Alex Dorenbaum, MD, Chief Medical Officer of Reneo Pharmaceuticals, gives an overview of primary mitochondrial myopathies (PMM).
As Dr. Dorenbaum explains, PMM are a group of rare metabolic disorders caused by mutations or deletions in mitochondrial or nuclear DNA. These alterations impair the ability of mitochondria to generate energy, resulting in energy deficits that are most pronounced in tissues with high energy demand such as muscle, brain, and heart. The symptoms of PMM include muscle weakness, exercise intolerance, movement disorder, deafness, blindness, and droopy eyelids. The prognosis for these disorders ranges in severity from progressive weakness to death. Usually, those with mitochondrial deficits have later onset of symptoms and less severe disease.
Currently, there is no approved treatment for PMM. However, mavodelpar, a selective peroxisome proliferator-activated receptor delta agonist, is currently in clinical development for PMM.
