L Padua1,2, 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 Vita10,11. 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.
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.
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 CMTpatients (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.
Authors: Marina Stavrou; Alexia Kagiava; Sarah G Choudury; Matthew J Jennings; Lindsay M Wallace; Allison M Fowler; Amanda Heslegrave; Jan Richter; Christina Tryfonos; Christina Christodoulou; Henrik Zetterberg; Rita Horvath; Scott Q Harper; Kleopas A Kleopa Journal: J Clin Invest Date: 2022-07-01 Impact factor: 19.456
Authors: L Mori; A Signori; V Prada; D Pareyson; G Piscosquito; L Padua; C Pazzaglia; G M Fabrizi; A Picelli; A Schenone Journal: Eur J Neurol Date: 2019-09-25 Impact factor: 6.089
Authors: Giuseppe Vita; Stefania La Foresta; Massimo Russo; Gian Luca Vita; Sonia Messina; Christian Lunetta; Anna Mazzeo Journal: Neuromuscul Disord Date: 2016-06-07 Impact factor: 4.296
Authors: Massimo Russo; Christian Lunetta; Riccardo Zuccarino; Gian L Vita; Maria Sframeli; Andrea Lizio; Stefania La Foresta; Cristina Faraone; Valeria A Sansone; Giuseppe Vita; Sonia Messina Journal: Sci Rep Date: 2020-09-23 Impact factor: 4.379