Urinary Titin Biomarker in DMD
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexMale
Age2-10
SponsorChildren's Hospital of Philadelphia
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
None
Disqualifiers
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
Trial design
Design model
Single group
Treatments tested in this trial
Descending stair walk
Other interventionSubjects 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.
Treatment groups
50 Participants
are divided into 1 treatment groupGroup A: ExperimentalExperimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
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 months2
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 months3
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 monthsSecondary outcomes
1
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 months2
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 months3
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 months4
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 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Children's Hospital of Philadelphia
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
Source ClinicalTrials.gov