An interventional study of Descending stair walk in Duchenne Muscular Dystrophy (DMD) and Becker's Muscular Dystrophy (BMD), sponsored by Children's Hospital of Philadelphia. Recruiting at 1 site in United States. Open to male participants aged 2 Years to 10 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-04-08.
Sponsored by Children's Hospital of Philadelphia · Not applicable, Interventional, and Basic science
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.
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.
473 studies on the registry are indexed under Muscular Dystrophy, Duchenne; 107 are open to participants now.
This study's planned enrollment of 50 is above the median of 26 across 326 interventional studies indexed under Muscular Dystrophy, Duchenne.
Browse Muscular Dystrophy, Duchenne studies →Children's Hospital of Philadelphia is the lead sponsor of 480 studies on the registry; 85 are open to participants now.
Of its 28 completed or terminated interventional studies of FDA-regulated products, 22 (79%) have results posted.
Counted across the registry records on this site, refreshed daily.
DMD/BMD Subject Inclusion/Exclusion Criteria
Inclusion Criteria:
Exclusion Criteria:
Healthy Control Subject Inclusion/Exclusion Criteria
Inclusion criteria:
Exclusion criteria:
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.
Change in urinary NTFT (titin) after structured activity
Change in urinary NTFT concentration will be measured before and after clinical visits, during which subjects will complete standard of care physical therapy assessments and perform a two-flight stair descent (if able).
Time frame: Day 1, 6-12 months , 12-18 months
Urinary NTFT (titin) relative during unstructured activity in home environment
Change in urinary NTFT (titin) concentration over 1 week in response to unstructured activity at home and will be measured after each scheduled visit. This period of home NTFT monitoring will occur at the same time as activity monitoring described in outcome measure #3.
Time frame: Day 1, 6-12 months, 12- 18 months
Unstructured activity level as assessed by wearable activity device
Subjects' daily movement and activity levels will be measured continuously over 1 week at home using a pair of wearable accelerometry sensors. This will be completed after each scheduled clinical visit. This period of home activity monitoring will occur in conjunction with NTFT monitoring as described in outcome measure #2.
Time frame: Day 1, 6-12 months, 12-18 months
Change in neuromuscular performance over time, as assessed by routine North Star Ambulatory Assessment (NSAA)
North Star Ambulatory Assessment is a standardized set of 17 different activities such as standing, sitting, climbing up and down one step, getting up from the floor, walking, and balancing, which will measure the subjects' motor function while the PT assesses their performance. NSAA will be evaluated at each scheduled visit. The change over time will be evaluated.
Time frame: Day 1, 6-12 months, 12-18 months
Neuromuscular performance over time, as assessed by time to rise from floor (TTR).
The time it takes the participant to get up from the floor will be evaluated at each scheduled visit. The change in TTR over time will be evaluated.
Time frame: Day 1, 6-12 months, and 12-18 months
Neuromuscular performance over time, as assessed by 4 stair climb (4SC).
The time it takes the participant to climb 4 stairs will be evaluated at each scheduled visit. The change in 4SC over time will be evaluated.
Time frame: Day 1, 6-12 months, 12-18 months
Neuromuscular performance over time, as assessed by 10 meter walk (10MW)
The time it takes the participant to walk 10 meters will be evaluated at each scheduled visit. The change in 10MW time over time will be evaluated.
Time frame: Day 1, 6-12 months, 12-18 months
Types of activities
Subject's will record type of activity and time spent doing activities in an activity log. The amount of time spent doing activities involving walking and running will be quantified for each study group during 1 week at home following each scheduled visit.
Time frame: Day 1, 6-12 months, 12-18 months
Plan to share: No
No publications or documents are linked to this record.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Children's Hospital of Philadelphia