Urinary Titin Biomarker in DMD

A universal challenge in clinical investigation of novel therapeutics is the need for quantitative, objective biomarkers that directly address the mechanisms of disease and provide information relevant to clinically meaningful functional improvement. This has been a particular challenge in rare and slowly progressive diseases such as Duchenne Muscular Dystrophy (DMD). The investigators hypothesize that urinary N-terminal fragment of titin (NTFT) corresponding to activity level/intensity will define a high-precision, non-invasive biomarker of systemic muscle injury to enable serial measurements of efficacy and safety in the clinical investigation of gene therapy for DMD and other myopathies. This should provide a valuable exploratory, secondary and eventually primary outcome measure of therapeutic efficacy to minimize the enrollment size in informative early phase and pivotal clinical trials.

NCT Number	NCT07332013
Lead Sponsor	Children's Hospital of Philadelphia Collaborators: National Institute of Neurological Disorders and Stroke (NINDS)
Conditions	Duchenne Muscular Dystrophy (DMD), Becker's Muscular Dystrophy (BMD)
Enrollment	50 participants
Start Date	2026-03-04
Primary Completion	2029-12 (estimated)
Study Completion	2029-12 (estimated)
Updated on ClinicalTrials.gov	2026-04-08