Journal article

An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

Shahram Attarian, Jean-Michel Vallat, Laurent Magy, Benoit Funalot, Pierre-Marie Gonnaud, Arnaud Lacour, Yann Pereon, Odile Dubourg, Jean Pouget, Joelle Micallef, Jerome Franques, Marie-Noelle Lefebvre, Karima Ghorab, Mahmoud Al-Moussawi, Vincent Tiffreau, Marguerite Preudhomme, Armelle Magot, Laurene Leclair-Visonneau, Tanya Stojkovic, Laura Bossi Show all

ORPHANET JOURNAL OF RARE DISEASES | BMC | Published : 2014

Abstract

BACKGROUND: Charcot-Marie-Tooth type 1A disease (CMT1A) is a rare orphan inherited neuropathy caused by an autosomal dominant duplication of a gene encoding for the structural myelin protein PMP22, which induces abnormal Schwann cell differentiation and dysmyelination, eventually leading to axonal suffering then loss and muscle wasting. We favour the idea that diseases can be more efficiently treated when targeting multiple disease-relevant pathways. In CMT1A patients, we therefore tested the potential of PXT3003, a low-dose combination of three already approved compounds (baclofen, naltrexone and sorbitol). Our study conceptually builds on preclinical experiments highlighting a pleiotropic ..

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