Division of Human Genetics Clinical Studies

1 - 2 of 2

RGX-121 Gene Therapy in Patients With MPS II (Hunter Syndrome)

The purpose of this study is to look at the safety and tolerability of RBX-121, a one-time gene therapy, in subjects with MPS II (Hunter Syndrome). You may be eligible for this study if you are a male between the ages of 4 months to 5 years old. Reimbursement for travel and research procedures will be provided. This study involves blood draws, interviews, urine collection, genetic testing, general anesthesia, lumbar punctures, MRI, gene therapy, lumbar puncture, ultrasound, ECG/echocardiogram and physical and neurological examinations. If you have questions or would like to learn more about the study, please contact the study team at MetabolismResearch@email.chop.edu.

Natural History of Homocystinuria

The goal of this study is to observe patients with Homocystinuria (CBSDH) over 3 years to learn how their disease is managed under regular circumstances. This study does not involve any investigational medications, but will provide information to researchers who are currently developing a medication to treat the disease. The study has 5 main parts, all of which are provided free of charge to participants: DXA exam, blood draws, ophthalmology exam, cognitive testing, and physical exams. To learn more about the study, please contact our team via the information listed below.
1 - 2 of 2