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The purpose of this study is to assess the safety and potential effectiveness of a single dose of PR001A, a type of gene therapy, in infants with Type 2 Gaucher disease (GD2). PR001A is designed to deliver a normal GBA1 gene copy into the body to increase the activity of a specific protein called glucocerebrosidase or “GCase,” which is low in GD2 patients. When levels of GCase are low, the body cannot break down fatty chemicals, and they build up in the body’s cells. These processes are believed to contribute to the onset and severity of neurologic and other symptoms associated with GD2.
Subject to certain exclusion criteria, this study is enrolling participants from birth through 24 months of age who have been diagnosed with GD2.
Males and Females: Birth through 24 months
Following screening visits, eligible participants will receive a single dose of PR001A during a 48-hour inpatient stay at UPMC Children’s Hospital of Pittsburgh. After that, participants will return to the hospital over a 5-year period for examinations, testing, imaging, and blood draws in accordance with the protocol.
Visits: Up to 15, including hospitalization for initial drug treatment
Duration: 61 months (5 years and 1 month
Study Description at National Institutes of Health
Neurodevelopment in Rare Disorders Research
Maria L. Escolar, MD, MS
For more information about the study or enrollment, please contact:
Alexandria Falcon-Assadian, Clinical Research Coordinator
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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