Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.

ABSTRACT:

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 sever

SUBMITTER: Fledrich R 

PROVIDER: S-EPMC8265963 | biostudies-literature | 2017 Nov

REPOSITORIES: biostudies-literature