View clinical trials related to Charcot-Marie-Tooth Disease.
Filter by: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 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).
Rationale: Chronic abdominal pain is a frequently occurring condition. Although hardly ever considered, the abdominal wall is the primary cause in 10-30% of cases. Most often it is caused by entrapment of an intercostal nerve in the anterior rectus sheath, the Anterior Cutaneous Nerve Entrapment Syndrome (ACNES). Treatment consists of local anaesthetic injections combined with methyl-prednisolon. When ineffective, a neurectomy at the site of penetration out of the ventral rectus sheet should be considered. This neurectomy however is effective in 73% of cases, leaving some 25% of patients in pain. Whether these refractory ACNES patients suffer from underlying pathologic pain disorders is subject to investigation, by using quantitative sensory testing (QST). Objective: To investigate nociceptive processing and possible underlying pathological pain processing mechanisms in ACNES patients. Study design: An observational case-control study. Study population: Patients treated for ACNES (n = 50) compared to healthy controls from an existing database. Measurements: Quantitative sensory testing (QST) of nociception, performed after treatment of ACNES for both successfully treated and refractory patients in comparison to healthy controls. Visual Analogue Scores (VAS) measured before, during and after testing procedures. Pain Anxiety Symptom Scale (PASS) and Pain Catastrophizing Scale (PCS) questionnaires. Main study parameters: Pressure pain and electrical pain thresholds as investigated by QST. Secondary study parameters are VAS-scores and results of PASS and PCS questionnaires.
The postoperative course of the decompression of the median nerve in the carpal tunnel syndrome can sometimes be complicated by pain, paresthesias and other unpleasant symptoms, or may be characterized by a slow recovery of nerve function. Lipoic acid is considered to be a powerful and effective antioxidant with neuroprotective and neurotrophic properties. Dietary supplementation with lipoic acid helps reduce the damage to the nervous structure. Its action as a dietary supplement may positively modulate and accelerate healing after decompression of the median nerve. The aim of the study is to explore any possible effects of this molecule in the postoperative period after decompression of the median nerve at the wrist. Patients will be enrolled with proven carpal tunnel syndrome. By means of randomization, patients will be placed into one of two groups: Group A: surgical decompression of the median nerve followed by alpha lipoic acid, 800 mg daily for 40 days. Group B: surgical decompression of the median nerve followed by treatment with placebo The primary endpoint of the study will be Nerve conduction velocity at 3 months after surgery after 50 days of discontinuing treatment with alpha lipoic acid (TIOBEC) / PLACEBO.