Urine titin test for Duchenne and Becker muscular dystrophy
Non-invasive Evaluation of Urinary Titin as an IND-enabling Biomarker for Use in Duchenne Muscular Dystrophy (DMD) Clinical Trials
We will test whether a urine test that measures a titin fragment can track muscle injury in people with Duchenne or Becker muscular dystrophy and in healthy volunteers.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 50 (estimated) |
| Ages | 2 Years to 10 Years |
| Sex | Male |
| Sponsor | Children's Hospital of Philadelphia Academic / other |
| Locations | 1 site (Philadelphia, Pennsylvania) |
| Trial ID | NCT07332013 on ClinicalTrials.gov |
What this trial studies
The study measures the urinary N-terminal fragment of titin (NTFT) before and after a controlled activity (descending two flights of stairs) and during seven days of home monitoring to link biomarker levels to activity. Participants complete standard neuromuscular tests (North Star Ambulatory Assessment and timed function tests) and wear an activity monitor during clinic visits and at home. Urine is collected pre- and post-exercise at clinic visits and three times daily during the home monitoring period, with optional exploratory blood sampling if a clinical blood draw occurs. Investigators will correlate urinary NTFT with activity intensity and clinical severity to determine whether NTFT is a sensitive, noninvasive marker of systemic muscle injury.
Who should consider this trial
Good fit: Ideal candidates are ambulatory males with genetically confirmed Duchenne or Becker muscular dystrophy who can attend clinic visits, perform the stair-walk test, and have access to electricity and a freezer at home, with parental consent for minors.
Not a fit: Non-ambulatory patients, females, people without genetic confirmation, or those unable to perform the stair-walk or store home samples (no electricity/freezer) are unlikely to receive benefit from this protocol.
Why it matters
Potential benefit: If successful, this could provide a sensitive, noninvasive urine biomarker to monitor muscle injury and treatment response, enabling smaller and faster DMD/BMD clinical trials and improved patient monitoring.
How similar studies have performed: Prior research has linked urinary titin fragments to muscle damage in other settings, but using urinary NTFT as a standardized biomarker for DMD/BMD remains exploratory and not yet established.
Eligibility criteria
Show full inclusion / exclusion criteria
DMD/BMD Subject Inclusion/Exclusion Criteria Inclusion Criteria: 1. Ambulatory at screening 2. Genetically confirmed diagnosis of DMD/BMD 3. Parental/guardian permission (informed consent) for children. Child assent will also be obtained from patients ages 7 years old and older and deemed by the investigator to be neurodevelopmentally appropriate 4. Access to electricity and a freezer in the home, in order to utilize the provided device and store collected samples Exclusion Criteria: * Non-ambulatory at Screening, defined as unable to walk independently and needing assistive devices * Female patients * Parental/guardian unable to provide informed consent Healthy Control Subject Inclusion/Exclusion Criteria Inclusion criteria: 1. Healthy children without DMD, BMD, or other significant chronic medical disease 2. Ambulatory at Screening, defined as able to walk independently without assistive devices 3. Parental/guardian permission (informed consent). Child assent will also be obtained from patients aged 7 years and older and deemed by the investigator to be neurodevelopmentally appropriate. 4. Access to electricity and a freezer in the home, in order to utilize the provided device and store collected samples Exclusion criteria: * Non-ambulatory at Screening, defined as unable to walk independently and needing assistive devices * Female patients * Parental/guardian unable to provide informed consent
Where this trial is running
Philadelphia, Pennsylvania
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)
Study contacts
- Principal investigator: Sabrina Yum, MD — Children's Hospital of Philadelphia
- Study coordinator: Calliope O'Donnell, MS
- Email: odonnellcs@chop.edu
- Phone: 267-426-7786
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.