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. 2023 Jan;44(1):329-337.
doi: 10.1007/s10072-022-06403-2. Epub 2022 Sep 29.

Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen

Laure Le Goff  1 , Andreea Seferian  2 , Aurelie Phelep  2 , Pascal Rippert  3 , Marie-Laure Mathieu  4 , Claude Cances  5 , Capucine de Lattre  6 , Julien Durigneux  7 , Gaelle Gousse  8 , Dominique Vincent-Genod  4 , Shams Ribault  4 , Marta Gomez Garcia de la Banda  9 , Susana Quijano-Roy  9 , Catherine Sarret  10 , Laurent Servais  11   12 , Carole Vuillerot  4   13
Affiliations

Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen

Laure Le Goff et al. Neurol Sci. 2023 Jan.

Erratum in

Abstract

Objective: To evaluate sensitivity to change and discriminant validity of the 20-item Motor Function Measure (MFM-20) in 2-7-year-old patients with spinal muscular atrophy types 1 (SMA1) or 2 (SMA2) treated with nusinersen.

Methods: Children aged 2 to 7 years old with SMA1 or SMA2 treated with nusinersen were assessed at least three times using the MFM-20 over an average follow-up time of 17 months. Evolution of 4-month-standardized MFM-20 scores was calculated for each MFM-20 domain (D1 standing and transfers, D2 axial and proximal, D3 distal) and for the total score (TS).

Results: Included in the study were 22 SMA1 subjects and 19 SMA2 subjects. Baseline MFM scores were significantly lower in patients with SMA1 than SMA2 (TS 29.5% vs. 48.3%, D1 4.5% vs. 10.6%, D2 43.6% vs. 72.6%, D3 51.2% vs. 75.0%). When considering the mean change during nusinersen treatment, standardized over a 4-month period, TS was improved for both SMA1 (+ 4.1%, SRM 1.5) and SMA2 (+ 2.8%, SRM 0.89) patients. For SMA1 patients, considerable changes were observed in D2 (+ 6.2%, SRM 0.89) and D3 (+ 6.0%, SRM 0.72), whereas the change in D1 was small (+ 0.5%, SRM 0.44). In SMA2 2 subjects, D3 was improved to a larger extent (+ 4.2%, SRM 0.53) than D1 (+ 1.8% SRM 0.63) or D2 (+ 3.2%, SRM 0.69).

Conclusion: Our results validate use of MFM-20 to monitor function of young SMA1 and SMA2 subjects treated with nusinersen. Significant motor function improvements following treatment were observed in both SMA1 and SMA2 patients.

Keywords: Disability evaluation; MFM; Motor Function Measure; Outcome assessment; Responsiveness; Spinal muscular atrophy.

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References

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