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Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
- Source :
- ANNALS OF NEUROLOGY, r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau, instname, Digital.CSIC. Repositorio Institucional del CSIC
- Publication Year :
- 2021
-
Abstract
- The Jain COS Consortium.<br />[Objective] Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. The Jain Clinical Outcomes Study of Dysferlinopathy aims to establish the validity of the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) scale and identify factors that influence the rate of disease progression using NSAD.<br />[Methods] We collected a longitudinal series of functional assessments from 187 patients with dysferlinopathy over 3 years. Rasch analysis was used to develop the NSAD, a motor performance scale suitable for ambulant and nonambulant patients. Generalized estimating equations were used to evaluate the impact of patient factors on outcome trajectories.<br />[Results] The NSAD detected significant change in clinical progression over 1 year. The steepest functional decline occurred during the first 10 years after symptom onset, with more rapid decline noted in patients who developed symptoms at a younger age (p = 0.04). The most rapidly deteriorating group over the study was patients 3 to 8 years post symptom onset at baseline.<br />[Interpretation] The NSAD is the first validated limb girdle specific scale of motor performance, suitable for use in clinical practice and clinical trials. Longitudinal analysis showed it may be possible to identify patient factors associated with greater functional decline both across the disease course and in the short-term for clinical trial preparation. Through further work and validation in this cohort, we anticipate that a disease model incorporating functional performance will allow for more accurate prognosis for patients with dysferlinopathy. ANN NEUROL 2021;89:967–978<br />The estimated US $4 million needed to fund this study was provided by the Jain Foundation. (www.jain-foundation.org) The Jain COS consortium would like to thank the study participants and their families for their invaluable contribution. The John Walton Centre Muscular Dystrophy Research Centre is part of the MRC Centre for Neuromuscular Diseases (Grant number MR/K000608/1).
- Subjects :
- 0301 basic medicine
Adult
Male
Dysferlinopathy
medicine.medical_specialty
Adolescent
Psychometrics
Disease
Age of Onset
Aged
Aged, 80 and over
Child
Clinical Trials as Topic
Cohort Studies
Disease Progression
Female
Humans
Longitudinal Studies
Middle Aged
Muscular Dystrophies, Limb-Girdle
Treatment Outcome
Young Adult
Muscular Dystrophies
03 medical and health sciences
Limb-Girdle
0302 clinical medicine
Physical medicine and rehabilitation
80 and over
Medicine
Muscular dystrophy
Generalized estimating equation
Rasch model
business.industry
Clinical study design
medicine.disease
Clinical trial
030104 developmental biology
Neurology
Cohort
Neurology (clinical)
Function and Dysfunction of the Nervous System
business
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 15318249 and 03645134
- Volume :
- 89
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Annals of neurologyReferences
- Accession number :
- edsair.doi.dedup.....40607b7b7a206d09082c99efd6e86b27