Urinary Titin Biomarker in DMD

NCT07332013 | Recruiting

• 2 other identifiers: 23-021450U01NS134672
• Study Type: interventional
• Target: 50
• Locations: 1 country
• Sites: 1

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)

Outcome Measures

Primary Outcomes (3)

• 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).

  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.

  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.

  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)

  Day 1, 6-12 months, 12-18 months

• Neuromuscular performance over time, as assessed by time to rise from floor (TTR).

  Day 1, 6-12 months, and 12-18 months

• Neuromuscular performance over time, as assessed by 4 stair climb (4SC).

  Day 1, 6-12 months, 12-18 months

• Neuromuscular performance over time, as assessed by 10 meter walk (10MW)

  Day 1, 6-12 months, 12-18 months

• Types of activities

  Day 1, 6-12 months, 12-18 months

Study Arms (1)

Experimental

EXPERIMENTAL

Other: Descending stair walk

Interventions

Descending stair walk OTHER

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.

Experimental

Eligibility Criteria

• Age: 2 Years - 10 Years
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may not qualify if:

• 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
• Non-ambulatory at Screening, defined as unable to walk independently and needing assistive devices
• Female patients
• Parental/guardian unable to provide informed consent
• 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
• Non-ambulatory at Screening, defined as unable to walk independently and needing assistive devices
• Female patients
• Parental/guardian unable to provide informed consent

Sponsors & Collaborators

• Children's Hospital of Philadelphia: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (1)

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Sabrina Yum, MD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

• Benjamin Kozyak, MD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Calliope O'Donnell, MS

CONTACT

267-426-7786; odonnellcs@chop.edu

Julianne Larosa, MPH

CONTACT

267-426-7875; Larosaj1@chop.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 6, 2025
• First Posted: January 12, 2026
• Study Start: March 4, 2026
• Primary Completion (Estimated): December 1, 2029
• Study Completion (Estimated): December 1, 2029
• Last Updated: April 8, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)