SMAdult - Monitoring of Movement on Spinal Muscular Atrophy (SMAdult)
Brief Summary
Spinal muscular atrophy (SMA) is a rare neuromuscular disease causing progressive muscle weakness related to degeneration of motor neurons. With the arrival of new treatments, the natural history of SMA is changing significantly, and treatments in adults have been associated with disease stabilization and a reduction in fatigue. However, functional assessment of adult patients remains difficult: their motor performance is highly fluctuating and hospital-based tests incompletely capture these daily variations.
Wearable devices, such as Syde®, now allow continuous monitoring in real life. The Syde® device, already used in Duchenne muscular dystrophy, provides digital measures describing gait and overall motor activity. However, no fully validated digital measure currently exists in adults with SMA.
The SMAdult study aims to address this gap through a precise, longitudinal, and fully decentralized follow-up of adults with SMA.
Objectives
- Primary objectives: Evaluation of the usability, reliability, and optimal use of a wearable device (Syde®) to monitor motor evolution in adults with SMA.
- Secondary objectives: To study the clinical validity of digital biomarkers by correlating them with functional scales (HFMSE, RULM). To determine the ability of digital measures to discriminate patients according to SMN2 copy number, phenotype, or treatments received. To follow the longitudinal evolution of Syde® measures in order to identify decline, stabilization, or improvement. To analyze subjective perception of progression through validated questionnaires and interviews.
Methodology Study type Academic, monocentric, prospective, fully decentralized study. Total duration: 36 months (24 months of inclusion, and between 12 and 30 months of follow-up).
Target population 60 adults aged over 15 years with genetically confirmed SMA. With a minimum of 20 ambulatory patients and 20 non-ambulatory patients.
On stable treatment for more than 1 year.
Procedure:
- Remote inclusion, with electronic consent via electronic software such as DocuSign.
- Follow-up every 6 months by questionnaire and videoconference.
- Use of a connected home device: Syde® (gait sensor).
- No hospital visits required.
- Collection of motor data, routine clinical information, validated questionnaires on swallowing, CGI questionnaire improvement and comparison.
Benefits and risks
- Direct benefits: limited but potential (enhanced monitoring).
- Collective benefits: improvement of monitoring tools and outcome measures in adult SMA patients.
- Risks: very low; use of non-invasive sensors with no known side effects.
Ethical aspects
- Compliance with GCP and GDPR.
- Oral and electronic informed consent.
- Pseudonymized data, analyzed by approved partners (SYSNAV).
- No compensation planned; no travel required.
- Insurance provided by the sponsor
Key Information
Inclusion Criteria:
- Patient with genetically confirmed spinal muscular atrophy and available SMN2 copy number or if unavailable, they will be offered the option to send a DBS (dried blood spot) for SMN2 copy evaluation.
- On stable Disease modifying treatment for at least one year.
- The participant must be willing and able to provide written informed consent for study participation.
- Aged 15 years or older.
Exclusion Criteria:
- Any acute or chronic condition that, in the investigator's opinion, significantly interferes with assessments and/or motor development.
- Participation in a therapeutic trial with unapproved treatment.
- absence of internet connection.