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EDITORIAL |
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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
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NEWS: Needs of patient groups for
accessing RD research resources |
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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.
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SPECIAL REPORT: Abbey Meyers, President
of NORD, announces her retirement |
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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.
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AROUND EUROPE: Norway: Information and
services for rare disease patients |
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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.
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PROFILE: A European rare disease
federation |
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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.
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ORPHAN DRUGS |
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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
Revlimid
[lenalidomide]
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.
Cystadane
[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.
Elaprase
[Idursulfase]
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)
>
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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
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IN BRIEF
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Events
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
ABSM
Belgium
www.marfan.be
Represents: Marfan syndrome
Deutsche Uveitis-Arbeitsgemeinschaft
eV
DUAG
Germany
www.duag.org
Represents: Uveitis
Associate Membership
Frambu - National Center of Rare
Disorders
Norway
www.frambu.no
Represents: Rare diseases
European Association of Patient
Organisations of Sarcoidosis & Other
Granulomatous Disorders EPOS
Europe
www.sarcoidosis.biz 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:
www.rare-diseases.eu. 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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