How the therapy works
BMD and DMD develop when there is a mutation in the DMD gene. This gene contains the instructions necessary for cells to make dystrophin. Dystrophin is a protein that helps protect muscle cells during contraction and relaxation.
In these diseases, the dystrophin protein is either absent (DMD) or not fully functional (BMD). This means that muscle cells get damaged at each contraction. LGMD develops as a result of one of may different genetic mutations. These mutations result in the incorrect formation of proteins that play a role in the maintenance and repair of muscle cells. All three diseases ultimately result in damage to the muscle cells and the buildup of scar tissue, causing muscle wasting and weakness.
EDG-5506 is a small molecule therapy that is intended to stabilize skeletal muscle fibers (muscles under voluntary control) and protect them from damage during contractions. Preclinical studies in mouse and dog models of muscular dystrophy showed that EDG-5506 reduced levels of creatine kinase (a molecule released into the bloodstream when muscles are damaged) after exercise, to levels similar to those in animals that were not exercised. Treatment also showed lower scar tissue formation in heart muscles, diaphragm, and abdominal muscles.
EDG-5506 in clinical trials
A Phase 1 clinical trial (NCT04585464) is investigating the safety, tolerability, and pharmacokinetics (movement in the body) of EDG-5506. The trial seeks to enroll 152 healthy participants and BMD patients, ages 19 to 55. Participants will receive either a single oral dose or multiple oral doses of EDG-5506, or a placebo. The study also will investigate the effect of taking the treatment with food or on an empty stomach.
Researchers will monitor participants for up to 30 days for adverse side effects, abnormal blood or urine test results, changes in electrocardiograms, and any other abnormal physical exam findings, including changes in vital signs. The enrolment of BMD patients will start after researchers obtain sufficient results from healthy volunteers. The study is recruiting about 150 participants in Texas. Researchers estimate completing the study in October 2021.
Last updated: Jan. 26, 2021
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