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Through this international multi-center study researchers will evaluate a new gene therapy treatment for patients who have never received treatment for Fabry disease or whose prior treatment was greater than 3 years ago. Fabry disease is a rare inherited and progressive genetic disorder that leads to damage of the kidneys, heart, and brain. Fabry disease is caused by a change in the GLA gene, which provides cells with instructions to make an enzyme needed by the body. This research uses stem cells collected from the patient that are then modified in the laboratory using AVR-RD-01 to correct the genetic deficiency. The modified stem cells, which are capable of producing the needed enzyme, are then returned to the patient via intravenous infusion with the expectation that the cells with the corrected gene will mature and replace cells responsible for Fabry disease.
Subject to certain exclusion criteria, this study is open to males ages 16 to 50 who have a confirmed diagnosis of classic Fabry disease.
Males: Ages 16-50
Following initial screening, selected candidates will be given a series of tests through the study’s 3-day baseline period. Selected participants then enter a 6- to 8-week period in which stem cells are collected and the participants undergo a conditioning regimen in preparation for the infusion, also called a transplant. After the stem cell transplant is completed, participants will be monitored for 48 weeks, with assessments done daily for one week and continuing with diminishing frequency over 11 months. Upon completion of the 48-week monitoring period, participants will be invited to continue to be followed for 14 additional years.
Visits: About 28 visits, including hospitalization for conditioning and transplant
Duration: About 64 weeks with option to participate in 14-year long-term study
Study Description at National Institutes of Health
Medical Genetics Research
Damara Ortiz, MD
For more information about the study or enrollment, please contact:
Michele Graham, RN, Clinical Research Coordinator
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