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AISMME NEWS del 29/12/2008: Eurordis Newsletter Jannuary 2009

News da: Eurordis 29/12/2008

Eurordis Newsletter Jannuary 2009

EURORDIS - Rare Diseases Europe

January 2009


In this issue
  • NEWS: European action in the field of rare diseases
  • SPECIAL REPORT: At the crossroads of two worlds
  • LIVING WITH A RARE DISEASE: Speaking with the eyes

    Dear Readers,

    With this first editorial of 2009, it is EURORDIS' privilege to officially launch Rare Disease Day 2009 which will be held on 28 February. The last day of February is a rare, unique, unusual day which echoes the spirit of our diseases. Rare Disease Day is held on the 29th on leap years and on the 28th for the three following years.

    Indeed, it is a very special day for all people living with rare diseases to "step out of the shadow and into the light", to enhance our rare disease community and to promote "Rare Diseases as a Public Health Priority".

    Building on the success of the first European Rare Disease Day on 29 February 2008, this year, Rare Disease Day is international, spreading throughout Europe far beyond the boundaries of the European Union as well as in Canada with CORD, in United States with NORD, in Latin America with Geiser Foundation.

    National Alliances on rare diseases in nineteen countries together with all their members and partners will take an active part to jointly voice the message "Patient Care: a Public Affair!". With this message we aim at promoting public health policies and actions improving access to diagnosis and care for all rare disease patients.

    You too can take part in the Rare Disease Day! Go to the website and upload photos and testimonies or even a video. Rare Disease Day is for you and all about you.

    Please send us your comments, opinions and advice. If you are a patient association, an academic group, a company and you would like to take part in this awareness campaign, please first contact your local National Alliance or contact us at

    Together, in 2009, we can take our common cause to a new level!

    Yann Le Cam
    Chief Executive Officer


    NEWS: European action in the field of rare diseases
    On 11 November 2008, the European Commission adopted a Communication on Rare Diseases as well as a proposal for a European Council Recommendation. These two documents will establish an overall and comprehensive, EU wide and integrated strategy to support Member States on issues including diagnosis, treatment and care for rare disease patients throughout Europe.

    A joint action for National Strategies and Plans for Rare Diseases in all EU Member states

    Exactly one week after the announcement of the European Commission Communication and Council Recommendation on Rare Diseases, the mood was highly positive in Paris on 18 November 2008, where stakeholders from all over Europe gathered for a well attended one-day European conference dedicated to 'National Strategies and Action for Rare Diseases'.

    SPECIAL REPORT: At the crossroads of two worlds
    Rare Cancers

    The European Symposium on rare tumours, which took place on 6th November 2008, brought together over 150 participants representing a multitude of stakeholder groups in the area of rare cancers. Several interactive sessions were organised to develop draft recommendations for future action and for public policies on rare tumours. Selected participants share their view of the day, the content of the groups' recommendations, as well as their hopes and actions in favour of rare cancer patients.

    LIVING WITH A RARE DISEASE: Speaking with the eyes
    Locked-in syndrome

    Daniela Ferraro lives with Locked-in syndrome, a very rare neurological disorder that leaves patients conscious and able to think and reason, but unable to speak or move. Often, their only way of communicating with those around them is by moving their eyes. There is no cure, nor any standard course of treatment. To make things worse, patients affected by LIS are often misdiagnosed as being in a coma, and therefore unconscious. Luigi Ferraro, from Italy, speaks about his wife's ordeal.


    New designations December 08

    Treatment of glioma
    Gadodiamide (liposomal)

    Treatment of soft tissue sarcoma

    Treatment of acute myeloid leukaemia
    Daunorubicin (liposomal)

    Treatment of Duchenne muscular dystrophy
    RNA, [P-deoxy-P-(dimethylamino)] (2´,3´-dideoxy-2´,3´- imino-2´,3´-seco) (2´a-5´)(C-m5U-C-C-A-A-C-A-m5U- C-A-A-G-G-A-A-G-A-m5U-G-G-C-Am5U-m5U-m5U-C- m5U-A-G), P-[4-[[2-[2-(2-hydroxyethoxy)ethoxy] ethoxy] carbonyl]-1-piperazinyl]-N,N dimethylaminophosphonamidate

    Treatment of chronic lymphocytic leukaemia

    Treatment of thrombotic thrombocytopenic purpura
    Recombinant human ADAMTS-13

    Treatment of gastro-entero-pancreatic neuroendocrine tumours
    Yttrium (90Y) edotreotide

    Treatment of acute myeloid leukaemia
    2-[[3-({4-[(5-{2-[(3-Fluorophenyl)amino]-2-oxoethyl}- 1Hpyrazol-3-yl)amino]-quinazolin-7-yl}oxy)propyl](ethyl) amino]ethyl dihydrogen phosphate trihydrate

    Treatment of Duchenne muscular dystrophy

    Treatment of hairy cell leukaemia
    Murine anti-CD22 antibody variable region fused to truncated Pseudomonas exotoxin 38

    Treatment of multiple myeloma
    N2´-Deacetyl-N2´-[4-methyl-4-(oxobutyldithio)-1- oxopentyl]-maytansine-chimerised anti-CD138 IgG4 Monoclonal Antibody

    Treatment of hypophosphatasia
    Recombinant human tissue non-specific alkaline phosphatase -Fc - deca-aspartate fusion protein



    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)

    © 2009 EURORDIS



    EuroGentest Workshop: Validation of Diagnostic Tests in Clinical Molecular Genetics
    8-9 January
    Prague, Czech Republic

    IBC Conference: Ushering in the New Era of Orphan Disease R&D, Clinical & Business Strategies
    5-6 February 2009
    Bethesda MD, USA

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


    British Paediatric Surveillance Unit 2009 Conference
    3 March 2009
    London, United Kingdom

    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 >

    Eurordis welcomes new members

    Full Membership

    Association Pemphigus - Pemphigoïdes France
    Represents: Pemphigus

    Association pour l'information et la recherche sur le syndrome SAPHO
    Represents: SAPHO syndrome

    Myasthenia Gravis Association
    United Kingdom
    Represents: Myasthenia gravis

    Incontinentia Pigmenti
    Represents: Incontinentia pigmenti

    Association pour aider et informer les syringomyéliques européens réunis (APAISER)
    Represents: Syringomelyia


    Associate membership

    Association pour l'Arachnoïdite et autres maladies orphelines (AARMOR)
    Represents: Adhesive Arachnoiditis

    Malaysia Metabolic society (MMS)
    Represents: Inborn errors of metabolism

    New National Alliance

    Genetic Interest Group (GIG)
    United Kingdom

    See all Eurordis member organisations >

    DIA Patient Fellowship programme
    Extension of Deadline

    The application deadline for the Fellowship programme has been further extended to 15 January 2009.
    For more information >

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