TY - JOUR
T1 - A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores
AU - Fridman, Vera
AU - Sillau, Stefan
AU - Acsadi, Gyula
AU - Bacon, Chelsea
AU - Dooley, Kimberly
AU - Burns, Joshua
AU - Day, John
AU - Feely, Shawna
AU - Finkel, Richard S.
AU - Grider, Tiffany
AU - Gutmann, Laurie
AU - Herrmann, David N.
AU - Kirk, Callyn A.
AU - Knause, Sarrah A.
AU - Laurá, Matilde
AU - Lewis, Richard A.
AU - Li, Jun
AU - Lloyd, Thomas E.
AU - Moroni, Isabella
AU - Muntoni, Francesco
AU - Pagliano, Emanuela
AU - Pisciotta, Chiara
AU - Piscosquito, Giuseppe
AU - Ramchandren, Sindhu
AU - Saporta, Mario
AU - Sadjadi, Reza
AU - Shy, Rosemary R.
AU - Siskind, Carly E.
AU - Sumner, Charlotte J.
AU - Walk, David
AU - Wilcox, Janel
AU - Yum, Sabrina W.
AU - Züchner, Stephan
AU - Scherer, Steven S.
AU - Pareyson, Davide
AU - Reilly, Mary M.
AU - Shy, Michael E.
PY - 2020/3/3
Y1 - 2020/3/3
N2 - ObjectiveTo evaluate the sensitivity of Rasch analysis-based, weighted Charcot-Marie-Tooth Neuropathy and Examination Scores (CMTNS-R and CMTES-R) to clinical progression in patients with Charcot-Marie-Tooth disease type 1A (CMT1A).MethodsPatients with CMT1A from 18 sites of the Inherited Neuropathies Consortium were evaluated between 2009 and 2018. Weighted CMTNS and CMTES modified category responses were developed with Rasch analysis of the standard scores. Change from baseline for CMTNS-R and CMTES-R was estimated with longitudinal regression models.ResultsBaseline CMTNS-R and CMTES-R scores were available for 517 and 1,177 participants, respectively. Mean ± SD age of participants with available CMTES-R scores was 41 ± 18 (range 4-87) years, and 56% were female. Follow-up CMTES-R assessments at 1, 2, and 3 years were available for 377, 321, and 244 patients. A mixed regression model showed significant change in CMTES-R score at years 2 through 6 compared to baseline (mean change from baseline 0.59 points at 2 years, p = 0.0004, n = 321). Compared to the original CMTES, the CMTES-R revealed a 55% improvement in the standardized response mean (mean change/SD change) at 2 years (0.17 vs 0.11). Change in CMTES-R at 2 years was greatest in mildly to moderately affected patients (1.48-point mean change, 95% confidence interval 0.99-1.97, p < 0.0001, for baseline CMTES-R score 0-9).ConclusionThe CMTES-R demonstrates change over time in patients with CMT1A and is more sensitive than the original CMTES. The CMTES-R was most sensitive to change in patients with mild to moderate baseline disease severity and failed to capture progression in patients with severe CMT1A.ClinicalTrials.gov identifierNCT01193075.
AB - ObjectiveTo evaluate the sensitivity of Rasch analysis-based, weighted Charcot-Marie-Tooth Neuropathy and Examination Scores (CMTNS-R and CMTES-R) to clinical progression in patients with Charcot-Marie-Tooth disease type 1A (CMT1A).MethodsPatients with CMT1A from 18 sites of the Inherited Neuropathies Consortium were evaluated between 2009 and 2018. Weighted CMTNS and CMTES modified category responses were developed with Rasch analysis of the standard scores. Change from baseline for CMTNS-R and CMTES-R was estimated with longitudinal regression models.ResultsBaseline CMTNS-R and CMTES-R scores were available for 517 and 1,177 participants, respectively. Mean ± SD age of participants with available CMTES-R scores was 41 ± 18 (range 4-87) years, and 56% were female. Follow-up CMTES-R assessments at 1, 2, and 3 years were available for 377, 321, and 244 patients. A mixed regression model showed significant change in CMTES-R score at years 2 through 6 compared to baseline (mean change from baseline 0.59 points at 2 years, p = 0.0004, n = 321). Compared to the original CMTES, the CMTES-R revealed a 55% improvement in the standardized response mean (mean change/SD change) at 2 years (0.17 vs 0.11). Change in CMTES-R at 2 years was greatest in mildly to moderately affected patients (1.48-point mean change, 95% confidence interval 0.99-1.97, p < 0.0001, for baseline CMTES-R score 0-9).ConclusionThe CMTES-R demonstrates change over time in patients with CMT1A and is more sensitive than the original CMTES. The CMTES-R was most sensitive to change in patients with mild to moderate baseline disease severity and failed to capture progression in patients with severe CMT1A.ClinicalTrials.gov identifierNCT01193075.
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U2 - 10.1212/WNL.0000000000009035
DO - 10.1212/WNL.0000000000009035
M3 - Article
C2 - 32047073
AN - SCOPUS:85081131083
VL - 94
SP - e884-e896
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 9
ER -