Psychometrics evaluation of Charcot‐Marie‐Tooth Neuropathy Score (<scp>CMTNSv2</scp>) second version, using Rasch analysis

Sadjadi, Reza; Reilly, Mary M.; Shy, Michael E.; Pareyson, Davide; Laurá, Matilde; Murphy, Sinéad M.; Feely, Shawna; Grider, Tiffany; Bacon, Chelsea; Piscosquito, Giuseppe; Calabrese, Daniela; Burns, Ted M.

doi:10.1111/jns.12084

Cited by 64 publications

(85 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The CMT neuropathy score and CMTpaeds are disease severity scales based on symptoms, clinical examination and tasks, and for the CMTNS, neurophysiology [42,44]. In the recent vitamin C trials for CMT1A, the original version of the CMTNS was unable to detect disease progression over two years highlighting the need for new outcome measures [45].…”

Section: Therapeutic Advances In Cmt2mentioning

confidence: 99%

“…In the recent vitamin C trials for CMT1A, the original version of the CMTNS was unable to detect disease progression over two years highlighting the need for new outcome measures [45]. Longitudinal studies using a Rasch modified version of the CMTNS are underway [44]. The recent report by Morrow and colleagues that quantification of calf muscle fat fraction using lower limb MRI is able to detect disease progression over 12 months in CMT1A represents a significant advance in the development of responsive outcome measures for CMT [46**].…”

Section: Therapeutic Advances In Cmt2mentioning

confidence: 99%

See 1 more Smart Citation

Recent advances in the genetic neuropathies

Rossor

Tomaselli

Reilly

2016

Current Opinion in Neurology

Self Cite

View full text Add to dashboard Cite

Purpose of review Charcot-Marie-Tooth disease (CMT) is one of the commonest inherited neuromuscular diseases with a population prevalence of 1 in 2500. This review will cover recent advances in the genetics and pathomechanisms of CMT and how these are leading to the development of rational therapies. Recent findings Pathomechanistic and therapeutic target advances in CMT include the identification of the ErbB receptor signalling pathway as a therapeutic target in CMT1A and pharmacological modification of the unfolded protein response in CMT1B. In CMT2D, due to mutations in GARS, VEGF-mediated stimulation of the Nrp1 receptor has been identified as a therapeutic target. Preclinical advances have been accompanied by the publication of large natural history cohorts and the identification of a sensitive biomarker of disease (muscle MRI) that is able to detect disease progression in CMT1A over one year. Summary Advances in next generation sequencing technology, cell biology and animal models of CMT are paving the way for rational treatments. The combination of robust natural history data and the identification of sensitive biomarkers mean that we are now entering an exciting therapeutic era in the field of the genetic neuropathies.

show abstract

Section: Therapeutic Advances In Cmt2mentioning

confidence: 99%

Section: Therapeutic Advances In Cmt2mentioning

confidence: 99%

Recent advances in the genetic neuropathies

Rossor

Tomaselli

Reilly

2016

Current Opinion in Neurology

Self Cite

View full text Add to dashboard Cite

show abstract

“…In the Rasch analysis of Sadjadi et al . [18] of the CMTNS-v2, all of the items showed good fit supporting the idea that they belong in the scale and contribute to the overall score of impairment. Although the CMTNS-v2 presents some modifications to the CMTNS in terms of categories or instruments of measure, they are very similar and can be discussed together here.…”

Section: Discussionmentioning

confidence: 61%

“…[19] by adding three functional measures while removing three of the initial items, and finally a ‘weighted’ alternative of the CMTNS-v2 by Sadjadi et al . [18] resulting from a Rasch analysis. None of these modified versions have been evaluated in natural history or therapeutic trials.…”

Section: Discussionmentioning

confidence: 99%

“…[17] in an attempt to reduce the aforementioned effects and to standardize patient assessment. This version has also been questioned recently and a ‘weighted’ alternative has been suggested as a potential improvement [18]. Finally, a modified CMTNS (called CMTNS-Mod) has also been proposed by adding three functional measures (9-hole peg test, foot dorsiflexion and walk test) while removing four of the initial items (‘ Ulnar SNAP ’, ‘ Pin Sensibility ’, ‘ Vibration ’ and ‘ Strength of Arms ’) [19].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients

et al. 2017

View full text Add to dashboard Cite

The Charcot-Marie-Tooth Neuropathy Score (CMTNS) was developed as a main efficacy endpoint for application in clinical trials of Charcot-Marie-Tooth disease type 1A (CMT1A). However, the sensitivity of the CMTNS for measuring disease severity and progression in CMT1A patients has been questioned. Here, we applied a Rasch analysis in a French cohort of patients to evaluate the psychometrical properties of the CMTNS. Overall, our analysis supports the validity of the CMTNS for application to CMT1A patients though with some limitations such as certain items of the CMTNS being more suitable for moderate to severe forms of the disease, and some items being disordered. We suggest that additional items and/or categories be considered to better assess mild-to-moderate patients.

show abstract

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

Wang

Davison

Wang

et al. 2019

Ann Clin Transl Neurol

View full text Add to dashboard Cite

ObjectiveDevelopment of biomarkers for Charcot‐Marie‐Tooth (CMT) disease is critical for implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a genomic duplication surrounding the PMP22 gene. A recent report (Neurology 2018;90:e518–3524) showed elevation of neurofilament light (NfL) in plasma of CMT1A disease patients, which correlated with disease severity. However, no plasma/serum biomarker has been identified that is specific to Schwann cells, the most directly affected cells in CMT1A.MethodsWe used the Olink immuno PCR platform to profile CMT1A patient (n = 47, 2 cohorts) and normal control plasma (n = 41, two cohorts) on five different Olink panels to screen 398 unique proteins.ResultsThe TMPRSS5 protein (Transmembrane protease serine 5) was elevated 2.07‐fold (P = <0.0001) in two independent cohorts of CMT1A samples relative to controls. TMPRSS5 is most highly expressed in Schwann cells of peripheral nerve. Consistent with early myelination deficits in CMT1A, TMPRSS5 was not significantly correlated with disease score (CMTES‐R, CMTNS‐R), nerve conduction velocities (Ulnar CMAP, Ulnar MNCV), or with age. TMPRSS5 was not significantly elevated in smaller sample sets from patients with CMT2A, CMT2E, CMT1B, or CMT1X. The Olink immuno PCR assays confirmed elevated levels of NfL (average 1.58‐fold, P < 0.0001), which correlated with CMT1A patient disease score.InterpretationThese data identify the first Schwann cell‐specific protein that is elevated in plasma of CMT1A patients, and may provide a disease marker and a potentially treatment‐responsive biomarker with good disease specificity for clinical trials.

show abstract

Psychometrics evaluation of Charcot‐Marie‐Tooth Neuropathy Score (CMTNSv2) second version, using Rasch analysis

Cited by 64 publications

References 15 publications

Recent advances in the genetic neuropathies

Recent advances in the genetic neuropathies

A Rasch Analysis of the Charcot-Marie-Tooth Neuropathy Score (CMTNS) in a Cohort of Charcot-Marie-Tooth Type 1A Patients

Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A

Contact Info

Product

Resources

About