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Natural History Study

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: bone scan (DXA), blood draws, ophthalmology exam, cognitive testing, and physical exams. Patients between the ages of 5 and 65 years of age with CBSDH may be eligible to join. For more information, please click here or contact us at