Lysosomal Storage Disease (LSD) Center Clinical Trials

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MPS II Gene Transfer (CHAMPIONS)

The CHAMPIONS clinical research study is looking for people 5 years and over with MPS II to test SB-913, a type of investigational gene therapy called genome editing. SB-913 consists of a substance (called a vector or carrier) that carries a healthy IDS enzyme for processing large molecules in the body. Study participants will receive a single infusion of SB-913 into a vein. The gene that will create the working IDS enzyme will then be carried through the bloodstream to the liver. Doctors are studying SB-913 to see if it’s safe and tolerable, and learn more about its effectiveness at enabling your body to process large molecules on its own. For more information about the study, visit the CHAMPIONS website at: http://mps2study.com/ or contact the CHOP study team via the information below.

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.

Natural History of PMM2-congenital disorder of glycosylation

The goal of this natural history study is to collect clinical and biological information from patients with PMM2-CDG over 3 years. This study does not involve any investigational medications, but will provide information to researchers who are currently developing a medication to treat the disease. Participants in this study may be invited to take part in the upcoming drug study. This natural history study includes: physical exams, blood draws, ECG and Echos, developmental testing, ophthalmology exams, and liver assessments. If you have any of these procedures scheduled as routine appointments, you will not need a duplicate exam. If they are not part of your routine visits, the cost of exams will be provided free of charge. To learn more about the study, please contact our team via the information listed below.