OT-58 – Homocystinuria

OT-58 is being developed as an innovative enzyme replacement therapy (ERT) for the treatment of Homocystinuria.

About Homocystinuria (HC)

 Source: Kraus’ lab, University of Colorado School of Medicine

HC is a rare, devastating, genetic disorder caused by the lack or absence of active Cystathionine Beta-Synthase (CBS) enzyme. Individuals with this disease are unable to fully metabolize methionine, an amino acid found in nearly all foods, and this leads to accumulation of toxic levels of related metabolites, which in turn causes medical complications and early death.

Clinical features of HC are serious, some are life-threatening and some significantly affect quality of life. The most common symptoms include mental retardation, lens dislocation (leading to blindness if not treated), thromboembolism (a major cause of patients’ early death), skeletal manifestations, osteoporosis, and seizures.

Current Treatment options include a methionine-restricted diet and supplementation with betaine.   Betaine does not restore the deficient enzyme and therefore cannot normalize all metabolic abnormalities.

About OT-58

OT-58 as an enzyme replacement therapy, corrects the underlying cause of the disease by restoring the normal metabolism of methionine.  This therapeutic approach avoids accumulation of toxic levels of metabolites, which further avoids the appearance of new symptoms or the deterioration of existing symptoms, thereby representing a potentially ideal therapy for HC.

How you can help

OT 58 is currently in late stage pre-clnical development. First-in-human clinical trials are scheduled to start shortly. In addition, as part of our regulatory and development, Orphan Technologies is conducting a natural history study. The goal of this study is quantify the disease progression in terms of quality of life and clinical parameters.

If you would like to participate in our Natural History Study please email us at the following email: info@orphantechnologies.com

Links for Patients: http://www.hcunetworkaustralia.org.au/hcu/