Home Monitoring of Adult Patients With SMA: a Pilot Multicenter Validation Study

Summary

There is no complete cure for SMA yet. However, the discovery of the genetic cause of SMA has led to the development of several treatment options that affect the genes involved in SMA - a gene replacement therapy called Zolgensma, and two drugs, called Nusinersen (Spinraza) and Risdiplam (Evyrsdi). In this context, the evaluation of efficacy and the long term follow-up of patients treated with these innovative treatments in clinical routine is one of the critical points. These evaluations are carried out in a medical context (clinical sites or research unit) using validated measurement tools and outcome measures. Carrying out these evaluations in a controlled environment can be considered from certain aspects as an advantage (reproducibility of measures, neutral environment, etc.), but also raises a certain number of questions regarding the impact on patients, the financial cost, or the relevance of the data obtained in an unnatural environment (stress, fatigue, patient motivation…). Also the regulatory authorities ask for longitudinal data for deciding to reimburse these expensive treatments. As such, the hospital cannot digest all these evaluations due to a lack of resources.

Conditions

• Muscular Atrophy, Spinal, Type II
• Muscular Atrophy, Spinal, Type III

Interventions

OTHER

Strength force measurment

The grip and pinch strength of the patient will be evaluate using dedicated devices (MyoGrip and MyoPinch)

OTHER

Time tests

Lower and upper limb capacities of the patients will be measured during timed tests

OTHER

Motor scales

Patient's motor functional abilities will be evaluated using specific motor scales (MFM32, RULM)

OTHER

Questionnaires

Patients and caregivers quality of life will be measured with different questionnaires (SMA-FRS, QOL-gNMD, SMAIS, PREM)

DEVICE

Accelerometry

Patients physical activity will be measured at home using accelerometer sensors

OTHER

MNR

Sub-group of patients will perform an NMR imaging to evaluate the intramuscular fatty infiltration in thighs and muscle volume in thighs

OTHER

Bio-impedance analysis

The patients' muscular and fatty volume will be evaluated using BIA technic (compared to MNR)

Sponsors & Collaborators

• Roche Pharma AG

  collaborator INDUSTRY

• Institut de Myologie, France

  lead OTHER

Study Design

Allocation

RANDOMIZED

Purpose

OTHER

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2023-12-15

Primary Completion

2024-01-31

Completion

2024-01-31

Countries

• France

Study Locations