RECRUITINGINTERVENTIONAL

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

About This Trial

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.

Who May Be Eligible (Plain English)

DMD/BMD Subject Inclusion/Exclusion Criteria Who May Qualify: 1. Ambulatory at screening 2. Genetically confirmed diagnosis of DMD/BMD 3. Parental/guardian permission (willing to sign a consent form) 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 Who Should NOT Join This Trial: - Non-ambulatory at Screening, defined as unable to walk independently and needing assistive devices - Female patients - Parental/guardian unable to provide willing to sign a consent form Healthy Control Subject Inclusion/Exclusion Criteria Who May Qualify: 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 (willing to sign a consent form). 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 Who Should NOT Join This Trial: - Non-ambulatory at Screening, defined as unable to walk independently and needing assistive devices - Female patients - Parental/guardian unable to provide willing to sign a consent form Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

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

Treatments Being Tested

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.

Locations (1)

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States