Natural History Study

Natural History Study

What is the natural history study?

Orphan Technologies is conducting the first-ever prospective natural history study of patients with classical homocystinuria to better understand how homocystinuria progresses over time and to help design new treatments for patients living with homocystinuria.

The goal of this study is to observe patients with classical HCU over 3 years to learn how their disease is managed under standard care. 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, blood draws, ophthalmology exam, cognitive testing, and physical exams. Patients between the ages of 5 and 65 years of age with classical HCU may be eligible to join.

How You can participate

Please contact for more information.

For more information on our OT-58 Phase 1/2  Enzyme  Therapy Clinical Trial:

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