Amylyx Pharmaceuticals has received Orphan Drug Designation from the European Commission for AMX0035, its proprietary combination of sodium phenylbutyrate (PB) and taurursodiol (TURSO) for treating Wolfram syndrome. This designation follows a positive opinion from the Committee for Orphan Medicinal Products (COMP) of the European Medicines Agency (EMA).
Wolfram syndrome is a rare, progressive disease marked by early-onset diabetes mellitus, optic nerve atrophy, deafness, diabetes insipidus, and neurodegeneration. There are currently no approved treatments for this condition, which often leads to severe neurological disabilities and premature death.
AMX0035 had previously received Orphan Drug Designation from the FDA in 2020. The EMA grants this status to drugs intended for rare, life-threatening, or chronically debilitating conditions where the treatment offers significant benefits over existing options.
Recent interim data from Amylyx’s Phase 2 HELIOS study showed that AMX0035 improved pancreatic function and glycemic control in eight participants with Wolfram syndrome. The results indicated stabilization or improvement in disease symptoms, with most participants reporting some vision improvement. The drug was generally well tolerated, and topline data from all 12 participants is expected this fall.
Dr. Camille L. Bedrosian, Chief Medical Officer at Amylyx, emphasized the strong preclinical support for AMX0035, noting its potential to target endoplasmic reticulum stress and mitochondrial dysfunction. The company looks forward to further results from the HELIOS study and aims to address the critical unmet need for Wolfram syndrome treatments.
About Wolfram Syndrome
Wolfram syndrome is a rare, progressive genetic disorder characterized by childhood-onset diabetes, optic nerve atrophy, and neurodegeneration. Common symptoms include diabetes mellitus, optic nerve atrophy, central diabetes insipidus, sensorineural deafness, and neurogenic bladder. The prognosis is poor, with many affected individuals experiencing severe neurological disabilities and early death. Approximately 3,000 people in the U.S. are estimated to have Wolfram syndrome.
About AMX0035
AMX0035 is an oral, fixed-dose combination of sodium phenylbutyrate and taurursodiol. It is designed to address neurodegeneration by targeting both endoplasmic reticulum stress and mitochondrial dysfunction. Preclinical studies suggest that this combination is more effective in preventing neurodegeneration than either component alone. AMX0035 is also being investigated for other neurodegenerative diseases, including progressive supranuclear palsy (PSP).
About the HELIOS Trial
The HELIOS trial (NCT05676034) is a Phase 2 open-label study evaluating the safety, tolerability, and efficacy of AMX0035 in 12 adult participants with Wolfram syndrome. The trial assesses various measures of endocrinological, neurological, and ophthalmologic function.
