Edison Pharmaceuticals has started a Phase II trial designed to evaluate the safety and efficacy of EPI-743 (Vincerinone) in children with Pearson syndrome, an ultra-rare, fatal mitochondrial disease characterised by sideroblastic anemia, pancytopenia and pancreatic dysfunction.
A member of the para, EPI – 743 benzoquinone class of drugs, is an orally bioavailable small molecule being developed for treatment of children and adults with inherited mitochondrial diseases.
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The single arm design of the subject-controlled trial is being conducted at multiple sites worldwide, lasting 12 months and subjects will be given EPI-743.
Its primary endpoint is the incidence of episodes of sepsis, metabolic crisis, and hepatic failure, while secondary endpoints include transfusion avoidance and other disease-relevant endocrine and neurological outcome assessments.
The investigative new drug (IND) application was approved by the US Food and Drug Administration, Office of Hematology and Oncology Products.
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Edison Pharmaceuticals chief medical officer Mathew Klein said Pearson syndrome is a very rare mitochondrial disease with a devastating clinical outcome.
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By GlobalData"We are working with our clinical investigator team worldwide to accelerate enrolment in this trial and to systematically explore whether EPI-743 can offer benefit for this patient population," Klein said.
Pearson syndrome has an estimated prevalence of less than 1:1,000,000 and it is typically diagnosed in infancy, though it can be diagnosed in neonates.
The disease results from a mitochondrial deletion, spanning a range of mitochondrial genes.
There is no treatment for Pearson syndrome and most patients die in infancy or early childhood secondary to metabolic disorders or infections.
Edison Pharmaceuticals said that a subset of patients survive past age three and develop a neurological syndrome- resembling Kearn-Sayre syndrome- characterised by ophthalmologic and neuromuscular impairments.
Separately, the company has received fast-track status from the US Food and Drug Administration (FDA) for EPI-743 to treat patients with Friedreich’s ataxia.
The FDA previously granted orphan status to EPI-743 for treatment of inherited respiratory chain diseases, as well as for Friedreich’s ataxia.
The company is currently conducting a number of Phase IIa and IIb trials in various mitochondrial disease indications.
Image: Pearson syndrome is a mitochondrial disease characterised by sideroblastic anemia and exocrine pancreas dysfunction. Photo: courtesy of Nephron.
