5th European Working Group on Gaucher Disease Workshop

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The European Working Group on Gaucher Disease (EWGGD) held its 5th Workshop in Prague in Czech Republic on 1-4 May 2002. Susan Lewis reports:

Over 150 delegates including doctors, scientists, nurses, patients' represen-tatives and pharmaceutical companies met in the beautiful city of Prague on 1-4 May 2002 to hear talks about aspects of Gauchers disease ranging from symptoms including neurono-pathic disease to different forms of therapy and the molecular and bio-chemical aspects of Gaucher disease. They also heard about the work of the European Gaucher Alliance.

UK speakers were Prof Timothy Cox, Dr Atul Mehta, Dr Ashok Vellodi and Dr Patrick Deegan. Two Dutch students spoke about their research project on Vitamin D at the University of Cambridge. Prof Siamon Gordon of the University of Oxford opened the proceedings with a scientific talk on the Recognition and Responses of Macrophages.

At the opening session, local organiser Dr Martin Hrebicek of the Institute of Inherited Metabolic Disorders in Prague, welcomed the delegates saying that the 5th Workshop of the EWGGD was the first to be hosted in a former Communist country. He particularly welcomed the participation of the patients' representatives and thanked pharmaceutical companies, Genzyme Corporation and Oxford Glyco Sciences, for sponsoring the meeting which allowed the registration fees to be as low as possible.

Prof Hans Aerts of the Academic Medical Center in Amsterdam and Chairman of the EWGGD said the workshop was an open platform for all delegates involved with Gaucher disease to contribute.

Defective Platelet Function Dr Patrick Deegan of the Dept of Medicine, University of Cambridge, spoke about a defect in the platelet function in some patients with Gaucher disease which causes excessive bleeding despite a normal platelet count.

In a survey of 19 patients, 12 had a defective platelet function which is similar to another bleeding disorder called Bernard-Soulier Syndrome. In some but not all of the affected patients, enzyme replacement therapy has rectified the fault. Treatment with a drug called desmopressin can also rectify this and is being investigated for use during surgical procedures.

Vitamin D Deficiency

Two Dutch students Shirin Feshtali and Leoniek Smit from the Univer-sity of Amsterdam spoke about their study of Vitamin D deficiency in patients with Gaucher disease which they undertook at the University of Cambridge. This was a joint study between the two universities.

The blood of 80 patients was analysed and 34 patients were found to have concentrations of Vitamin D two standard deviations below the age and sex matched seasonal values in a healthy population control group. The researchers' final conclusion was that although continued vigilance is needed, no evidence of functional vitamin D deficiency or excess of the vitamin as a result of Gaucher disease was found. This research was partly supported by a grant from the UK Gauchers Association.

Response of 1,028 Patients to 2-5 Years Enzyme Therapy

Data from 1,028 patients with Type 1 Gauchers disease in the Gaucher Registry was analysed by Prof Pram Mistry of Yale Medical School to see how they had improved over a two to five year period. The Gaucher Registry was established to describe the natural history of Type 1 Gaucher disease and its response to enzyme replacement therapy. Physicians world-wide managing patients with Gaucher disease submit data.

Assessment of response includes measurements of haemoglobin concentration, platelet count, liver and spleen volumes and occurrence of bone pain and bone crises.

Prof Mistry concluded that long term enzyme replacement therapy over two to five years prevents progressive manifestations of Type 1 Gaucher disease and completely or partially reverses anaemia, thrombocytopenia (low platelets), enlargement of the liver and spleen, and bone pain. The data indicates that there is a dramatic reduction in the incidence of bone crises.

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Source: Gauchers News October 2002.
© Copyright Gauchers Association 2002