Orphan Technologies Receives Rare Pediatric Disease Designation from FDA for OT-58 to Treat Homocystinuria caused by Cystathionine B-synthase Deficiency

Rare metabolic disorder with no adequate treatment options

Causes skeletal abnormalities, osteoporosis, neurodevelopmental delay, and ophthalmologic abnormalities primarily affecting children

LEXINGTON, Mass.–(BUSINESS WIRE)–Orphan Technologies, a company dedicated to helping patients control their homocysteine levels, today announced that OT-58 for the treatment of homocystinuria caused by cystathionine beta synthase deficiency has been designated a rare pediatric disease (RPD) by the US Food and Drug Administration (FDA). Under the RPD program, if a new drug application for OT-58 is approved, Orphan Technologies is eligible to receive a priority review voucher that may be utilized for subsequent human drug applications. OT-58 has previously been granted both Fast Track Designation and Orphan Drug Designation by the FDA.

“Orphan Technologies’ longstanding mission is to reduce the disease burden of patients suffering from the devastating effects of homocystinuria,” commented J. Frank Glavin, CEO of Orphan Technologies. “Rare pediatric disease designation reflects the severe unmet medical need that children with homocystinuria face from birth through adulthood, and OT-58 represents a potentially life-changing new therapy for these patients. We look forward to the results of the ongoing Phase 1/2 trial of OT-58.”

About the Phase 1/2 Clinical Trial of OT-58 in Homocystinuria
The CBS-HCY-CT-01 study is a double-blind, randomized, placebo-controlled, Phase 1/2 study to assess the safety, tolerability, pharmacokinetics, pharmacodynamics, and clinical effects of OT-58 in patients age 12 with homocystinuria (HCU) caused by cystathionine beta-synthase deficiency. The primary endpoint of the Phase 1 portion of the study is safety. Secondary endpoints include evaluation of pharmacokinetic and pharmacodynamic parameters, and clinical effects of OT-58. More information on this OT-58 clinical study, including participation criteria, is available here.

About Homocystinuria
Classical homocystinuria (HCU) is a rare genetic metabolic disorder caused by a deficiency in the enzyme cystathionine beta synthase (CBS). CBS is a pivotal enzyme in the conversion of the amino acid methionine to homocysteine and then to cysteine. Classical HCU leads to significantly elevated levels of the amino acid homocysteine that can result in debilitating comorbidities in patients including severe cardiovascular, skeletal, neurologic and ophthalmologic complications. The current treatment for patients with classical HCU is a severely protein restricted diet and compliance with these dietary restrictions is extremely difficult, regularly resulting in inadequate metabolic control and lack of disease control.

About OT-58
OT-58 is a modified recombinant enzyme therapy in development for patients suffering from the rare disease classical homocystinuria. OT-58 is designed to help patients reduce their homocysteine levels and restore a normal lifestyle.

About Orphan Technologies
Orphan Technologies is dedicated to developing novel therapies to dramatically improve the lives of patients suffering from the rare disorder, classical homocystinuria, and related diseases. OT-58, our lead drug development candidate, has been optimized as an enzyme therapy for classical homocystinuria, a genetic disease characterized by debilitating cardiovascular, skeletal, neurologic, and ophthalmologic complications. OT-58 is designed to reduce homocysteine levels via a targeted mechanism of action and may have therapeutic applications in other diseases. For more information, please visit


Orphan Technologies
J. Frank Glavin