Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol.
Clinical tool
Outcome measures
Spinal muscular atrophy
Validation
Journal
Neurology and therapy
ISSN: 2193-8253
Titre abrégé: Neurol Ther
Pays: New Zealand
ID NLM: 101637818
Informations de publication
Date de publication:
05 Jan 2024
05 Jan 2024
Historique:
received:
23
10
2023
accepted:
22
11
2023
medline:
5
1
2024
pubmed:
5
1
2024
entrez:
5
1
2024
Statut:
aheadofprint
Résumé
The objective of this study is to develop a clinical tool for the evaluation and follow-up of adolescent and adult patients with 5q spinal muscular atrophy (SMA) and to design its validation. This prospective, non-interventional study will be carried out at five centres in Spain and will include patients aged 16 years or older with a confirmed diagnosis of 5q SMA (biallelic mutation of the survival motor neuron 1 [SMN1] gene). A panel of experts made up of neurologists, physiatrists and Spanish patients' association (FundAME), participated in the design of the clinical tool. Physicians will administer the tool at three time points (baseline, 12 months and 24 months). Additionally, data from other questionnaires and scales will be collected. Once recruitment is achieved, an interim statistical analysis will be performed to assess its psychometric properties by applying Rasch analysis and classical statistical tests. The tool will consist of up to 53 items to assess functional status from a clinical perspective in seven key dimensions (bulbar, respiratory, axial, lower, upper, fatigability and other symptoms), which will be collected together with objective clinical measures (body mass index, forced vital capacity, pinch strength and 6-minute walk test). The validation of this tool will facilitate the clinical evaluation of adult and adolescent patients with SMA and the quantification of their response to new treatments in both clinical practice and research.
Identifiants
pubmed: 38180726
doi: 10.1007/s40120-023-00571-9
pii: 10.1007/s40120-023-00571-9
doi:
Types de publication
Journal Article
Langues
eng
Informations de copyright
© 2024. The Author(s).
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