Conditions: Charcot-Marie-Tooth Disease Hereditary Neuropathy With Liability to Pressure Palsies Genetic Disorders
Keywords: PXT3003 Charcot-Marie-Tooth Disease Hereditary Motor and Sensory Neuropathies
Allocation: RANDOMIZED | Intervention model: PARALLEL
Enrollment: 80
Healthy volunteers: no

Brief summary:
The present trial is a randomized, placebo-controlled study evaluating 3 different doses of PXT3003 in patients with CMT1A disease.

Detailed description:
In addition to the safety and tolerability of the treatment, clinical, electrophysiological and biological endpoints (PMP22 mRNA, skin biopsy histology and plasma biomarkers) will be assessed. Standard laboratory tests and drug plasma concentrations will also be measured. Because of the slow progression of the disease and the nature of the observed symptoms, a minimum duration of 12 months of treatment is required in order to observe a potential improvement in any of the efficacy parameters.

Arms:
arm 1: Oral Liquid formulation, 1/100, bid, 12 months arm 2: Oral Liquid formulation, 1/50, bid, 12 months arm 3: Oral Liquid formulation, 1/10, bid, 12 months arm 4: Oral Liquid formulation, bid, 12 months

Interventions: intervention 1: PXT3003 Low dose intervention 2: PXT3003 Intermediate Dose intervention 3: PXT3003 High Dose intervention 4: Placebo
Intervention descriptions: intervention 1: Liquid,5 ml, twice a day, 12-month treatment intervention 2: Liquid,5 ml, twice a day, 12-month treatment intervention 3: Liquid,5 ml, twice a day, 12-month treatment intervention 4: Liquid,5 ml, twice a day, 12-month treatment

Protocol document: