Gait and Bone Health in SMA

Jacqueline Montes

Status: Enrolling

Conditions: Spinal Muscular Atrophy Type 3; Ambulatory Spinal Muscular Atrophy

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT07400198

AAAV3667

Details and patient eligibility

About

The objective of this study is to understand how spatiotemporal and kinetic gait parameters are associated with bone health in pwSMA who are receiving DMT. We hypothesize that gait parameters are associated with BMD and can determine fracture risk in pwSMA. This is an observational study that involves one in-clinic visit (approximately 3 hours) with remote follow-up visits (approximately 15 minutes) every 3 months for 1 year to collect fracture and medical history. Each of the assessments included in this study are non-interventional and are not intended as a treatment nor are they at the level of standard of care.

Full description

Addressing bone health is a high priority and remains a concern for the SMA community despite the availability of DMTs. Fractures often have devastating, irrecoverable impacts on function, especially in ambulatory pwSMA. While the most recent standards of care for SMA recommend annual screening, supportive treatments are not recommended until there has been a fracture, a reactive approach which may not be enough to mitigate LBM. Implementing novel, wearable technology and machine learning (ML) models to identify fracture risk will lead to a proactive approach to manage bone health and attenuate the negative sequalae of fractures. This is an observational cross-sectional study of ambulatory children and adults with SMA. The aims of this study are to (1) Identify gait-related digital biomarkers of bone health in ambulatory pwSMA, (2) Determine the ability of digital biomarkers to differentiate between pwSMA with and without a history of fractures, and (3) Investigate the ability of risk profiles derived from the digital biomarkers to predict prospective fractures over one year.

Enrollment: 22 estimated patients

Sex: All

Ages: 8 to 50 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Confirmed diagnosis of 5qSMA
• Between 8 and 50 years of age
• Able to walk 10 meters without support or an assistive device
• All participants who meet the inclusion criteria regardless of treatment status will be included, including those on adjuvant therapies, whether investigational or approved

Exclusion criteria

• Injury or surgery within previous 3 months that would impact ability to perform in-clinic gait assessments
• Unwilling or unable to comply with all study procedures
• Age less than 8 or over 50 years

Trial design

22 participants in 1 patient group

Spinal Muscular Atrophy

Description:

Ambulatory children and adults at least 8 years old by the time of enrollment with genetically confirmed SMA.