Natural History Study of CBS Deficiency

Natural History Study of CBS Deficiency

Currently enrolling patients.

The goal of this study is to observe patients with Homocystinuria (CBSDH) upto 7 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

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Travere Medical Information


In November 2020, Retrophin Inc. acquired Orphan Technologies, thus also acquiring OT-58 and their Natural History Study. Shortly after, Retrophin Inc. rebranded as Travere Therapeutics. You may see still publications and studies under the Orphan Technologies title, but it's important for people to know that Travere Therapeutics now retains all the information regarding those studies.


Publications regarding the Natural History Study of CBS Deficiency