Natural History of Homocystinuria



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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.

Who Do I Contact?

If you are interested in participating in the study or want to learn more please contact our study team at MajumdarM [at] or 267-426-1368. Identifier

Eligibility & Criteria

IRB #:
Official Title:
A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients
Eligible Age Range:
3 - 65 Years
Study Categories: