Natural History of Homocystinuria

Contact

If you are interested in participating in the study or want to learn more, please get in touch.

This study is now recruiting. Learn more about enrolling here.

Description

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.

Eligibility and criteria

IRB Number:

16-012756

Eligible age range:

3 years - 65 years

Clinical trial phase:

N/A

Official title:

A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients - (NCT02998710)

What to expect

Related specialties

Division of Human Genetics

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