View clinical trials related to Charcot-Marie-Tooth Disease.
Filter by:The aim of the study is to analyze the natural history data data from Charcot-Marie-Tooth disease and related disorders in China, to assess the clinical, genetic, epigenetic features of patients with Charcot-Marie-Tooth disease, and to optimize clinical management.
An observational, non-interventional registry study to collect real-world data from people living with Charcot-Marie-Tooth disease (CMT) and its treatment, which will be available to researchers to further the knowledge of Charcot-Marie-Tooth disease and improve patient care.
The purpose of the study is to investigate utility and appropriateness of treatment interventions taking into account the presumed mechanisms of two main varieties of ulnar neuropathy at the elbow (UNE). The investigators hypothesize that in patients with UNE under the humeroulnar aponeurosis (HUA) surgical HUA release (simple decompression) is superior to conservative treatment. By contrast, in patients with UNE at the retroepicondylar (RTC) groove surgical HUA release (simple decompression) should not be superior to conservative treatment.
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
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 Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.
The purpose of this study is to develop and validate a clinical outcome measure to evaluate disability and disease progression of children 3 years of age and younger (infants and toddlers) with various types of Charcot-Marie-Tooth disease (CMT).
This is a 2-year follow-up study of a cohort of 60 CMT1A patients. The objective is to identify markers allowing to better understand the phenotypic variability observed on patients with CMT1A, to identify predictive markers of the disease's progression and to provide validated measurement tools that can be used as outcome measures in future clinical trials.
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 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).