Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life

L Padua; C Pazzaglia; D Pareyson; A Schenone; A Aiello; G M Fabrizi; T Cavallaro; L Santoro; F Manganelli; F Gemignani; F Vitetta; A Quattrone; A Mazzeo; M Russo; G Vita; CMT-TRIAAL Group

doi:10.1111/ene.13033

Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life

Eur J Neurol. 2016 Aug;23(8):1343-50. doi: 10.1111/ene.13033. Epub 2016 May 10.

Authors

L Padua^{1

2}, C Pazzaglia¹, D Pareyson³, A Schenone⁴, A Aiello⁴, G M Fabrizi⁵, T Cavallaro⁶, L Santoro⁷, F Manganelli⁷, F Gemignani⁸, F Vitetta⁸, A Quattrone⁹, A Mazzeo¹⁰, M Russo¹¹, G Vita^{10

11}; CMT-TRIAAL Group

Collaborators

CMT-TRIAAL Group:
L Gentile, S Messina, C Stancanelli, G L Vita, C Iacovelli, D Figliolia, S Silipo, I Cabrini, C Pisciotta, S Tozza, M Contini

Affiliations

¹ Department of Neuroscience, Don Carlo Gnocchi Onlus Foundation, Milan, Italy.
² Department of Geriatrics, Neuroscience and Orthopedics, Catholic University of the Sacred Heart, Rome, Italy.
³ Department of Clinical Neurosciences, IRCCS Foundation, 'C. Besta' Neurological Institute, Milan, Italy.
⁴ Department of Neuroscience, Ospedale San Martino Genova, Genoa, Italy.
⁵ Department of Neurological, Biomedical and Motor Sciences, University of Verona, Verona, Italy.
⁶ UOC Neurologia B, AOUI Verona, Verona, Italy.
⁷ Department of Neurological Sciences, Reproductive Sciences and Odontostomatological, 'Federico II' University, Naples, Italy.
⁸ Department of Neurosciences, University of Parma, Parma, Italy.
⁹ Department of Medical Sciences, 'Magna Graecia' University, Catanzaro, Italy.
¹⁰ Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
¹¹ Nemo Sud Clinical Center for Neuromuscular Diseases, Messina, Italy.

PMID: 27160471
DOI: 10.1111/ene.13033

Abstract

Background and purpose: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy, but therapeutic options have been limited to symptom management. Past pharmacological trials have failed, possibly due to insensitive outcome measures (OMs). The aim of the current study was to evaluate the validity and reliability of the 6-min walk test (6MWT) and StepWatch(™) Activity Monitoring (SAM) with other previously validated OMs in CMT disease.

Methods: A prospective multicenter study was performed, consecutively enrolling 168 CMT patients (104 with CMT1A, 27 with CMT1B, 37 with X-linked CMT) from Italian centers specializing in CMT care.

Results: Statistical analysis showed that the 6MWT was highly related with all previously used OMs. Some, but not all, SAM parameters were related to commonly used OMs but may provide more information about quality of life.

Conclusions: The current study demonstrated the validity and reliability of the 6MWT and SAM as OMs for CMT. Moreover, SAM provides data that correlate better with quality of life measures, making it useful in future rehabilitation trials.

Keywords: Charcot−Marie−Tooth; outcome measures; quality of life; rehabilitation.

Publication types

Multicenter Study
Validation Study

MeSH terms

Adolescent
Adult
Aged
Charcot-Marie-Tooth Disease / diagnosis*
Charcot-Marie-Tooth Disease / physiopathology
Female
Humans
Italy
Male
Middle Aged
Monitoring, Physiologic
Outcome Assessment, Health Care
Prospective Studies
Quality of Life*
Reproducibility of Results
Walk Test
Walking*
Young Adult