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

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A Correction to this article was published on 23 November 2022

This article has been updated

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.

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Change history

Abbreviations

CHOP-INTEND:

Children’s Hospital of Philadelphia infant test of neuromuscular disorder

D1:

Motor function measure D1 sub score

D2:

Motor function measure D2 sub score

D3:

Motor function measure D3 sub score

HFMS:

Hammersmith functional motor scale

HFMSE:

Hammersmith functional motor scale Expanded

HINE:

Hammersmith infant neurological examination

MFM-20:

20-Item Motor Function Measure

MFM-32:

32-Item Motor Function Measure

SMA:

Spinal muscular atrophy

SMN:

Survival motoneuron

SRM:

Standardized response mean

TS:

MFM total score

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Acknowledgements

Financial support was received from Biogen for this study.

Author information

Authors and Affiliations

  1. Service de Médecine Physique Et Réadaptation Pédiatrique, Hôpital Femme Mère Enfant, Bron cedex, 69677, Hospices Civils de Lyon, France

    Laure Le Goff, Marie-Laure Mathieu, Dominique Vincent-Genod, Shams Ribault & Carole Vuillerot

  2. Institut I-MOTION, Hôpital Armand Trousseau, Paris cedex 12, 75571, Paris, France

    Andreea Seferian & Aurelie Phelep

  3. Service Recherche Et Epidémiologie Cliniques, Pôle Santé Publique, Bron cedex, 69677, Hospices Civils de Lyon, France

    Pascal Rippert

  4. Neuropaediatric Department, AOC (Atlantic-Oceania-Caribbean) Reference Centre for Neuromuscular Disorders, Toulouse University Hospital, Toulouse, France

    Claude Cances

  5. APF ESEAN, 44200, Nantes, France

    Capucine de Lattre

  6. CHU Angers, Service de neuropédiatrie et neurochirurgie de l’enfant, 49933, Angers, France

    Julien Durigneux

  7. CHU Saint-Etienne, Service de pédiatrie, 42270, Saint-Priest-en-Jarez, France

    Gaelle Gousse

  8. Service de Neurologie Et Réanimation Pédiatriques, APHP Paris Saclay, Hôpital Raymond Poincaré, 92380, Garches, France

    Marta Gomez Garcia de la Banda  & Susana Quijano-Roy

  9. CHU Estaing, Pôle pédiatrie, Service de génétique, Clermont-Ferrand Cedex 1, 69003, Clermont-Ferrand, France

    Catherine Sarret

  10. MDUK Oxford Neuromuscular Center, Oxford, UK

    Laurent Servais

  11. Centre de Référence Neuromusculaire, CHR de La Citadelle, Liège, Belgium

    Laurent Servais

  12. Institut Neuromyogène, UMR 5310-INSERM, CNRS, Université de Lyon, Université Lyon 1, 69100, Villeurbanne, France

    Carole Vuillerot

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  1. Laure Le Goff
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Corresponding author

Correspondence to Laure Le Goff.

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Ethical approval

The study was approved by the Ethics Committee of the Hospices Civils de Lyon.

Conflict of interest

LS has served as a consultant or advisory board member for Novartis, Novartis Gene Therapies, Cytokinetics, Scholar Rock, Biogen, and Roche. CC has received advisory fees from Novartis Gene Therapies, Roche, and Pfizer and is a site principal investigator for Biogen and Roche clinical trials. LLG has received nonfinancial support from Biogen, Allergan, and Ipsen and consultancy fees from Roche and Novartis Gene Therapies. CV has received grants and advisory fees from Biogen and advisory fees from Roche and Novartis Gene Therapies. SQR is a site principal investigator for clinical trials of Biogen, Novartis Gene Therapies, and Roche has served on advisory boards for Biogen, Novartis Gene Therapies, and Roche, and has received travel and speaker honoraria from Biogen, Novartis and Roche. CS has received advisory fees from Biogen and nonfinancial support from Biogen, Roche and Novartis Gene Therapies. GG and MLM have received nonfinancial support from Biogen. CDL has served as consultant for Biogen and Roche. MGGB has served as consultation for Biogen, Novartis Gene Therapies, and Roche. AP, PR, DVG, SR, JD, and AS declare no competing interests.

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The original online version of this article was revised: The above article was published with inverted author names. Family names was captured first instead of the given names that leads to incorrect citations online. This is now updated here.

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Le Goff, L., Seferian, A., Phelep, A. et al. Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen. Neurol Sci 44, 329–337 (2023). https://doi.org/10.1007/s10072-022-06403-2

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