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The purpose of this study is to determine how well migalastat HCL (AT1001) works over a long period of time for people with Fabry disease, a genetic disorder that results in lower-than-normal levels of an enzyme that helps the body break down certain fatty substances present in most cells of healthy humans. With Fabry disease, the low enzyme levels lead to a buildup of fatty substances in several tissues such as the kidneys, heart, skin, and blood vessels. The increased level of these fatty substances, particularly one called GL-3, is believed to cause the symptoms of and difficulties experienced in Fabry disease. Researchers believe that migalastat increases levels of the needed enzyme and helps it work better.
Subject to certain exclusion criteria, the study is accepting patients of both genders ages 18 and older who have a confirmed diagnosis of Fabry disease who completed treatment in the prior, shorter-term study of migalastat.
Males and Females: Age 18 and older
Participants will begin their enrollment in this study upon completion of their participation in the precursor study. All participants will take the study drug every other day for the duration of the study and will be seen by study doctors every 6 months for physical examination and testing. Beyond consent for inclusion, no further patient actions are required.
Duration: 5 years
Study Description at National Institutes of Health
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Michele Graham, RN
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UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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