Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F17%3A10373538" target="_blank" >RIV/00216208:11130/17:10373538 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/17:10373538
Result on the web
<a href="https://doi.org/10.1136/jnnp-2017-315721" target="_blank" >https://doi.org/10.1136/jnnp-2017-315721</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1136/jnnp-2017-315721" target="_blank" >10.1136/jnnp-2017-315721</a>
Alternative languages
Result language
angličtina
Original language name
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A
Original language description
Background Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for the development of new therapies. Hence, there is a strong need for sensitive outcome measures such as disease and progression biomarkers, which would add powerful tools to monitor therapeutic effects in CMT1A. Methods We established a pan-European and American consortium comprising nine clinical centres including 311 patients with CMT1A in total. From all patients, the CMT neuropathy score and secondary outcome measures were obtained and a skin biopsy collected. In order to assess and validate disease severity and progression biomarkers, we performed qPCR on a set of 16 animal model-derived potential biomarkers in skin biopsy mRNA extracts. Results In 266 patients with CMT1A, a cluster of eight cutaneous transcripts differentiates disease severity with a sensitivity and specificity of 90% and 76.1%, respectively. In an additional cohort of 45 patients with CMT1A, from whom a second skin biopsy was taken after 2-3 years, the cutaneous mRNA expression of GSTT2, CTSA, PPARG, CDA, ENPP1 and NRG1-Iis changing over time and correlates with disease progression. Conclusions In summary, we provide evidence that cutaneous transcripts in patients with CMT1A serve as disease severity and progression biomarkers and, if implemented into clinical trials, they could markedly accelerate the development of a therapy for CMT1A.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
<a href="/en/project/NV16-30206A" target="_blank" >NV16-30206A: Whole genome sequencing and RNA sequencing - a tool for elucidation of the causes of rare types of hereditary neuropathies.</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Neurology, Neurosurgery and Psychiatry
ISSN
0022-3050
e-ISSN
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Volume of the periodical
88
Issue of the periodical within the volume
11
Country of publishing house
GB - UNITED KINGDOM
Number of pages
12
Pages from-to
941-952
UT code for WoS article
000412523500009
EID of the result in the Scopus database
2-s2.0-85031708881