What is Homocystinuria?
Classical homocystinuria, or HCU, is a rare metabolic condition which its caused by a deficiency of the CBS enzyme. It results in high levels of homocysteine in the body which leads to visual, skeletal, cardiovascular, and neurologic issues.
Unfortunately, the only current treatment option is a diet highly restricted in protein. Since this diet is so extreme, compliance is difficult. When the diet is not adhered to, the disease is not controlled.
It’s clear a new option is needed for these patients. Thankfully, Orphan Technologies has just announced that their investigative therapy for the disease has received Rare Pediatric Disease Designation by the FDA. This designation means that if their drug application is approved, they will be given a priority review voucher. This voucher can be used for future applications.
The Phase 1/2 Clinical Trial
OT-58 is an enzyme therapy which works to reduce the amount of homocysteine in the body. It has already received Orphan Drug Designation and Fast Track Designation.
Currently, OT-58 is being studied in an ongoing Phase 1/2 trial called CBS-HCY-CT-01. It is a placebo-controlled, randomized, and double-blind investigation. Researchers will examine the safety (primary endpoint of Phase 1), clinical effects, pharmacodynamics, pharmacokinetics, as well as the tolerability of the therapy.
Participants in the trial are 12 years old and have been diagnosed with HCU.
You can read more about this trial and investigative therapy here.
