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.

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.

This research study is focused on patients who have Cystathionine beta synthase deficiency Homocystinuria (CBSDH). The purpose of this study is to test the safety and tolerability of an investigational drug called OT-58 (the study drug). An "investigational drug" is a drug that is being tested and is not approved by the U.S. Food and Drug Administration (FDA). Specifically, this study will measure how much OT-58 gets into the blood stream, how long it takes the body to get rid of it, and whether it reduces the amount of homocysteine in your blood.

This study will evaluate the safety and tolerability of RGX-111 in patients with Mucopolysaccharidosis Type I with a neurocognitive deficit that are at least 4 months old. This study involves administration of the RGX-111, general anesthesia, lumbar puncture, blood draws, MRI, ultrasound, electrocardiogram, echocardiogram, hearing test, and chart review.