Last modified: 2014-04-03
Abstract
Introduction: Charcot-Marie-Tooth (CMT) disease is the most common inherited neurological disorder, currently associated with mutations in over 70 genes. There are no available therapies for CMT at the moment, but several clinical trials are being planned or underway. For these trials to deliver meaningful data, validated functional scales and natural history information are necessary. The CMT Pediatric scale (CMTPedS) is a validated outcome measure of disease severity and is a useful metric for clinical trials.
Method: This study is part of a broader research project that aims to investigate the clinical and functional characteristics of Brazilian children with CMT by revalidating a Brazilian version of CMTPedS: the CMTPedS.br. Translation and cultural adaptation will be performed according to the steps previously described by Beaton et al. The subjects will be patients with CMT seen in our institution, from age 3 to 20 years, without any other medical conditions that could interfere with their CMT phenotypes.
Results:
Results expected to be available by the time of the ICNC2014 meeting include:
- CMTPeds.br final version and statistical supportive data (e.g.: reliability test)
- Preliminary results from at least 10 patients.
DISCUSSION: This abstract aims to present preliminary results of a major project, which will offer a reliable tool to Brazilian physicians and researchers to evaluate their pediatric patients with CMT, and supports the worldwide use of the CMTPedS. We believe that validation of CMTPedS.br will allow Brazilian children to be potential candidates for future multicentric clinical trials.
Keywords
References
Burns, J et al. Ann Neurol. 2012 May;71(5):642-52
Saporta, M et al. Neurol Clin. 2013 May;31(2):597-619
Beaton, D et al. Spine (Phila Pa 1976). 2000 Dec 15;25(24):3186-91.