Orphan Technologies, a Swiss pharmaceutical company, has officially dosed the first patients in its groundbreaking phase 1/2 clinical trial, CBS-HCY-01, for OT-58, a modified recombinant enzyme therapy aimed at treating classical homocystinuria (HCU). This rare and debilitating metabolic disorder leads to severe cardiovascular, neurologic, skeletal, and ophthalmologic complications, and currently lacks effective treatment options.

OT-58 is designed to significantly lower tissue and plasma homocysteine levels, a key cause of the disease. By reducing these elevated levels, OT-58 may prevent, delay, or even reverse the clinical abnormalities associated with HCU, while also lifting the dietary restrictions that patients often have to follow.

CBS-HCY-01 trial evaluates potential for OT-58 to transform HCU treatment

The CBS-HCY-01 trial will assess the safety, tolerability, pharmacokinetics, pharmacodynamics, and clinical effects of OT-58 in patients with cystathionine beta-synthase deficient homocystinuria, a subset of the disorder. The trial is expected to enroll up to 20 patients, with the primary endpoint focusing on safety, while secondary endpoints will evaluate pharmacokinetic and pharmacodynamic parameters, among others.

Expert opinion highlights the urgency for treatment

Danae Bartke, Executive Director of HCU Network America, expressed the urgent need for new treatment options for HCU patients. She pointed out the severe effects of the disorder on multiple organ systems and emphasized the lack of effective therapies to address the life-threatening consequences of HCU. Bartke described OT-58 as a “potentially transformative therapy” that could offer hope to patients suffering from elevated homocysteine levels.

CEO’s commitment to advancing HCU care

J. Frank Glavin, CEO of Orphan Technologies, reiterated the company’s commitment to alleviating the burden of homocystinuria patients, who currently have limited therapeutic options. Glavin expressed confidence in OT-58’s potential to make a dramatic difference and revealed that, in parallel with the clinical trial, Orphan Technologies is conducting a comprehensive natural history study to further understand and treat this rare, underserved condition.

In 2013, Orphan Technologies entered into exclusive, worldwide licensing and collaboration agreements with The University of Colorado to develop OT-58 for cystathionine beta-synthase deficient homocystinuria.

  CBS-HCY-01, Classical homocystinuria, Danae Bartke, homocystinuria, J. Frank Glavin, Orphan Technologies, OT-58, Switzerland, University of Colorado