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Fabry's disease

Fabry's disease (or Angiokeratoma corporis diffusum) is a lysosomal storage disease caused by deficient alpha galactosidase. more...

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Fabry's disease
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Symptoms

Some of the pathological symtoms includes skin lesions, febrile episodes, burning in extremities. Skin lesions are painless elevated papules that appear all over body. Ocular involvement may present and showing vortex keratopathy. Death in early adulthood usually due to renal failure because of proteinuria induced hypertension.

Treatment

Treatment of Fabry's disease until recently was just symptomatic. This is changing with the drug Agalsidase beta (Fabrazyme®). Problematic is that the cost of the drug (approximately $170,000 US a year/patient) remains a barrier to many patients in some countries.

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Genzyme completes phase IV study of Fabrazyme for Fabry's disease
From Journal of Drugs in Dermatology, 11/1/04

Genzyme has successfully completed its principal Phase IV study of Fabrazyme (recombinant alpha galactosidase beta) and performed a preliminary analysis of the results. Completing this study was one of several requirements specified by the FDA when it approved the product for the treatment of Fabry disease in April 2003. Fabry disease is a very rare and potentially fatal X-linked recessive lysosomal storage disorder caused by an enzymatic defect in alpha-galactosidase A. The disease can result in renal failure, heart disease, sinopulmonary infections and stroke. Dermatologic manifestations of Fabry disease include angiokeratoma corporis diffusum and hypohidrosis. Fabrazyme was granted accelerated approval in April 2003 under orphan drug status. Genzyme plans to submit a summary study report to the FDA this month.

COPYRIGHT 2004 Journal of Drugs in Dermatology, Inc.
COPYRIGHT 2005 Gale Group

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