Israeli Gaucher Association Meeting 2000

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The Israeli Gaucher Association Meeting was held on 5 September 2000 in Jerusalem to which delegates from the European Gaucher Alliance meeting were invited. Dr Gregory Grabowski spoke on 'Summarising 10 years of Enzyme Replacement Therapy' and Prof Ari Zimran on 'New Therapeutic Approaches to Gaucher Disease'.

Mr Sandy Smith of Genzyme Therapeutics thanked the Israeli Gauchers Association for the opportunity to address them and said that the year 2000 was the 10th anniversary of enzyme replacement therapy for Gauchers disease.

The safety and efficacy of the two drugs Ceredase and Cerezyme were unprecedented. Nearly 3,000 patients are receiving enzyme replacement therapy in 56 countries. Thanks to the scientists and physicians, patients are leading full and productive lives and play a valuable role in society.

But more work needs to be done which includes sustained release enzyme, small molecule therapy (eg substrate deprivation), and gene therapy. He advocates improved screening of children and early diagnosis.

Dr Chris Moyses said that Oxford GlycoSciences was the first biotech company founded by Oxford University. The company has 200 employees and has two strengths: proteomics (discovering which proteins which are over or under expressed in people cause disease) and drug development.

OGT918 (Vevesca) is on clinical trial for two conditions: Gaucher Disease and Fabry disease.

Dr Gregory Grabowski, Director of Human Genetics at the Children's Hospital, Cincinatti, described the status of enzyme replacement therapy in patients in the last 10 years and spoke about the collaboration of academics and industry. Progress was also due to the patients participation.

He spoke also about his forthcoming Fosamax trial: Fosamax or placebo, both with vitamin D 400u and 1500 mg calcium. 82 patients will take part in a 24 month, double blind, trial randomised for age, severity and dose. The results will be available in 24 months although an interim report should be available earlier.

Prof Ari Zimran said that even in Israel, many GPs don't see a single patient with Gauchers disease. Some patients don't hear about treatment and he gave an example of someone who has severe disease but who felt he did not meet the criteria for treatment. He also spoke about his research into OGT 918.

Prof Zimran expressed concern about the use of portacaths and the risks involved. A portacath is a device which is inserted under the skin with a tube which enters a vein. This may allow easier access for intravenous infusions than using a peripheral vein n the hand or arm. He said that it is necessary to have a skilful surgeon to insert one. The device could get infected and it was important to teach septic care. There was a possibility of getting a thrombosis (blood clot) and if the portacath gets blocked, it cannot be used and the patient may need a new one. If the clot gets detached, it could go to the lung. It is important to flush the portacath regularly with heparin (a drug which prevents blood clotting).

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Source: Gauchers News March 2001.
© Copyright Gauchers Association 2001