WP 2.2 - Implementing new biomarkers for fatigue evaluation: FANTASI-SMART

FantasiSMART (Fatigability Novative Tests in Amyotrophie Spinale Infantile) is a RIPH2 protocol aiming at assessing the feasibility of a muscle fatigability test in patients with SMA.
The FantasiSMART study was approved by the ethics committee on June 4, 2024.
Project objective:
Provide biomarkers of treated SMA with a special focus on fatigue evaluation
- Develop a new fatigue ergometer adapted to pediatric SMA population
- Test control children and young patients with SMA development of a new ergometer for measuring fatigue in
children with SMA
Main Investigator: Pr Léonard Féasson

Inclusion Criteria
- Genetically proven SMA
- Treatment that restores SMN protein expression for more than 6 months
- Age > 6 years
- Consent signed by patient or parent/legal guardian and consent of patient
- Beneficiary of Social Security system
Non-inclusion criteria
- Other pathology likely to interfere significantly with SMA assessment
- Other associated neurological disease
- Patients participating in interventional clinical trial
- Investigator centers:
- Center 1: CRNm CHU de Saint-Etienne
- Center 2 : Service de consultation neuromusculaire adultes de l’Hôpital de la Croix-Rousse des HCL
- Center 3: Service central de rééducation pédiatrique L’Escale, Hôpital Femme Mère Enfant, HCL
- Center 4: Institut de myologie, Hôpital de la Pitié Salpêtrière – AP-HP
- N=80 (40 adults & 40 childrens)
3 tools will be developed in the FantasiSMART study, as well as the use of questionnaires
3 levels of testing will be carried out according to patients’ motor levels
The same protocole will be adapt with different tools for children and adults
There will be different tests and forms to be completed to analyse the fatigue (QIF test, Neuromuscular function evaluation, prehension test, pouce test, FACIT-F for adults, PedsQL 4.0 for children, echelle de Borg). A fun interface has been developed by a trainee to collect data on children.