Natural History Study of CBS Deficiency
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 exam (DXA scan), blood draws for important health tests, comprehensive eye exam, cognitive testing, and physical exams. To learn more about the study and see current locations, please click on this link