Matt Trudeau, head of ITF Therapeutics, discusses givinostat, an investigational therapy for Duchenne muscular dystrophy (DMD).

 

 

DMD is a rare neuromuscular disease caused by genetic variants in the DMD gene. The disease primarily affects the muscles, leading to progressive muscle wasting. While DMD primarily occurs in males, rare cases have been observed in females as well. Symptoms include:

  • Progressive weakness and atrophy of skeletal and heart muscle
  • Delayed ability to sit, stand, or walk
  • Difficulties learning to speak

Diagnosis of DMD is based on the symptoms, clinical exam, and the result of a biopsy to remove a small piece of muscle for examination under a microscope. The result of genetic testing may also help confirm the diagnosis.

The EPIDYS phase 3 clinical trial was a randomized, double-blind, placebo-controlled study evaluating the efficacy and safety of givinostat in patients with DMD. Givinostat is an HDAC inhibitor that impacts muscle repair mechanisms, slowing down muscle loss. 179 patients ages six and up were enrolled in the study. EPIDYS met its primary endpoint with a statistically significant difference in the degradation of muscle function as measured by the timed four-step test. Secondary endpoints, including evaluation of fat infiltration by magnetic resonance imaging and muscle function and strength tests were consistent with the primary endpoint.

The Prescription Drug User Fee Act (PDUFA) date for givinostat is March 21, 2024.

For more information on Duchenne muscular dystrophy and other rare musculoskeletal disorders, visit https://checkrare.com/diseases/musculoskeletal-diseases/