Active clinical trials for "Charcot-Marie-Tooth Disease"

Lower back pain is a very common complaint in the Chronic Pain Clinic. Its etiology is nonspecific in 85% of the cases. In 1957, Strong and Davila reported that the superior cluneal nerves (SCNs) and middle cluneal nerves (MCNs) can be entrapped around the iliac crest, suggesting a causal relationship between this entrapment (SCN-Entrapment, SCN-E) and low back pain symptom. This is known today as "cluneal syndrome". Cluneal syndrome remains poorly investigated and is currently a diagnostic challenge. Various types of lumbar movements exacerbate its occurence. The most common theory regarding the origin of this pain evokes that is primarily due to a mechanical cause linked to stenosis or adhesions of fibrous tissue around the cluneal nerves causing distress. The hypothesis is that the investigator can reduce the pain related to the syndrome of superior cluneal origin thanks to a "volume effect" which aims to detach adhesions and/or aponeurotic stenoses that cause a distress of cluneal nerves. The aim of this study is to assess the effectiveness of the cluneal nerve block using theThomas Dahl Nielsen ultrasound based technique in patients with chronic low-back pain related to SCN-E. To this end, the investigator will compare physiological serum injection versus local anaesthetic injection, with the aim of reducing short-term pain and improving 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.

The purpose of this study is to determine whether the injection of triamcinolone and lidocaine is effective in relieving chronic abdominal wall pain.

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 observational study is to learn about sodium channel (Nav) mutations in patients with the Anterior Cutaneous Nerve Entrapment Syndrome (ACNES). This study will give more insight into the pathophysiology of ACNES, which is still largely unknown. The primary objective is to determine if there are mutations of Nav1.7 and Nav1.8 in patients with ACNES. Therefore, one blood sample will be drawn, in which the mutations will be analyzed.

Functional motor recovery distal to a peripheral nerve lesion is predicated upon time to reinnervation of the motor end plate and the number of regenerate axons that reach the target. Supercharged end-to-side (SETS) transfer of the anterior interosseous nerve to the motor fascicle of the ulnar nerve at the level of the distal forearm has been proposed as an adjunct procedure in severe cubital tunnel syndrome to augment motor recovery of the ulnar-innervated intrinsic muscles. Multiple Level IV Therapeutic studies and a systematic review of Level IV Therapeutic studies have reported favorable clinical and electrodiagnostic outcomes following SETS for cubital tunnel syndrome, with low rates of complications. However, in the absence of controls, it remains unclear what proportion of the observed intrinsic motor recovery is attributable to the SETS procedure. The objective of this randomized trial is to compare the results of ulnar nerve decompression with or without SETS for severe cubital tunnel syndrome.

The object of this research is to test the effectiveness of Coenzyme Q10 (CoQ10) on symptoms of weakness, fatigue, and pain in persons with Charcot-Marie-Tooth disease (CMT).In this study we also intend to examine the impact of daily supplementation on overall quality of life.We are also interested in identifying any differences in serum ratios of CoQ10 in the oxidized and reduced forms.

The objective of the present study is to compare the effectiveness of 5% dextrose, local corticosteroids injections and surgical release in patients with electrodiagnostically (EDx) mild to moderate carpal tunnel syndrome (CTS). The investigators hypothesize that in patients with mild to moderate CTS (1) local 5% dextrose injections is non-inferior to local corticosteroid injections at 12 months after treatment, and that (2) local 5% dextrose injections are of non-inferior effectiveness compared to surgical release at 6 months.

Charcot-Marie-Tooth neuropathy type 1A (CMT1A) is one of the most common inherited neurological disorders. The study will evaluate the efficacy and safety of an innovative rehabilitation protocol constituted by exercises at the treadmill and by a stretching and proprioceptive approach. A total of 92 patients will be enrolled in the study and treated in a controlled, randomized, single blind, way. To recruit a high number of patients with CMT1A the study will be multicentric and will comprehend four of the most active clinical centers in the field of CMT, in Italy. People with CMT1A are very motivated in entering rehabilitation protocols because to date there is no effective therapy for this disease. Therefore, the investigators expect a high compliance by the patients. With the present project the investigators plan to clarify several unanswered questions: 1) the efficacy and safety of treadmill over a more conventional protocol; 2) the duration and frequency of any rehabilitation treatment; 3) the most sensitive outcome measures to evaluate the efficacy of rehabilitation approach in patients with CMT.

The Charcot syndrome Marie Tooth is the most frequent hereditary neuromuscular diseases: there is no curative treatment at present, on the other hand precautionary measures can be taken (physiotherapy, port of splints, orthopaedic surgery and technical assistants). In the literature and in our recent study (evaluation of the pain in the disease of CMT - Reference center of the neuromuscular diseases - CHU Bow) the frequency of the pain is important varying from 66 to 96 % cases, affecting especially hands and lower limbs. The care of the pain in the Charcot syndrome Marie Tooth is not codified. The transcutaneous neurostimulation(TENS) is a not medicinal and not invasive therapeutics, without any brought back collateral effect, used at the same time in the chronic pain and acute since 1960, as well for the neuropathic pains that musculo-scrawny. No study was realized this day on the use of the TENS with analgesic aim in the CMT. We suggest studying the analgesic efficiency of the TENS in the Charcot syndrome Marie Tooth on the pains of lower limbs, the most frequent painful location in our recent works. The main objective will be to analyze the improvement of the pain of lower limbs, based on the decrease of the analogical visual scale(ladder) (EVA), at least 30 %. The secondary objectives will be to estimate repercussions on the functional capacities ( ONLS), the quality of life (SF(sci-fi) 12), the satisfaction (EVA), the global impression(printing) of change ( PGIC), the consumption of analgesic, DN4, NPSI (Neuropathic Pain Symptom Inventory), Concise Questionnaire of the Pains ( QCD), HAD (Hospital Anxiety and Depression scale).