Rare Daily Staff

Retrophin said that its late stage therapy for the rare neurodegenerative condition PKAN did not meet is primary or secondary endpoints in a phase 3 study evaluating its safety and efficacy compared to placebo.

PKAN, or pantothenate kinase-associated neurodegeneration, is a life-threatening disorder characterized by a host of progressively debilitating symptoms that typically begin in early childhood. People suffering from PKAN may experience movement disorders such as dystonia (sustained muscle contraction leading to abnormal posture), rigidity, dysphagia (problems swallowing), and twisting and writhing, as well as visual impairment. PKAN is estimated to affect up to 5,000 people worldwide.

PKAN is caused by a mutation in the PANK2 gene, which encodes a critical protein that phosphorylates vitamin B5 (pantothenate), generating phosphopantothenate. The disruption of this metabolic pathway ultimately leads to decreased levels of coenzyme A (CoA), which is essential in biochemical reactions impacting energy metabolism, membrane integrity, signaling and other critical processes.

The FORT study was an international, randomized, double-blind, placebo-controlled, phase 3 clinical trial assessing the safety and efficacy of fosmetpantotenate in 84 patients with PKAN. Patients received either three times-daily dosing of fosmetpantotenate or placebo over 24 weeks. The primary endpoint in the study was the change from baseline in the PKAN-ADL scale through 24 weeks of treatment. After completing the 24-week treatment period, all patients were eligible to receive fosmetpantotenate as part of an open-label extension. Fosmetpantotenate was observed to be generally safe and well-tolerated in the study.

Retrophin expects to further analyze the data and \present it at an upcoming scientific congress. It will be working with study investigators to determine the appropriate next steps for the FORT study, including the ongoing open-label extension of the study.

“We are very disappointed in the topline results from the FORT Study, particularly because we have seen the devastating impact of PKAN on patients and their families, and a significant unmet need remains with no approved treatment option,” said Eric Dube, CEO of Retrophin. “We will work closely with the investigators to further analyze the results of the study and share them with the PKAN community to contribute to the growing knowledge of this rare disorder.”

Photo: Eric Dube, CEO of Retrophin

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