Effect of Neurodynamic Mobilization on Median Nerve Conduction Velocity in Carpal Tunnel Syndrome...
Median Nerve EntrapmentCarpal Tunnel SyndromeThe purpose of this study is to examine: The effect of neurodynamic mobilization on the sensory and motor median nerve conduction velocity in carpal tunnel syndrome. The effect of neurodynamic mobilization on the wrist pain in carpal tunnel syndrome. The effect of neurodynamic mobilization on the hand function in carpal tunnel syndrome.
NT-3 Levels and Function in Individuals With CMT
Charcot-Marie-Tooth DiseasePeripheral Neuropathy1 moreThis study will assess the serum NT-3 levels in individuals with the diagnosis of peripheral neuropathy or any type of Charcot-Marie-Tooth Neuropathy (CMT) and correlate this with function.
Research of SORD-CMT Natural History and Epalrestat Treatment
Charcot-Marie-Tooth Disease (CMT)Charcot-Marie-Tooth disease (CMT) is a group of the most common hereditary peripheral neuropathy with high clinical and genetic heterogeneity. Biallelic pathogenic variants in SORD gene leading to loss of function of SORD protein cause axonal degeneration. Current research suggests that SORD-CMT2 may be the most common subtype of AR-CMT2. The primary purpose of this study is to explore the natural history of SORD-CMT2 patients by detecting the ONLS scale score and serum sorbitol level changes at 6th, 12th, 24th, and 36th months and to evaluate the effectiveness and safety of epalrestat. Patients with strong treatment willingness and voluntary purchase of drugs are included in the epalrestat treatment group, and patients without drug treatment willingness are included in the control group. Patients in the drug treatment group take epalrestat (50 mg) orally three times daily. This study is expected to be carried out simultaneously in 5 hospitals in mainland China. About 30 SORD-CMT2 patients will be enrolled in this study, and the study period will be 36 months.
Metabolomic Exploration of Dysregulated Lipid Metabolism in MFN2-related CMT2A (MetaDLM_CMT2A)
Charcot-Marie-Tooth Disease Type 2ACharcot-Marie-Tooth (CMT) disease is the commonest sensitivo-motor inherited peripheral neuropathies with a prevalence of about 10-30 per 100,000. To date, more than 80 genes have been found responsible for CMT. Some of these genes code for mitochondrial proteins such as mitofusin 2 (MFN2). In the last few years, our laboratory has developed strong expertise in metabolomics. The MetaDLM_CMT2A project proposes to produce metabolomic and lipidomic maps in CMT2A plasma from a cohort of genetically and clinically characterized patients with a national recruitment. In the perspective of future clinical trials, these biomarkers and the better understanding of lipid metabolism defects in CMT2A would be of major interest in monitoring the evolution of the disease and developing specific therapeutic approaches.
Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
Spinal Muscular AtrophyCharcot-Marie-Tooth Disease6 moreThe 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.
Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A
Charcot-Marie-Tooth Neuropathy Type 1AThis 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.
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Charcot-Marie-Tooth DiseaseType Ia (Disorder)1 moreThis project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
Charcot Marie Tooth DiseaseThe primary goal of this project is to develop and test a Charcot Marie Tooth disease (CMT) Pediatric Scale for use in evaluation in natural history CMT study.
A Registered Cohort Study on Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth DiseaseThe 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.
Validation Study of Posturology Platforms for Evaluating Postural Control of Hemiparetic and Neuro-muscular...
Neuromuscular DiseasesHemiparesis1 moreThe instrumental evaluation of standing postural control by posturographic analysis supplements the clinical evaluation and, as such, is recommended by the French National Authority for Health (HAS 2007). The quantitative data obtained after a standardized postural examination appear relevant for the longitudinal follow-up of neuromuscular patients and hemiparetic patients. Neuro muscular (NM) diseases are progressive, these instrumental evaluations can highlight a deterioration or stabilization of postural control possibly not observable with the scores on clinical scales. The K-Force Plates, recently developed appear to be an interesting alternative to the stabilometry platforms currently used. Static and dynamic conditions in upright position are tested. Moreover, posturologic, kinematics data and clinical scores are correlated to increase understanding of strategies during postural control tasks in patients with stroke and in patients with NM disorders.