View clinical trials related to Charcot-Marie-Tooth Disease.
Filter by:The purpose of this study is to determine whether PXT3003 is effective and safe in the treatment of Charcot-Marie-Tooth disease - Type 1 A (CMT1A). This double-blind study will assess in parallel groups 2 doses of PXT3003 compared to Placebo in CMT1A patients treated for 15 months.
Charcot Marie Tooth Disease is a family of inherited peripheral neuropathies, with over 70 causative genes identified to date.1-4 Muscle cramps are frequent in CMT, affecting up to 85% of patients with some subtypes of CMT. These cramps impact quality of life and have been identified as an important therapeutic target for clinical trials in CMT.1-4 There is no FDA approved treatment for muscle cramps.5 Mexiletine is a sodium channel blocker approved for treatment of arrhythmias. As a sodium channel blocker, mexiletine offers the promise of effective therapy for muscle cramps.
There is no golden universal standard for the diagnosis of Carpal Tunnel Syndrome (CTS). In this scenario, for a comparison of the effectiveness of the principal diagnostic tests CTS should determine how they affect the likelihood of disease through a clinical accuracy trial of good methodological quality in order to get answers to what is the best diagnostic strategy in clinical CTS practice. The paresthesia in nerve distribution territory median hands is the most common symptom in patients with CTS. The nuisance caused by paresthesia directly affects the quality of life of patients and impairs daily manual activities and sleep quality. To evaluate the remission of paresthesia is a major clinical criterion for improved STC being an expected relevant outcome for the patient. This study evaluated and compared the diagnostic accuracy of the ultrasonography (US) and electromyography (EMG), considering the postoperative status of remission of paresthesia as the reference standard in the diagnosis of CTS.
The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder and their family members. The samples to be collected will be obtained using minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA or RNA from these samples and use it to identify and confirm novel gene mutations and to identify genes which regulate the severity of motor neuron/neuromuscular diseases.
The purpose of this study is to identify the issues that have greatest impact on QOL for patients with Charcot Marie Tooth (CMT) Disease. Patients who have -registered in the Inherited Neuropathies Consortium Contact Registry will be invited to participate.
Aim of this prospective double blind randomized clinical trial is to understand the correlation of suprascapular neuropathy in the setting of large and massive tears of the shoulder rotator cuff and to investigate whether arthroscopic dissection of the superior transverse scapular ligament is positively related to the improvement of this neuropathy.
The purpose of this research study is to create and validate two patient reported outcome (PRO) questionnaires. PRO questionnaires ask questions that help to measure disability in patients with inherited neuropathies. These questionnaires ask questions about what participants think disability is for themselves or others with inherited neuropathies. These questionnaires are a useful tool when evaluating whether treatments are working in the day to day life of an individual, although there are currently no questionnaires available specifically for people who have Charcot Marie Tooth disease (CMT).
Study Hypothesis: Acetyl-l-carnitine increases nerve regeneration in patients with severe carpal tunnel syndrome. Carpal tunnel syndrome (CTS) is common, affecting almost 3% of the general population. In severe cases, nerve regeneration and functional recovery are incomplete even with surgery. The goal of this pilot project is to test a potentially promising medication, acetyl-l-carnitine (ALCAR). We will use a randomized, double blinded, placebo controlled study design. Along with surgery, those in the treatment group will also receive ALCAR while the other half in the control group will be given placebo. To gauge the effects of ALCAR, we will compare motor and sensory nerve growth as well as functional outcomes. The data from this study will provide crucial information when designing a full scale clinical trial. If successful, this will represent an important first step in finding a novel treatment to improve functional outcomes in patients with severe CTS.
This trial is studying Electrical Impedance Myography (EIM) for measuring muscle health. The trial is studying people with Amyotrophic Lateral Sclerosis (ALS), other neuromuscular diseases, and healthy volunteers to see if the EIM device can measure disease in muscle tissue.
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Foot deformities are frequent complications in CMT patients and orthopaedic surgery is often required. As yet there are no systematic studies on the management of orthopaedic complications in CMT patients and the current approach varies between centres. This study is a survey with the aim of understanding the current surgical approach to orthopaedic complications in CMT. The target population includes orthopaedic surgeons who perform surgical procedures for foot deformities in CMT patients attending centres participating in the Inherited Neuropathies Consortium (INC).