Metabolic Disease Program Clinical Studies

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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, ophthalmology exams as well as optional Echos, developmental testing, 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.

MPS Biomarkers of Joint Disease

The purpose of this study is to establish connections between biomarkers (a measurable substance in your blood, urine, or saliva) and the stage and grade of bone and cartilage disease in MPS patients. 

GM1 Gangliosidosis Gene Therapy Study

The purpose of this study is to test and find a safe dose of this investigational gene therapy PBGM01 (also known as, the “study drug”) in children who have been diagnosed with the early infantile or late infantile form of GM1. The study will also try to determine how PBGM01 might affect the GM1 disease course over time. The study drug is investigational, which means it has not been approved for marketing by the FDA. This study is the first time PBGM01 will be given to humans, so we do not know for sure if participants will benefit from this study.