Division of Human Genetics Clinical Studies

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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.

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.

Hunter Syndrome JR-141 Study

The purpose of this study is to find out if JR-141, an experimental drug, works better than the standard treatment, idursulfase, for MPS II (Hunter Syndrome) and how safe and effective it is in the management of central nervous system symptoms (such as brain or body function loss) and other body symptoms (including lungs, ears, heart, kidneys, and eyes, as well as any type of liver, bone or joint abnormalities) related to MPS II. Since JR-141 is an investigational drug, it has not been approved by the Food and Drug Administration (FDA).

PRISM and CFN for PMD

Primary mitochondrial diseases (PMD) are a group of energy deficiency disorders that are typically progressive and range in onset and severity. Individuals with PMD experience a variety of clinical symptoms that not only affect their physical health but significantly impact their daily life.

The goal of this study is to find the best way to help adults with PMD deal with the stress of their condition, and to help them be better able to “bounce back,” or be resilient. In order to do this, we are going to test two interventions. The first is called Promoting Resilience in Stress Management (PRISM). The second is called clinical-focused narrative (CFN) intervention.

The study period will last for about one month and will consist of five online visits and a one-time online discussion group.
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