WP 2.1 - Natural History : PHÉNO-SMART

The PhenoSMART study: characterization of new phenotypes of spinal muscu­lar atrophy type 1, 2 or 3 after treat­ment with SMN restoring therapy received the ethics committee approval in second of February 2024.

The French national health and drug safety agency ANSM gave its its authorization on 11th of December 2023.

This is a prospective, longitudinal, multicenter, international study.

The qualification chosen for this study is RIPH 1 HPS

Objective of the study:

 Primary objective

       To characterize the course of pathology in SMA patients aged 0-15 years old treated with SRT, using standardized assessments to describe emerging phenotypes.

Secondary objective

1) To identify the best outcome measures for new therapeutic approaches in previously treated patients.

2) To identify new features of SMA after SRT that may warrant on-treatment monitoring and medical follow-up by clinicians.

3) To collect cost and quality of life data to assess the societal cost of SMA.

Exploratory objectives

 1) Identify biomarkers (clinical and automated motion measures) for fatigue assessment 

2) Identify biomarkers (biological and imaging) for muscle atrophy 

3) Identify biological biomarkers (CSF, blood) correlated with the patient’s clinical course

4) Identify biological (CSF, blood) and clinical biomarkers correlated with systemic involvement

Principal investigator: Dr Laure Le Goff 

Laure Le Goff
Laure Le Goff

Trai­ning of assessors started. The first inclusions will start second trimester of 2024.

Duration of study

• Length of inclusion period: 18 months

• Duration of participation for each patient: 24 months

• Total study duration: 42 months

Place of research:

10 centers will be involved: 8 in France (a pediatric PRM service, 6 pediatric or neuropediatric departments, a pediatric neuromuscular pediatric neuromuscular clinical trials) and 2 in Belgium.

Inclusion Criteria:

• 60 patients aged <16 years with SMA type 1,2 or 3

• Treated with SMN restoring therapy