Edison Pharmaceuticals today announced the initiation of a phase 2 study entitled "A Phase 2 Safety and Efficacy Study of EPI-743 (Vincerinone™) in Children with Pearson Syndrome." The Investigative New Drug application (IND) was approved by the Food and Drug Administration, Office of Hematology and Oncology Products.
The trial is a subject-controlled study design lasting 12 months in which all subjects will receive EPI-743. The primary endpoint of the study is the incidence of episodes of sepsis, metabolic crisis, and hepatic failure. Secondary endpoints include transfusion avoidance and other disease-relevant endocrine and neurological outcome assessments. Given the rarity of Pearson syndrome, the study is a single arm design, and is being conducted at multiple sites worldwide.
Historically, mitochondrial disease has been described as a group of neuromuscular diseases. This description connotes the energy derangements associated with brain and muscle function. However, today our knowledge of both the molecular and genetic basis of the diseases has significantly grown. It is now established that genetic defects in either nuclear or mitochondrial derived DNA are responsible for a myriad of clinical "mitochondrial" diseases that can affect virtually every organ system. Pearson syndrome is one such example.
Pearson syndrome has an estimated prevalence of less than 1:1,000,000. It is typically diagnosed in infancy, though it can be diagnosed in neonates. Its clinical hallmarks are transfusion-dependent anemia, neutropenia, and pancreatic dysfunction. Given the notable hematologic derangements associated with the syndrome, Edison has submitted the Pearson syndrome IND to the Office of Hematology and Oncology Products. This allows Edison to utilize the division's expertise in the development of drugs for diseases with significant hematological manifestations.
"Pearson syndrome is a very rare mitochondrial disease with a devastating clinical outcome," stated Mathew Klein, MD, FACS, Chief Medical Officer, Edison Pharmaceuticals. "We are working with our clinical investigator team worldwide to accelerate enrollment in this trial and to systematically explore whether EPI-743 can offer benefit for this patient population."
The FDA has previously granted orphan status to EPI-743 for the treatment of inherited respiratory chain diseases, as well as for Friedreich's ataxia. Edison is currently conducting a number of phase 2A and 2B trials in various mitochondrial disease indications.