View clinical trials related to Charcot-Marie-Tooth Disease.
Filter by:Nerve entrapment as a cause of chronic abdominal pain is frequently overlooked. A series of nerves pass through the muscles of the abdomen before reaching the skin to carry sensations. They can get trapped within the muscles leading to severe pain resulting in a condition known as Abdominal Cutaneous Nerve Entrapment Syndrome (ACNES). ACNES affects between 10-30% of patients with chronic abdominal wall pain. A definitive diagnosis of ACNES is obtained by anaesthetising these nerves. Initial management includes education and avoidance of known triggers. It is common practice to inject steroid with local anaesthetic during the diagnostic injections itself to prolong pain relief. Like other nerve entrapment conditions, this is also refractory to medical treatment. Hence repeated injections and nerve entrapment release surgery are commonly carried out. In Aberdeen, a number of patients have been treated for this condition. A cohort of patients have benefitted with injection alone while recurrence has been noted in patients who have undergone surgery. This project aims to gain more understanding about the clinical course of patients with suspected ACNES by evaluation of the clinic progress.
This cohort study (participants with CMT and control participants) has two parts (Part 1: CMT1A cohort; Part2: CMT1B, CMT2A and CMTX1 cohort) and is proposed to take place over 3 years across three sites. Participants with CMT aged 5-60 for potential enrolment in the trial will be identified through the existing inherited neuropathy clinics at each site and control participants will be identified among the unaffected relatives and carers of the participants with CMT. If they show interest in participating, they will be given the relevant Patient Information Sheets, Written Consent forms and/or Assent forms. Half of the participants will be recruited at the UK sites (NHNN and GOSH) and the other half at the US collaborating site. Each participant will be invited to two separate research visits (12 months apart) for which travel expenses (return journey) will be reimbursed. Each research visit is expected to last approximately 3 hours and during it, relevant detailed clinical data will be collected (CMTPedS for participants with CMT aged 5-20, CMTESv2-R for participants with CMT over the age of 10, CMT-HI for participants with CMT over the age of 16) and the participant will also undergo an MRI scan (up to 45 minutes) of the lower limbs (feet and calves or calves and thighs). Two separate neuromuscular MRI protocols with specific sequences will be used for the scans of foot and calf muscles and scans of calf and thigh muscles. Blood samples for plasma NEFL levels will be optional at both research visits for the participants at the UK trial sites; plasma NEFL levels will be processed according to our previously published protocol
This clinical trial is an open-label one-time injection dose study in which scAAV1.tMCK.NTF3 will be administered by intramuscular injections into muscles in both legs in CMT1A subjects with PMP22 gene duplication. Three subjects ages 18 to 35 years receiving (8.87e11 vg/kg) will be enrolled.
The main purpose of this study is to assess the clinical feasibility of diffusion tensor imaging (DTI) for the diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). For thar purpose, investigator will compare, fractional anisotropy (FA) obtained by diffusion tensor imaging (DTI) MRI 3T on brachial plexus and cervical spinal nerve roots between patients with defined Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP), according to the EFNS 2010 criteria, and healthy controls. The secondary outcomes will be to compare DTI parameters (FA, ADC or Apparent Diffusion Coefficient) between CIDP patients, healthy volunteers, and patients with Charcot Marie Tooth disease type 1a (CMT1a) and MRI morphological parameters (T1, STIR) between these groups. Moreover, investigator will investigate the possible relationship between MRI parameters, clinical indices, and electrophysiological measure.
This project aims to understand how nerve mechanical properties are altered in patients with rare peripheral neuropathies . Stiffness of various peripheral nerves will be measured using ultrasound shear wave elastography. Patients will be compared with age-matched controls.
CMT is a rare disease for which novel treatments are being developed. Evaluation of intervention efficacy is hampered by slow progression and lack of sensitive outcome measures. Primary goal of the project is to identify and validate RNA and protein derived biomarkers in blood of CMT patients for selected outcome measures over 2 years. The investigators expect to develop more responsive outcome measures and circulating biomarkers to improve assessment of intervention efficacy in forthcoming therapeutic trials.
A cross-sectional study which will look at the effects of AFO's and vibrating insoles on balance performance in people with CMT disease.
The COMMIT Study will assess the safety and effectiveness of FLX-787 in men and women with Charcot-Marie-Tooth disease (CMT) experiencing muscle cramps. Participants will be asked to take two study products during the course of the study. One of these study products will be a placebo. Approximately 120 participants in 20 study centers across the United States are expected to take part. Participants will be in the study for approximately 3 months and visit the study clinic 3 times.
This is a multicenter, phase 2 study to evaluate the safety, tolerability, pharmacodynamics (PD), efficacy, and pharmacokinetics (PK) of ACE-083 in patients with Charcot-Marie-Tooth Disease Type 1 and Type X (CMT1 and CMTX), to be conducted in two parts. Part 1 is non-randomized, open-label, dose-escalation and Part 2 is randomized, double-blind, and placebo-controlled.
Prospective controlled clinical trial in which a minimally invasive microsurgical approach was used following the keyhole principle in 55 patients and 65 hands under local anesthesia and ambulatory strategy. All patients included in the study had an average of 3 months disease course and were considered refractory to conservative treatment. Patients were evaluated with stringent inclusion criteria with the Levine severity and functional status scale with a 2 year follow-up. Descriptive outcomes on the efficiency of this procedure are reported.