A new clinical trial aiming to compare the results of physical evaluations in hospital and home settings in patients with spinal muscular atrophy (SMA) receiving genetic therapy is currently in the recruiting phase.

Therapeutic strategies focusing on the increase of SMA protein production through genetic replacement and premRNA splicing in SMN2 modification with drugs such as nusinersen and risdiplam have shown promising results in controlled contexts, the researchers noted.

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However, there are concerns regarding the potential environmental bias present in these studies, and there currently needs to be a consensus regarding the monitoring of disease progression in non-controlled settings, the investigators noted. Furthermore, the evaluation of patients in controlled settings significantly raises the costs associated with patient care, they added.

To create a modern approach fitting with the real-life conditions of patients with SMA, the authors designed a clinical trial focusing on in-home evaluation of patients with SMA.

The study will evaluate factors such as functional motor abilities, pinch strength, physical activities, upper and lower limb capacity, and quality of life of the included patients using dedicated devices, motor scales, accelerometer sensors, as well as timed tests. Additionally, a subgroup of patients will undergo nuclear magnetic resonance imaging to assess the degree of muscular fat infiltration.

The primary endpoint of the study is to compare the results between physical hospital evaluation and in-home physical evaluation. Secondary outcome measures include the assessment of barriers to the home evaluation of patients with SMA and the correlation between ambulatory and hospital results of tests such as MyoGrip measurement, 30STS tests, and muscle volume measurement methods.

The study will include patients with a confirmed diagnosis of either SMA type 1 or SMA type 2 older than 18 years of age that are able to comply with the protocol and are beneficiaries of some form of social security.

Exclusion criteria included pregnancy and lactation, patients under guardianship, patients with claustrophobia, and those unable to carry out home assessments.

The study is set to start in May 2022, and the estimated completion date is March 2023.


Home monitoring of adult patients with SMA: a pilot multicenter validation study (SMA-AtHome). ClinicalTrials.gov. Updated May 3, 2023. Retrieved May 7, 2023