRA is a project led by EURORDIS, featuring four other partners from different European countries: INSERM (France), FEDER (Spain), UNIAMO (Italy) and RDD (Denmark). CAPOIRA was funded by the European Commission's 7th Framework Program for Research and Development under the theme 'Science and Society'. Its main aim was capacity building for patient associations in research activities; in particular clinical trials (private or public) at national and European levels and health research projects (clinical and non-clinical).

    LIVING WITH A RARE DISEASE: Laura Galluppi, Special Olympics champion and rare disease patient
    She is just 21 and wears a smile that will light up every room. Laura Galluppi won 3 medals at the 2007 Special Olympics World Games held in China. She also has Phenylketonuria, a rare disease that affects the brain and muscle coordination.


    New designations November 08

    Treatment of chronic idiopathic myelofibrosis
    (R)-3-(4-(7H-pyrrolo[2,3-d]pyrimidin-4-yl)-1H-pyrazol-1- yl)-3-cyclopentylpropanenitrile phosphate

    Treatment of alpha-sarcoglycanopathy
    Adeno-associated viral vector containing the human alpha-sarcoglycan gene

    Treatment of spinal cord injury
    Autologous urothelial and smooth muscle cells

    Treatment of isovaleric acidaemia
    Carglumic acid

    Treatment of methylmalonic acidaemia
    Carglumic acid

    Treatment of propionic acidaemia
    Carglumic acid

    Treatment of cystinosis
    Cysteamine hydrochloride

    Treatment of corneal lesions, with associated corneal (limbal) stem cell deficiency, due to ocular burns
    Ex vivo expanded autologous human corneal epithelium containing stem cells

    Treatment of spinal cord injury

    Treatment of chronic lymphocytic leukaemia

    Treatment of mucopolysaccharidosis, type IIIA (Sanfilippo A syndrome)
    Recombinant human heparan-N-sulfatase

    New Marketing Authorisations

    [Histamine dihydrochloride]
    EpiCept GmbH, Germany

    What is Ceplene?
    Ceplene is a solution for injection that contains the active substance histamine dihydrochloride (0.5 mg/0.5 ml).

    What is Ceplene used for?
    Ceplene is used in combination with interleukin-2 (an anticancer medicine) as maintenance treatment in adults with acute myeloid leukaemia (AML), a type of cancer affecting the white blood cells. It is used during the patients' first 'remission' (a period without symptoms of the disease after the first course of treatment). The effectiveness of Ceplene has not been fully demonstrated in patients older than 60 years of age.
    Because the number of people with AML is low, the disease is rare, and Ceplene was designated as an 'orphan medicine' (a medicine used in rare disease) on 11 April 2005.
    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, Paloma Tejada (editor), Nathacha Appanah (Writer), Anja Helm, François Houÿez, Flaminia Macchia, Denis Costello

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

    © 2008 EURORDIS


    News in brief

    The Rare Disease March
    6 December 2008, Paris

    Alliance Maladies Rares, the French National Alliance for Rare Diseases, is organising the 9th edition of the Rare Disease March on 6th December, during the 2008 Telethon. This year again, some 2000 people will come together and walk across Paris to celebrate our differences. Patients, parents, children, friends and relatives, will all carry the same message: the diseases they live with may be rare, but 25 million people in Europe and three million people in France alone are affected. The march is a festive event that many look forward to and that keeps demonstrating, year after year, the strength of our movement: the fight against rare diseases.


    Conference on the Impact on Clinical Research of European Legislation
    December 2, 2008
    Brussels, Belgium

    2nd Rare Disease Day
    "Patient-Centered Care"
    February 28, 2009

    3rd International Congress on Rare Pulmonary Diseases and Orphan Drugs
    March 20-21, 2009
    Milan, Italy

    DIA Euro Meeting
    March 23-25, 2009
    Berlin, Germany

    EURORDIS Membership Meeting
    May 8-9 2009
    Athens, Greece

    7th World Congress on Melanoma
    May 12-16 2009
    Vienna, Austria

    8th Balkan Meeting on Human Genetics
    May 14-17, 2009
    Dubrovnik, Croatia

    12th International Congress on Neuronal Ceroid Lipofuscinoses
    June 3-6 2009
    Hamburg, Germany


    More events 2008 >
    More events 2009 >

    Extension of Deadline
    DIA Patient Fellowship programme

    The Drug Information Association (DIA), an independent, neutral, non-profit organisation, established the DIA Patient Fellowship to promote the participation of patient organisation representatives in the annual DIA EuroMeeting. The EuroMeeting is global in scope, attracting well over 3,000 professionals from over 50 countries. It brings together professionals from the biopharmaceutical industry, contract service organisations, academic research centres, regulatory agencies and health ministries. This convergence affords attendees the opportunity to network with professionals from around the world.

    DIA Europe welcomes the active participation of patient organisation representatives at this year's EuroMeeting in Berlin, March 23-25, 2009.

    Please note that completed applications must be received by: 14 December 2008. For more information click here.

    Book Review:

    Herzsache ('Matters of the Heart') addresses the issues experienced by people affected by Marfan Syndrome and related diseases. It explores what answers they can provide themselves and when they need to rely on an expert.

    The book provides basic information and practical knowledge for responsibly managing the disease in the delivery of health care and on a day-to-day basis. It gives insight into the needs of those affected and their loved ones, and, with that, ideas for structuring efforts to promote health literacy in a user-oriented way. The book is modelled on the WHO concept of health promotion: people affected by the condition collaborated from the very beginning in determining the contents of the book.

    Herzsache is part of a multi-phased training and self-help project by the Marfan Foundation Switzerland. The book has been published in German and a French version will be available early 2009.


    For more information contact:
    Mrs M. Perez-Humpierre,
    Director of the Marfan Foundation Switzerland,
    CH-3011 Berne.
    (+41) (0)31 -312 11 22
    Fax: (0)31 -312 11 20

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