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Genetics Research


MTAP: The purpose of this study is to provide adult patients with Pompe disease in the US access to Myozyme produced from a scaled up manufacturing process for a limited time until production as this scale is approved for commercial use by the Food and Drug Administration.

AMICUS: This study will measure the effect of AT1001 treatment on GL-3 levels in the kidney. GL-3 in the kidney will be measured in two different ways: by taking samples (biopsies) of tissue from the kidney to look at GL-3 buildup (inclusions) in certain cells, and by measuring the levels of GL-3 in the urine. In addition, the effects of AT1001 treatment on kidney function, heart function, and health status will be studied.  This study will test AT1001 in people with Fabry disease who have never received treatment with enzyme replacement therapy (ERT) for their disease or who have not received ERT in the last 6 months.

Protalix: The purpose of this study is to assess the safety of prGCD in patients with Gaucher disease who require Enzyme Replacement Therapy (ERT), due to a shortage of imiglucerase product.