Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders

Columbia University

Status: Enrolling

Conditions: Spinal Muscular Atrophy Type 3; Duchenne Muscular Dystrophy (DMD)

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT06839469

R01HD112908 (U.S. NIH Grant/Contract)

AAAU9807

Details and patient eligibility

About

The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.

Full description

Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are genetic disorders that often result in progressive weakness and impaired function. Our recent findings suggest that novel machine-learning (ML)-based abstraction models may map noisy signals from foot-worn sensors (namely, instrumented insoles developed by the project team) into accurate and clinically relevant spatiotemporal and kinetic gait parameters. These gait parameters derived from instrumented insoles may serve as functional biomarkers to detect changes in real world function. All participants will be observed and measured while wearing the instrumented insoles in the lab and in real-life environments.

Enrollment: 106 estimated patients

Sex: All

Ages: 5+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Genetic confirmation of disease (DMD, SMA) or healthy control
• Able to walk independently at least 25 meters
• Ongoing corticosteroids therapy or initiation of corticosteroid therapy in the previous 3 months for DMD
• Stable dose of FDA approved SMN up-regulator therapy or in an open-label extension phase of a study treatment for at least 6 months for SMA or gene replacement at enrollment for SMA or DMD participants.

Exclusion criteria

• Use foot orthoses or assistive devices for community ambulation or a mobility device for community navigation
• Use investigational medications intended for treatment of NMD within 30 days
• Prior to study entry had an injury or surgery that would impact gait within the previous 3 months

Trial design

106 participants in 3 patient groups

Spinal Muscular Atrophy

Description:

Ambulatory children and adults at least 5 years old by the time of enrollment with genetically confirmed SMA.

Duchenne Muscular Dystrophy

Description:

Ambulatory children and adults ages at least 5 years old by the time of enrollment with genetically confirmed Duchenne or Becker muscular dystrophy or evidence on muscle biopsy with a clinical presentation consistent with DMD/BMD.

Healthy Control

Description:

The healthy control group will be ambulatory children and adults at least 5 years of age, age- and gender-matched to the SMA and DMD groups as best as possible.