Familial dilated cardiomyopathy

This study tests the long-term safety and effectiveness of an investigational drug called danicamtiv in adults with symptomatic genetic or familial dilated cardiomyopathy (DCM), a condition where the heart muscle weakens and enlarges. Participants who completed a prior 24-week st…

This phase 2b trial tests AVTX-801, a D-galactose supplement, in 8 adults with PGM1-CDG, a rare genetic disorder affecting sugar metabolism. Participants currently on D-galactose will receive either the study drug or a placebo to see if it reduces disease-related events like low …

This early study tests whether high-dose vitamin B3 (nicotinamide) can help preserve or improve vision in people with Leber's hereditary optic neuropathy (LHON), a rare genetic disease that causes sudden vision loss. Researchers will give 13 participants 2 grams of vitamin B3 dai…

This study follows 10 Chinese adults who have a specific gene mutation (BAG3) linked to dilated cardiomyopathy, a condition where the heart becomes enlarged and weak. Researchers will track changes in heart function, symptoms, and biomarkers over time to better understand how the…

This study is creating a registry for people with Duchenne and Becker muscular dystrophy, as well as symptomatic female carriers. The goal is to collect health data and quality-of-life information to monitor how new therapies work in real-world settings. Up to 1,500 participants …