View clinical trials related to Charcot-Marie-Tooth Disease.
Filter by:The study aims to qualitatively and quantitively evaluate pain in patients suffering from CMT with 3 standardized questionnaires (SF-36, NPSI-G, PAIN DETECT) as well as its impact on the quality of life.
Here the investigators aim to show that a focused lower extremity resistance strength training program in patients with Charcot-Marie-Tooth disease (CMT) results in increased motor strength of ankle plantar- and dorsi-flexion. The investigators will use motor unit index MUNIX and hand held dynamometry to correlate strength changes. The investigators believe that increased strength will correlate with an increased motor unit number and as such will prove that axonal renervation or improved recruitment is possible with a focused exercises in patients with CMT. Additionally, the investigators will show that that MUNIX declines over a 12-week period in patients with CMT whom continue standard of care. This will identify MUNIX as a responsive marker for disease progression in addition to detecting functional improvement, which will be valuable for future clinical trials.
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.
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.
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.
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.
Charcot Marie Tooth (CMT) is the most common inherited neuropathy. It affects the nerves of the hands and feet first, slowly progressing towards the centre of the body. It causes varying degrees of weakness and reduced feeling, usually affecting the feet and ankles first. High incidence of falls and knock on effects in quality of life are common. This is a lifelong condition which, though not life limiting, does not have a cure. Research into the effect of balance rehabilitation in people with CMT has been limited to traditional exercises, which do not address the complex nature of balance impairments in this condition. Multi-sensory rehabilitation has proved beneficial in improving balance in people with sensory neuropathy. Research shows that strengthening trunk muscles can improve balance in older people. Trunk and muscles close to it are largely unaffected in people with CMT, therefore these muscles could be strengthened in these patients. This study proposes to assess the feasibility of multi-sensory balance training, strength training with a focus on the trunk and muscles close to the trunk, and falls management education. This comprehensive approach is reflective of a clinical physiotherapy programme. Though a life-long condition, many people with CMT lead full lives. A home based programme is proposed to so that patients can fit it into their lives without having to travel for treatment. Therapists will use self-management principles within treatment. Measurements will be taken prior to and following treatment including physical measures, questionnaires and interviews. The physiotherapy interventions will be taught home and data collection will be at the National Hospital for Neurology and Neurosurgery, University College London Hospitals (UCLH).
The single-center, open-label Phase II study has the objective of assess the effect of MD1003 on motor and sensory conduction in patients suffering from demyelinating polyneuropathies in 15 subjects.
The purpose of this study is to learn about focal compressive median neuropathy at the wrist (Carpal Tunnel Syndrome) and outcomes of therapies (e.g. conservative and surgery) in the upper extremities of patients diagnosed with an inherited neuropathy. All patients enrolled in the Rare Diseases Clinical Research Network (RDCRN) Inherited Neuropathies Consortium (INC) Contact Registry who have marked one of the following disorders: CMT1A, CMT1B, CMT2A, CMT4, CMTX, other known CMT peripheral neuropathy, other unknown CMT peripheral neuropathy, or Hereditary Neuropathy with liability to Pressure Palsies (HNPP), will be invited via email to participate in this online study.
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.