NCT07332013

Urinary Titin Biomarker in DMD

Non-invasive Evaluation of Urinary Titin as an IND-enabling Biomarker for Use in Duchenne Muscular Dystrophy (DMD) Clinical Trials

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 50 (estimated)
• Sponsor: Children's Hospital of Philadelphia · Academic / Other
• Sex: Male
• Age: 2 Years – 10 Years
• Healthy volunteers: Accepted

Summary

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.

Detailed description

The investigators are recruiting ambulatory individuals with Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD), and healthy volunteers. At 3 regular clinical visits, participants will perform a descending stair walk down 2 flights of stairs. Urine will be collected before and after to measure how urinary N-terminal fragment of titin (NTFT) levels are impacted by the activity. Participants will also perform a standard battery of neuromuscular tests, including North Star Ambulatory Assessment and Timed Function Tests. These will be performed as part of the regular clinic visit. Participants will wear an activity monitor during all tests. After both the first and second visits, participants will be sent home with an activity monitor to measure the participants activity over the course of 7 days. The participant's urine will be collected and frozen 3 times a day (morning, afternoon, and evening) during this period. The investigators will correlate physical activity intensity with the urinary NTFT (titin) levels and the severity of the disease (which will be based on the results of clinical neuromuscular tests). If there is a clinically-indicated blood draw, participants will have the option to allow collection of an additional sample for exploratory analysis of additional biomarkers.

Conditions

• Duchenne Muscular Dystrophy (DMD)
• Becker's Muscular Dystrophy (BMD)

Interventions

Type	Name	Description
OTHER	Descending stair walk	Subjects will participate in a brief on-site, descending stair walk. Subjects will walk down stairs, up to a maximum 2 floors, under the supervision of a physical therapist or study team member.

Timeline

• Start date: 2026-03-04
• Primary completion: 2029-12-01
• Completion: 2029-12-01
• First posted: 2026-01-12
• Last updated: 2026-04-08

Locations

1 site across 1 country: United States