Orphan Technologies starts OT-58 trial for homocystinuria treatment breakthrough

Swiss pharmaceutical company Orphan Technologies has begun dosing patients in a Phase 1/2 trial (CBS-HCY-01) to assess the safety and efficacy of its modified recombinant enzyme therapy, OT-58, for treating classical homocystinuria (HCU). This rare and debilitating metabolic disorder is characterized by dangerously high levels of homocysteine, leading to severe cardiovascular, neurological, skeletal, and ophthalmic complications. The innovative therapy, OT-58, aims to significantly lower both tissue and plasma homocysteine levels, potentially preventing, delaying, or even reversing the devastating clinical manifestations of the disease.

Orphan Technologies aims to transform treatment for homocystinuria patients

Classical homocystinuria, caused by a deficiency in cystathionine beta-synthase, is a life-threatening condition for which no effective treatment currently exists. Patients often suffer from a range of debilitating symptoms, including cognitive decline, eye damage, skeletal abnormalities, and heart issues. The OT-58 therapy could revolutionize the treatment landscape, offering the first real hope for patients with this underdiagnosed and underserved condition. According to Danae Bartke, Executive Director of HCU Network America, the launch of the CBS-HCY-01 trial is a pivotal moment in the fight against HCU. She remarked that, “Patients living with homocystinuria today suffer from severe side effects of the ophthalmic, skeletal, cardiovascular and neurocognitive systems yet there are no effective treatments for this disease. Many patients remain at risk for the life-threatening consequences of HCU. OT-58 is a potentially transformative therapy for patients with any elevated level of homocysteine.”

Details of the CBS-HCY-01 trial and what’s at stake

The CBS-HCY-01 clinical trial will evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics, and potential clinical effects of OT-58 in patients with cystathionine beta-synthase deficient homocystinuria. Up to 20 patients will be enrolled in the study, which will assess primary endpoints related to safety and secondary endpoints exploring pharmacokinetic and pharmacodynamic parameters. The trial represents a major milestone for Orphan Technologies in its mission to provide effective treatments for this challenging condition.

J. Frank Glavin, CEO of Orphan Technologies, emphasized the company’s commitment to improving the lives of those affected by homocystinuria. “Orphan Technologies is committed to reducing the burden of patients suffering from homocystinuria, who currently have no viable treatment options,” he stated. He went on to add, “We believe that OT-58 may be a dramatic advance for these patients and we look forward to the results of this new study. In parallel, we are conducting a comprehensive and prospective natural history study of patients with classical homocystinuria as part of our exhaustive approach to understanding and treating this underdiagnosed and underserved disease.”

The long road ahead: A commitment to improving rare disease care

The company’s partnership with the University of Colorado began in 2013, under an exclusive global licensing agreement aimed at developing this enzyme replacement therapy for cystathionine beta-synthase deficient homocystinuria. The collaboration underscores the company’s ongoing efforts to combat this complex and rare disease, with the potential to change the treatment paradigm for affected patients worldwide.

As the Phase 1/2 trial progresses, the results could pave the way for broader therapeutic options for patients grappling with the severe challenges of classical homocystinuria, marking a significant leap forward in rare disease treatment innovation.