Duchenne Muscular Dystrophy (DMD)NCT07332013
Urinary Titin Biomarker in DMD
A study testing Descending stair walk in people with Duchenne Muscular Dystrophy (DMD) and Becker's Muscular Dystrophy (BMD), run by Children's Hospital of Philadelphia at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 10 years, men onlyHealthy volunteers can take part
- Conditions the study is for
- Duchenne Muscular Dystrophy (DMD), Becker's Muscular Dystrophy (BMD)
- What is being tested?
- Descending stair walk
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 4 Mar 2026to Dec 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 10 years
- Men only
- Healthy volunteers accepted
- Child
Who may be able to join
- Ambulatory at screening
- Genetically confirmed diagnosis of DMD/BMD
- 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
- Access to electricity and a freezer in the home, in order to utilize the provided device and store collected samples
- Healthy children without DMD, BMD, or other significant chronic medical disease
- Ambulatory at Screening, defined as able to walk independently without assistive devices
- 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.
- Access to electricity and a freezer in the home, in order to utilize the provided device and store collected samples
Who cannot join
- 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
- Non-ambulatory at Screening, defined as unable to walk independently and needing assistive devices
- Female patients
- Parental/guardian unable to provide informed consent
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Calliope O'Donnell, MS, 267-426-7786, odonnellcs@chop.edu
About this study
Official title: Non-invasive Evaluation of Urinary Titin as an IND-enabling Biomarker for Use in Duchenne Muscular Dystrophy (DMD) Clinical Trials
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.
Read the 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.
- Being tested
- Descending stair walk
- Medical subject headings
- Muscular Dystrophy, Duchenne
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Descending stair walkOther
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.
| Study group | Role | What they receive |
|---|---|---|
| Experimental | Experimental | Not described Receives: Other: Descending stair walk |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 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.
Measured: 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.
Measured: Day 1, 6-12 months, 12-18 months
Secondary outcomes (5)
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: Day 1, 6-12 months, 12-18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jan 2026
- Study start4 Mar 2026
- Primary completionDec 2029 (estimated)
- Study completionDec 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Duchenne Muscular Dystrophy (DMD)Studies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Responsible party
- Sponsor
- Investigators
- Sabrina Yum, MD, Principal investigator, Children's Hospital of PhiladelphiaBenjamin Kozyak, MD, Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07332013
- Sponsor's protocol ID
- 23-021450
- Other IDs
- U01NS134672
- Status last verified
- Apr 2026
- First submitted
- 6 Nov 2025
- Last updated
- 8 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Non-invasive Evaluation of Urinary Titin as an IND-enabling Biomarker for Use in Duchenne Muscular Dystrophy (DMD) Clinical Trials
- ClinicalTrials.gov ID
- NCT07332013
- Acronym / sponsor ID
- 23-021450
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Children's Hospital of PhiladelphiaUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- 4 Mar 2026 (actual)
- Primary completion
- Dec 2029 (estimated)
- Study completion
- Dec 2029 (estimated)
- First posted
- 12 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Experimental | Experimental | Other: Descending stair walk |
Who may qualify
- Ages
- 2 to 10 years
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (8 listed)
- Ambulatory at screening
- Genetically confirmed diagnosis of DMD/BMD
- 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
- Access to electricity and a freezer in the home, in order to utilize the provided device and store collected samples
- Healthy children without DMD, BMD, or other significant chronic medical disease
Key exclusion criteria (7 listed)
- 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
- Non-ambulatory at Screening, defined as unable to walk independently and needing assistive devices
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Descending stair walkSubjects 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. | Other | Experimental |
Primary outcome
Change in urinary NTFT (titin) after structured activity
Time frame: Day 1, 6-12 months , 12-18 months
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).
Urinary NTFT (titin) relative during unstructured activity in home environment
Time frame: Day 1, 6-12 months, 12- 18 months
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.
Unstructured activity level as assessed by wearable activity device
Time frame: Day 1, 6-12 months, 12-18 months
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.
5 secondary outcomes
Change in neuromuscular performance over time, as assessed by routine North Star Ambulatory Assessment (NSAA)
Time frame: Day 1, 6-12 months, 12-18 months
Neuromuscular performance over time, as assessed by time to rise from floor (TTR).
Time frame: Day 1, 6-12 months, and 12-18 months
Neuromuscular performance over time, as assessed by 4 stair climb (4SC).
Time frame: Day 1, 6-12 months, 12-18 months
Neuromuscular performance over time, as assessed by 10 meter walk (10MW)
Time frame: Day 1, 6-12 months, 12-18 months
Types of activities
Time frame: Day 1, 6-12 months, 12-18 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Apr 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Sabrina Yum, MD principal investigator
Children's Hospital of Philadelphia
Benjamin Kozyak, MD principal investigator
Children's Hospital of Philadelphia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Descending stair walk in people with Duchenne Muscular Dystrophy (DMD) and Becker's Muscular Dystrophy (BMD), run by Children's Hospital of Philadelphia at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 8 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Calliope O'Donnell, MS (267-426-7786, odonnellcs@chop.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in urinary NTFT (titin) after structured activity (time frame: Day 1, 6-12 months , 12-18 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Apr 2026.