European Working Group on Gaucher Disease - Sixth Workshop

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Two hundred delegates including physicians and other medical staff, scientists, pharma-ceutical companies and patient representatives from 17 European Gaucher Associations met at the sixth workshop of the European Working Group on Gaucher Disease in Barcelona on 14-16 October 2004. Susan Lewis reports:

The sixth workshop of the European Working Group on Gaucher Disease (EWGGD) on 14-16 October 2004 gave delegates the chance to hear up to date reports on scientific discoveries and research and discuss their implications after the presentations. Not all the highly technical details can be reported but some of the highlights are described here.

The opportunity for both scientists and medical professionals to learn from each other and the ability for patient representatives to appreciate the work that is being carried out, reinforced the importance of this meeting.

Prof Hans Aerts from the University of Amsterdam and Chairman of the EWGGD welcomed the delegates, stressing the importance of scientific research: both fundamental research carried out in laboratories which enables industry to develop treatments; and clinical research depending on the participation of patients and the communicating skills of patient associations to inform families of the potential significance and importance of studies.

Prof Amparo Chabás of the Institut de Bioquimica Clinica in Barcelona, who with her colleagues including Prof Lluïsa Vilageliu organised the meeting, also welcomed the 200 delegates.

Prof Ernest Beutler of the Scripps Research Institute in California spoke about the genotype/phenotype relationships in haematology. He explained that that patients who inherit the same genetic mutations for a disease may have varying severity of symptoms, even in identical twins. In Gaucher disease, among the Jewish Ashkenazi community, there were many patients who were never aware of symptoms. He added: 'My view is that it is worth screening for a disease if it can be treated and if a significant proportion of patients need treatment. It would depend on the frequency of the disease, the risks and costs of screening and the effectiveness of the treatment' .

He said that environmental factors, for instance medications such as anti-malarial drugs and anaesthetics, may play a role as well as diet, alcohol and smoking. In some blood disorders, there may also be genetic modifiers but he felt that genetic modifiers were unlikely to be the only cause of variation in Gauchers disease because this would have shown up in studies where identical twins with different severity of symptoms were examined.

With regard to enzyme replacement therapy in Gaucher disease, he said: Despite its ability to help many patients, some appear to respond poorly to the drug when administered at any dosage and this may have a genetic basis.'

More EWGGD Information

Incidence of malignancies

Dr Ari Zimran, who heads the Gaucher Center in Jerusalem, said that the overall incidence of cancers including haematological cancers in Type 1 Gaucher disease is not increased in his survey of over 507 patients. However one cancer, multiple myeloma, is shown be increased relative to the general population.

Identical Twins

Dr Mirjam Langeveld from the Academic Medical Center in Amsterdam spoke about two women age 22 years who are identical twins. Both were confirmed to have the same low level of glucocerebrosidase activity and genotype, as expected, but while one sister has clear clinical symptoms of Gaucher disease with fatigue, an enlarged spleen and liver, anaemia, low platelet count and bone pain in her hands and lower legs with no signs of arthritis, the other sister has diabetes but no clinical signs of Gaucher disease.

Parkinsonian syndromes

Dr Robin Lachmann, of the University of Cambridge Dept of Medicine, spoke about five adult patients attending the Gaucher clinic at Addenbrooke's Hospital in the UK who have evidence of central nervous system involvement: two with stable Type 3 Gaucher disease and three Type 1 patients who have developed Parkinsonian symptoms. These include movement difficulties, tremor and stiffness in the limbs. Of the three patients with Parkinsonian symptoms, two are N370S homozygotes (both genetic mutations are N370S) and the third is an R403C homozygote. In these rare patients the Parkinsonian symptoms have been progressive and challenging although all patients are currently showing encouraging progress.

Dr Hanna Rosenbaum from the Rambam Medical Centre in Israel also spoke about Parkinsonian symptoms in carriers of Type 1 Gaucher disease. In a randomised selection of Israeli Askenazi patients suffering from Parkinson disease, a high frequency of mutations, mainly N370S, was detected in them

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Source: Gauchers News May 2005.
Copyright © Gauchers Association 2005.