Clinical Research Directory

NT-3 Levels and Function in Individuals With CMT

This study will assess the serum NT-3 levels in individuals with the diagnosis of peripheral neuropathy or any type of Charcot-Marie-Tooth Neuropathy (CMT) and correlate this with function.

High-Tech Rehabilitation Pathway for Chronic Adult Neuromuscular Diseases - Fit4MedRob-Chronic MND Project

The primary objective is to demonstrate, in a population of chronic neuromuscular disease the non-inferiority of a rehabilitation treatment integrated with robotic and/or technological devices compared to traditional rehabilitation treatment in the level of fatigue. The main question it aims to answer is: Are high-tech rehabilitation interventions, including robotic systems, virtual reality, and stabilometric platforms, not inferior to traditional rehabilitation methods in improving balance, motor function, fatigue levels, sarcopenia, cognitive engagement, and overall quality of life in patients with chronic neuromuscular diseases (NMDs)? Researchers will compare a robotic treatment group, that consists in an high-tech rehabilitation, with a control group, that will receive the traditional rehabilitative treatment.

Charcot-Marie-Tooth Disease (CMT) Biological Sample Collection for IPSC Generation and Biobanking

The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Charcot-Marie-Tooth disease research and drug development by using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and/or store the samples for future use. Through this research, researchers hope to identify future treatments or even cures for Charcot-Marie-Tooth disease.

Natural History Study for Charcot Marie Tooth Disease

The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden, diagnostic journey, and prevalence of disease that will aid scientists in their work toward finding a cure. Participants will be asked to complete a Natural History Survey.

Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients

The study will consist of 2 periods: Double-blind Treatment and Open-Label Extension(OLE) Period. -Double-blind Treatment Period - This will be randomized, double-blind, placebo-controlled part of the study which will be conducted in parallel groups, ie,1 group receiving the active treatment (PXT3003) and the other group receiving placebo. Primary endpoint of the study will be assessed at Month 15. -Open-label Extension (OLE) Period - All subjects completing Double-blind Treatment Period will be given an opportunity to enter the OLE Period of the study and receive the active treatment (PXT3003). The duration of the OLE Period will be based on Sponsor discretion, ie, Sponsor intends to keep the study open until the study drug PXT3003 is commercially available. During this period, the long-term safety and efficacy of PXT3003 will be assessed as an exploratory objective. Double-blind Treatment Period Objectives: Primary: To evaluate the efficacy of treatment with PXT3003 (a fixed-dose combination of \[RS\]-baclofen, naltrexone hydrochloride \[HCl\], and D-sorbitol) compared to placebo in subjects with Charcot-Marie-Tooth disease type 1A (CMT1A). Secondary: To evaluate the safety and tolerability of PXT3003 treatment in subjects with CMT1A. Exploratory: To characterize the relationship between plasma biomarkers and response to PXT3003 treatment. OLE Period Objective: Exploratory: To evaluate the long-term safety and efficacy of PXT3003.

A Registered Cohort Study on Charcot-Marie-Tooth Disease

The aim of the study is to analyze the natural history data data from Charcot-Marie-Tooth disease and related disorders in China, to assess the clinical, genetic, epigenetic features of patients with Charcot-Marie-Tooth disease, and to optimize clinical management.