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100 delegates including families, physicians, patients with Gauchers disease, Ministry of Health personnel and patient representatives from 10 European Gaucher Associations met in Moscow for the first meeting of the Russian Patient Association on 15 - 17 May 2005. Tanya Collin-Histed and Jeremy Manuel from the UK Gauchers Association attended the meeting. Tanya Collin-Histed reports:
The meeting organised by Marina Terekhova who runs the Russian Patient Association was the first step to identify how to help patients with Gauchers disease in Russia who currently do not have access to enzyme replacement therapy.
The meeting brought together doctors and staff from the Ministry of Health who are working together to support patients with this disease. Doctors spoke about the lack of awareness of Gaucher disease amongst doctors and that the high cost of treatment meant that it was difficult for patients to get treatment although the Government recognised that this issue must be addressed at a federal and not a local level.
However steps are being taken to improve services to these patients and a register of patients was now in place at a medical centre in Moscow. There is currently a model in place for another disease which follows the pathway of diagnosis; referral to centre; approval for treatment; referral back to local level; then referral to a regional centre for annual check up. It is hoped that this model can be used for patients with Gaucher disease.
Jeremy Manuel spoke on behalf of the European Gaucher Alliance (EGA) describing how it was founded 11 years ago and now contained patient associations from 24 European countries. The EGA was instrumental in obtaining humanitarian aid from Genzyme to provide enzyme replacement therapy for more than 60 seriously ill children and adults with Gaucher disease in Eastern Europe through the European Cerezyme Access Programme (ECAP).
Dr Anna Tylki-Szymanska from the Children's Memorial Health Institute of Metabolic Diseases in Warsaw, Poland spoke about the situation in Poland with patients with Gaucher disease and how they are managed. Currently all adult patients in Poland are looked after by paediatric doctors due to a shortage of doctors. She spoke about centralisation of funding for treatment and that there was now a budget in the National Health Fund for treatment.
Wojtek Oswiecinski from the Polish Gaucher Patient Association spoke of initial problems with funding for treatment, although today all 56 patients in Poland are receiving enzyme replacement therapy. In addition there have been problems over the years with new laws and the development of different health systems that have been challenging. Therefore it has been necessary to lobby Government to ensure the security of long term funding for patients.
Elena Martynenko President of the Ukrainian Patient Association described the situation in the Ukraine where there are 20 patients, 17 children and 3 adults. Today 11 children are on enzyme replacement therapy and five adults. All of the patients receiving treatment in Ukraine are receiving free treatment under the on the humanitarian ECAP or other programmes.
Elena is hopeful that the new Government who has promised to take over the funding of these patients treatment will fulfil their promise. One of the biggest challenges in the Ukraine is educating the doctors in the regions about Gaucher disease so that patients can be given their treatment in their home regions rather than travel to Kiev where they are all currently treated.
Dr David Meeker from Genzyme Pharmaceuticals described the symptoms of Gaucher disease and the history of the development of enzyme replacement therapy. He outlined the work of Genzyme in the field of rare diseases and how they are now working with other disorders such as: Pompe, MPS1, and Niemann-Pick Disease.
'It is important,' he said, 'to set up a solid infrastructure in each country to support physicians and patients to get the right treatment. He summed up by saying that. Genzyme is currently involved in a number of different projects for lysosomal storage disorders including a new Gaucher mouse model; a phase II clinical trial in late 2005 with their substrate inhibitor and an on going gene therapy programme.
'The meeting was concluded by highlighting the priorities in Russia to support patients and their families with Gaucher disease. Guidelines on rare diseases need to be developed and supported with funding; patient organisations need to continue to work together to pressurize Government to provide funding for treatment and to develop awareness amongst doctors all over Russia.
The main meeting was followed by meeting of the European Gaucher Alliance with Genzyme to discuss the logistical difficulties of getting humanitarian aid into Russia for patients who are seriously ill and need enzyme replacement therapy. The main difficulty in Russia is that Genzyme has had to apply to the Government for a special licence to import humanitarian aid into the country. However in the mean time Genzyme is communicating with Russian doctors to submit applications to ECAP for patients who are in need of free treatment.
Editor: I am pleased to report that since the meeting in May 2005, ECAP has approved 14 Russian patients for free treatmennt by humanitarian aid and Genzyme is now applying to the Government to import the drug into the country.
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Source: Gauchers News December 2005.
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