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Tytuł pozycji:

Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study.

Tytuł:
Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study.
Autorzy:
Querin G; Centre de Référence Maladies Neuromusculaires Paris-Est, APHP, Hôpital Pitié-Salpêtrière, Service de Neuromyologie, Paris, France.; Laboratoire D'Imagerie Biomédicale, Sorbonne Université, CNRS, INSERM, Paris, France.; Institut de Myologie, I-Motion Adultes Plateforme, Paris, France.
Lenglet T; Département de Neurophysiologie, APHP, Hôpital Pitié-Salpêtrière, Paris, France.; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.
Debs R; Département de Neurophysiologie, APHP, Hôpital Pitié-Salpêtrière, Paris, France.
Stojkovic T; Centre de Référence Maladies Neuromusculaires Paris-Est, APHP, Hôpital Pitié-Salpêtrière, Service de Neuromyologie, Paris, France.
Behin A; Centre de Référence Maladies Neuromusculaires Paris-Est, APHP, Hôpital Pitié-Salpêtrière, Service de Neuromyologie, Paris, France.
Salachas F; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.
Le Forestier N; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.; Département de Recherche en Éthique, EA 1610: Etudes Des Sciences Et Techniques, Université Paris Sud/Paris Saclay, Paris, France.
Amador MDM; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.
Bruneteau G; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.
Laforêt P; Neurology Department, Nord/Est/Ile de France Neuromuscular Center, Raymond-Poincaré Hospital, Garches, France.; INSERM U1179, END-ICAP, Versailles Saint-Quentin-en-Yvelines University, Montigny-le-Bretonneux, France.
Blancho S; Institut Pour La Recherche Sur La Moelle Epinière Et L'Encéphale (IRME), Paris, France.
Marchand-Pauvert V; Laboratoire D'Imagerie Biomédicale, Sorbonne Université, CNRS, INSERM, Paris, France.
Bede P; Laboratoire D'Imagerie Biomédicale, Sorbonne Université, CNRS, INSERM, Paris, France.; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France.; Computational Neuroimaging Group, Academic Unit of Neurology, Trinity College, Dublin, Ireland.
Hogrel JY; Institute of Myology, Neuromuscular Investigation Center, Paris, France.
Pradat PF; Laboratoire D'Imagerie Biomédicale, Sorbonne Université, CNRS, INSERM, Paris, France. .; APHP, Centre Référant SLA, Hôpital Pitié-Salpêtrière, Paris, France. .; Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute Ulster University, Altnagelvin Hospital, Derry/Londonderry, C-TRIC, UK. .; Département de Neurologie, 47 Boulevard de l'sHôpital, 75634, Paris cedex 13, France. .
Źródło:
Journal of neurology [J Neurol] 2021 May; Vol. 268 (5), pp. 1792-1802. Date of Electronic Publication: 2021 Jan 02.
Typ publikacji:
Journal Article
Język:
English
Imprint Name(s):
Original Publication: Berlin ; New York, Springer-Verlag
MeSH Terms:
Spinal Muscular Atrophies of Childhood*/diagnostic imaging
Adult ; Humans ; Longitudinal Studies ; Muscle Strength ; Muscle, Skeletal/diagnostic imaging ; Outcome Assessment, Health Care
References:
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Contributed Indexing:
Keywords: Adult SMA; Clinical trial; Longitudinal progression; MUNIX; Outcome measures
Entry Date(s):
Date Created: 20210103 Date Completed: 20210618 Latest Revision: 20210618
Update Code:
20240105
DOI:
10.1007/s00415-020-10332-5
PMID:
33388927
Czasopismo naukowe
Objective: The aim of this study was the comprehensive characterisation of longitudinal clinical, electrophysiological and neuroimaging measures in type III and IV adult spinal muscular atrophy (SMA) with a view to propose objective monitoring markers for future clinical trials.
Methods: Fourteen type III or IV SMA patients underwent standardised assessments including muscle strength testing, functional evaluation (SMAFRS and MFM), MUNIX (abductor pollicis brevis, APB; abductor digiti minimi, ADM; deltoid; tibialis anterior, TA; trapezius) and quantitative cervical spinal cord MRI to appraise segmental grey and white matter atrophy. Patients underwent a follow-up assessment with the same protocol 24 months later. Longitudinal comparisons were conducted using the Wilcoxon-test for matched data. Responsiveness was estimated using standardized response means (SRM) and a composite score was generated based on the three most significant variables.
Results: Significant functional decline was observed based on SMAFRS (p = 0.019), pinch and knee flexion strength (p = 0.030 and 0.027), MUNIX and MUSIX value in the ADM (p = 0.0006 and 0.043) and in TA muscle (p = 0.025). No significant differences were observed based on cervical MRI measures. A significant reduction was detected in the composite score (p = 0.0005, SRM = -1.52), which was the most responsive variable and required a smaller number of patients than single variables in the estimation of sample size for clinical trials.
Conclusions: Quantitative strength testing, SMAFRS and MUNIX readily capture disease progression in adult SMA patients. Composite multimodal scores increase predictive value and may reduce sample size requirements in clinical trials.

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