Clinical Trials

Clinical Trials

Orphan Technologies is dedicated to helping patients control their homocysteine levels. Our focus is on the development of OT-58 to achieve this goal but there are many other sources of support for patients with homocystinuria.

now enrolling
OT-58 Phase 1/2  enzyme  therapy clinical trial

Orphan Technologies will initiate a first-ever human study of OT-58, a modified version of the human enzyme that is not functioning well in patients with classical homocystinuria. The goal of this trial is to evaluate the safety and efficacy of OT-58 in patients with classical homocystinuria and identify the appropriate dose. Patients between the ages of 12 and 65 years of age with classical homocystinuria may be eligible to join.

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Natural History Study

Orphan Technologies is conducting the first-ever prospective Natural History Study of Patients with CBSDH so that we can better understand how homocystinuria progresses over time and also to help design new treatments for patients living with homocystinuria.

The goal of this study is to observe patients with 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 scan, blood draws, ophthalmology exam, cognitive testing, and physical exams. Patients between the ages of 5 and 65 years of age with CBSDH may be eligible to join. For more information, please click here or contact us at

Additional Resources
Patient Support

NATIONAL INSTITUTES OF HEALTH GENETICS HOME REFERENCE: provides a guide to understanding Genetic Conditions including homocystinuria

NORD – The National Organization for Rare Disorders provides tools, resources, and patient assistance programs for patients with rare diseases including homocystinuria

HCU NETWORK AUSTRALIA: is a Health Promotion Charity established in 2014, with the vision “to be a driving force in the journey to a cure, improving quality of life along the way”.

HCU NETWORK AMERICA: is a US patient advocacy organization that strives to inform and provide resources for patients, families, create connections, influence state and federal policy, and support advancement of the diagnosis and treatment for HCY and related disorders.

Patient Nutrition Resources

MEDSCAPE: a medically focused website with information on homocystinuria