Recruiting

Biomarkers for DMD

Sponsor:

Children's Hospital of Philadelphia

Code:

NCT07332013

Conditions

Duchenne Muscular Dystrophy (DMD)

Becker's Muscular Dystrophy (BMD)

Eligibility Criteria

Sex: Male

Age: 2 - 10

Healthy Volunteers: Accepted

Interventions

Descending stair walk

Study Details

Brief 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.

Conditions

Duchenne Muscular Dystrophy (DMD)

Becker's Muscular Dystrophy (BMD)

Study ID

NCT07332013

Start date

Mar 4, 2026

Status verified date

Apr, 2026

Completion date

Dec, 2029

Anticipated

Primary completion date

Dec, 2029

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: Male

Age: 2 - 10

Healthy Volunteers: Accepted

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

Study Design

Enrollment

50 participants

Anticipated

Intervention Model

Single group

Primary purpose

Basic Science

Interventions and Outcome Measures

Arms

experimental: Experimental

Interventions

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.

Primary outcome measure

  • Change in urinary NTFT (titin) after structured activity [ Time Frame: Day 1, 6-12 months , 12-18 months ]
  • Urinary NTFT (titin) relative during unstructured activity in home environment [ Time Frame: Day 1, 6-12 months, 12- 18 months ]
  • Unstructured activity level as assessed by wearable activity device [ Time Frame: Day 1, 6-12 months, 12-18 months ]

Central Contacts and Locations

Central contacts

Calliope O'Donnell, MS

267-426-7786odonnellcs@chop.edu

Julianne Larosa, MPH

267-426-7875Larosaj1@chop.edu

Locations

Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Calliope O'Donnell, MS

267-426-7786odonnellcs@chop.edu

More Information

Sponsor

Children's Hospital of Philadelphia

Last update posted

Apr 8, 2026

Last verified

Apr, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Children's Hospital of Philadelphia on 2026-04-08.