Rahvusvaheline haruldaste haiguste päev
29 Veebruar on eriline päev, mil tähistatakse paljudes riikides haruldaste haiguste päeva. Ka meie EGA ühing pole seda unustanud…
Seoses sellega, koostas ka EGA oma isikliku postri. mida kahjuks täies versioonis pole võimalik siia üles panna.
Aga siiski lisan sellel olevad tekstid.
Tekstid sisaldavad enamasti EGE olemust ja tegevust.
Gaucher Disease is an autosomal recessive disease and the most common
Lysosomal Storage Disorder with an incidence of about 1 in 100,000 live
births. It is caused by defi ciency of a specifi c enzyme ( glucocerebrosidase)
in the body, caused by a genetic mutation received from both parents.
This leads to an accumulation of the enzyme’s substrate, glucocerebroside,
which results in it being stored in the spleen, liver, kidneys, lungs, brain
and bone marrow. Each disease course can be variable, ranging from no
outward symptoms to severe disability and death.
Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and
bone lesions that may be painful, neurologic complications, swelling of lymph nodes and
(occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low
blood platelets and yellow fatty deposits on the sclera. Persons affected most seriously
may also be more susceptible to infection. Despite the fact that Gaucher Disease consists
of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes
according to the presence or absence of neurological involvement.
The European Gaucher Alliance (EGA) is an incorporated company which was registered
in England in 2008 with an elected a board of directors. Its membership is made up of
National groups representing Gaucher Patients and it currently has 28 Full members and
3 Associate members (non voting membership is available to National Gaucher Groups
outside Europe).
Representatives of European Gaucher patient groups fi rst met in Trieste in 1994 at a meeting
of the European Working Group on Gaucher Disease (EWGGD) and have come together in
separate sessions at subsequent meetings of the EWGGD. The Aims of the EGA are set out
below but a prime objective is to achieve access to expert treatment for Gaucher patients
wherever they are in the world.
The EGA is particularly proud to have been instrumental in the the establishment by the
Genzyme Corporation of the European Cerezyme Access Program (ECAP) which has now
merged with others to become the International Cerezyme Access Program which provides
Humanitarian aid to Gaucher patients and has resulted in 120 patients from 14 countries
accessing treatment which otherwise would have not been available to them.
The Aims of the EGA are:
• To collect information on the latest developments in the understanding, management
and treatment of Gaucher Disease and to disseminate such information to all parties who
have an interest in Gaucher Disease and other similar disorders.
• To provide information support guidance and encouragement to groups of individuals
representing Gaucher patients throughout Europe and elsewhere in the world.
• To represent the interests of Gaucher patients to European and International organisations
and bodies and to ensure that the voice of the Gaucher Patient is heard at all times.
• To encourage and promote scientifi c and medical research into Gaucher Disease and
improved therapeutic approaches and to seek to ensure all such research recognises the
centrality of the Gaucher Patient.
• To work with the medical and scientifi c community to defi ne priorities in the understanding
of Gaucher Disease its management and treatment.
• To work with, facilitate, support and encourage the activities of the European Working
Group on Gaucher Disease (EWGGD) and other organisations or working groups with
similar objectives.
• To be a forum to address ethical issues arising from the study of Gaucher Disease its
management and treatment.
• To ensure that appropriate treatment is available to all patients with Gaucher Disease
who require treatment regardless of race, creed, colour ethnic origin or national or religious
background.
Achievements since formation:
• The EGA was formally Launched at the European Parliament under the sponsorship of
Patron Peter Liese MEP in February 2009 when its board met with a number of MEPS and
representatives of the European Commission.
• The EGA played a pivotal role with the EWGGD in the management the global Cerezyme
crisis instigating and participating in meetings with the key European clinicians and industry
and in the establishment of an emergency pool of enzyme to be made available to patients
in Europe where treatment may otherwise not being available
• EGA members have contributed to papers in learned journals on the supply issues and
also on the need for a centralised disease registry.
• EGA Members together with the EWGGD have participated in meetings with the European
Parliament and thee European Medicine Agency and engaged with Eurordis and
other European bodies to seek to further the aim of the establishment of a European
Gaucher Registry.
• The EGA together with the EWGGD and the US National Gaucher Foundation (NGF) called
and hosted a meeting of the 5 leading pharmaceutical companies active in the fi eld of
Gaucher Disease to seek to develop a pathway to establish a Global Humanitarian program
for Gaucher patients resulting the establishement of pilot studies for aid to India
and Pakistan.
• The EGA has published and distributed the proceedings of the EWGGD meetings held in
Budapest 2008 and Cologne 2010 and intendes to do the same in June 2012 for the
EWGGD to be held in Paris.
• EGA board members have worked with the Niemann-Pick European Patient Organisation and
the Battens Disease Patient Organisation on the Establishment of pan European Patient
Groups.
• A dedicated EGA website was launched in 2011.
• The EGA has been accredited by the European Medicines Agency as a recognised patient
Organisation
Meeting Plans for 2012:
EGA Meeting
A full EGA meeting of its members associate members and prospective
members will be held ion Paris in June 2012 ahead of the EWGGD meeting at which members
will participate
Go with Gaucher – taking forward the next generationh.
This will take place in November 2012
and it aims are to bring together young Gaucher patients to work together on their common
needs and aspirations and to encourage them to take active roles in their National
Associations so they become the Gaucher leaders of tomorrow.
