Evaluation of Novel Cyclophilin D Inhibitors for Mitochondrial Disease Therapy

DESCRIPTION (provided by applicant): Myopathies and other clinical disorders arising from genetic abnormalities of the mitochondrial respiratory chain collectively affect as many as 1 in 8000 individuals, representing in aggregate a significant disease burden, even though the specific underlying genetic lesions are each quite rare. Despite the need for therapeutic strategies to prevent or slow the progression of these often disabling and at times fatal genetic diseases, existing treatment options for mitochondrial disease patients are limited primarily to symptom management. Genetic and clinical heterogeneity make diagnosis, treatment, and therapeutic discovery for these diseases challenging, and disease-modifying treatments remain elusive for the majority of mitochondrial disorders. Inhibition of specific cellular pathology common to multiple mitochondrial diseases could complement approaches targeting the primary genetic defects in individual disorders, and contribute to combination strategies for redu