Propionic Acidemia: Update on the Paramount Study by Moderna

Описание: Ruchira Glaser, MD, MS, Senior Vice President, Therapeutic Area Head of Rare Disease, Autoimmune & Cardiovascular at Moderna, discusses the phase 1/2 Paramount study evaluating investigational mRNA-3927 in participants with propionic acidemia (PA).

PA is a rare inherited metabolic disorder characterized by a deficiency of propionyl-CoA carboxylase. This enzyme is directly involved in the breakdown of amino acids as well as cholesterol, certain fatty acids, and other substances necessary for metabolic processes. The deficiency of this enzyme leads to accumulation of these chemicals and metabolites which harms the mitochondria. Symptoms of PA are usually apparent during the first few days of life and may include hypotonia, poor feeding, vomiting, failure to thrive, lethargy, dehydration and seizures. Without appropriate treatment, coma and death may result. Currently, there is no FDA-approved therapy for this metabolic disorder.

Fortunately, as Dr. Glaser explains, the first two cohorts of the Paramount study have been dosed with mRNA-3927 and all five patients who have completed dosing are continuing into the open-label extension study. mRNA-3927 contains two mRNAs that encode for the alpha and beta subunits of propionyl-CoA carboxylase.

According to Dr. Glaser, she is happy with the current safety and efficacy data