SUMMARY:
This article is protected by copyright. All rights reserved.
TITLE:
Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study
DESCRIPTION:
OBJECTIVE: The paucity of longitudinal natural history studies in MPZ-neuropathy remains a barrier to clinical trials. We have completed a longitudinal natural history study in patients with MPZ-neuropathies across 13 sites of the Inherited Neuropathy Consortium.
CONTENT:
Ann Neurol. 2022 Oct 6. doi: 10.1002/ana.26518. Online ahead of print.
ABSTRACT
OBJECTIVE: The paucity of longitudinal natural history studies in MPZ-neuropathy remains a barrier to clinical trials. We have completed a longitudinal natural history study in patients with MPZ-neuropathies across 13 sites of the Inherited Neuropathy Consortium.
METHODS: Change in Charcot Marie Tooth Examination scores (CMTES) and Rasch modified CMTES (CMTES-R) scores were evaluated using longitudinal regression over a 5-year period in subjects with MPZ-neuropathy. Data from 139 patients with MPZ-neuropathy were examined.
RESULTS: The average baseline CMTES and CMTES-R scores were 10.84 (SD 6.0, range 0 – 28) and 14.60 (SD= 7.56, range 0 – 32), respectively. A mixed regression model showed significant change in CMTES at years 2-5 [mean change from baseline of 0.87 points at 2 years (p=0.008)]. Subgroup analysis revealed greater change in CMTES at 2 years in subjects with axonal as compared to demyelinating neuropathy [mean change of 1.30 points, (p=0.016) versus 0.06 points, (p=0.889)]. Patients with a moderate baseline neuropathy severity also showed more notable change, by estimate, than those with mild or severe neuropathy [mean 2 year change of 1.14 for baseline CMTES 8-14 (p=0.025), versus -0.03 for baseline CMTES 0-7 (p=0.958) and 0.25 for baseline CMTES ≥15 (p=0.6897)]. The progression in patients harboring specific MPZ mutations was highly variable.
INTERPRETATION: CMTES scores are sensitive to change over time in adult patients with axonal but not demyelinating forms of MPZ-neuropathy. Change in CMTES was greatest in patients with moderate baseline disease severity. These findings will inform future clinical trials of MPZ-neuropathies. This article is protected by copyright. All rights reserved.
PMID:36203352 | DOI:10.1002/ana.26518
SOURCE:
Annals of neurology
TAGS:
This article is protected by copyright All rights reserved This article is protected by copyright All rights reserved
CATEGORY:
Research
SUBCATEGORY:
n/a
DATE – PUBLISHED:
2022-10-07T05:41:29Z
DATE – DOI: 2022-10-07T05:41:29Z
DATE – PUBMED: 2022 Oct 6
DATE OUTPUT MATCHED: True
DATE – ADDED:
Fri, 07 Oct 2022 06:00:00 -0400
DATE – RETRIEVED:
10/07/22 07:00AM
2022-10-07T07:00:53-04:00
FEATURED IMAGE:
Media Uploaded (image/png)
IDENTIFIER:
pmid:36203352,doi:10.1002/ana.26518
PUBMED ID:
pubmed:36203352
DOI:
10.1002/ana.26518
LINK – PUBMED:
https://pubmed.ncbi.nlm.nih.gov/36203352/
LINK – DOI:
https://doi.org/10.1002/ana.26518
LINK – PUBLISHER:
https://onlinelibrary.wiley.com/doi/10.1002/ana.26518
REFERENCES:
CMT Treatment Report, Urgent Research, 2022-10-07T07:00:53-04:00, https://www.cmttreatmentreport.com.
