RARE Daily

Orphan Technologies Receives Rare Pediatric Disease Designation for HCU Treatment

March 27, 2020

The U.S. Food and Drug Administration has granted Rare Pediatric Disease designation to Orphan Technologies’ OT-58 for the treatment of cystathionine beta synthase deficiency homocystinuria.

Photo: Frank Glavin, CEO of Orphan Technologies

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.

“Orphan Technologies’ longstanding mission is to reduce the disease burden of patients suffering from the devastating effects of homocystinuria,” said 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.”

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

It is currently in a phase 1/2 double-blind, randomized, placebo-controlled study to assess its safety, tolerability, pharmacokinetics, pharmacodynamics, and clinical effects in HCU patients age 12 who have cystathionine beta-synthase deficiency.

The FDA grants Rare Pediatric Disease designation for serious or life-threatening diseases with manifestations in individuals aged from birth to 18 years, including access to the FDA’s expedited review and approval process. The designation makes ARU1801 eligible for a Rare Pediatric Disease Priority Review voucher upon approval of the therapy by the FDA.

The vouchers can be used to reduce the time of an FDA new drug approval review to six months from ten months. The vouchers are potentially lucrative because they are transferable. Most recently, Sarepta sold its Rare Pediatric Disease voucher to Vifor Pharma $111 million in February 2020.

Editor’s note: This story was updated to correct the most recent sales of a Rare Pediatric Disease voucher.

Author: Rare Daily Staff

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