View clinical trials related to Charcot-Marie-Tooth Disease.
Filter by:An Open, Dose-escalation, Phase 1b Clinical Trial to Evaluate the Safety and Efficacy of EN001 in Patients with Charcot-Marie-Tooth Disease type 1A (CMT1A)
The investigators have found recent promising data supporting the use of a currently FDA approved drug, 4-aminopyridine, in the treatment of nerve injury including compression neuropathy. The purpose of this research is determine whether 4-aminopyridine can delay the need for formal surgical release in patients with known carpal tunnel syndrome who would otherwise undergo surgery.
Low back pain is one of the most common musculoskeletal disorders affects individuals at least one during lifetime. Chronic low back pain (CLBP) lasts more than 3 months and decreases quality of life and causes work loss all over the world. Most common causes of Chronic Low back pain (CLBP) are lumbar disc herniation and/or degeneration, degenerative facet joints and sacroiliac joint pathologies, However, superior cluneal nerve (SCN) entrapment is another cause of CLBP that is ignored. It was reported that Superior cluneal nerve entrapment prevalence is % 1,6 - % 14 in CLBP patients. The Cluneal Nerves originate from the cutaneous branches of the dorsal ramus at T11-L4 and SCN innervates the skin of the upper part of the gluteal region. The nerves pass over the iliac crest through a tunnel formed by the thoracolumbar fascia and the upper edge of the iliac crest, that is the entrapment area. There are methods such as nerve blocks, neuromodulations and surgery in resistant cases. However, SCN entrapment is an overlooked diagnosis that should be considered in differential diagnosis. Recently, radiofrequency ablation (RFA) of the SCN was performed under fluoroscopic guidance, total of 78% of patients reported nearly full analgesia for an average of 3 months. Although ultrasound-guided imaging and blocking of SCN is well described, there was not enough study that shows the effectiveness of ultrasound-guided SCN RFA and compares it to conventional physical therapy (CPT) in the treatment of CLBP.
Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral nerve disease that causes causes muscle atrophy, muscle weakness, sensory loss, balance disorder, gait disorder, blindness, hearing disorder, breathing disorder, vocal cord paralysis, foot deformity, scoliosis, and reflex dysfunction, More than 140 types of genes causing this disease are known. Charcot-Marie-Tooth (CMT) 1E, the target disease of this study, shows very severe symptoms compared to other Charcot-Marie-Tooth types. In cases of early onset, especially in children under 5 years of age, almost all patients are unable to walk without a wheelchair and have severe illness. Symptoms include scoliosis, breathing problems, vocal cord paralysis, foot deformity, loss of sensation and reflex function. Additionally, more than 40% of Charcot-Marie-Tooth (CMT) 1E patients have hearing loss and become unable to live without hearing aids. Although this disease is very disabling, there is still no approved treatment. To date, there is a lack of practical treatment or treatment support methods that can change the progression of hereditary motor and sensory neuropathy, so the focus is on pain control, use of assistive devices, and rehabilitation treatment, but the treatment effect is almost non-existent. This study is conducted for the purpose of confirming the safety and exploratory treatment effect by administering EN001, an allogeneic umbilical cord-derived mesenchymal stem cell, once intravenously to patients with Charcot-Marie-Tooth (CMT) 1E. EN001 is an allogeneic (alien-derived) umbilical cord-derived mesenchymal stem cell, and a phase 1 clinical trial of single intravenous administration was completed in 9 Charcot-Marie-Tooth (CMT) type 1A patients. Among the four adverse reactions that occurred in the participating research subjects, there were no adverse drug reactions related to EN001, and all four cases were mild and recovered. No serious adverse drug reactions or infusion reactions were observed in any study subjects, so this is a safe stem cell treatment. Through efficacy tests and non-clinical tests, the effectiveness of improving behavior and increasing nerve and motor conduction speeds when administering the test drug to animal models of muscle disease was confirmed, so it is expected that this study can stabilize the disease progression in patients, and it will contribute to improving the quality of life and further promoting public health and welfare.
The New York Stem Cell Foundation (NYSCF) Research Institute is performing this research to accelerate Charcot-Marie-Tooth disease research and drug development by using cells from the body (such as skin or blood cells) to make stem cells and other types of cells, conduct research on the samples, perform genetic testing, and/or store the samples for future use. Through this research, researchers hope to identify future treatments or even cures for Charcot-Marie-Tooth disease.
This is a multicenter, longitudinal, prospective observational natural history study of subjects with a molecularly confirmed diagnosis of CMT4J. The study will enroll 20 subjects of any age into a uniform protocol for follow-up and evaluations. Subject visits will occur every 12 months + 4 weeks for up to 2 years.
This is a prospective cohort study of outpatient adults with chronic abdominal wall pain receiving abdominal wall injections, as part of their usual care, with lidocaine. Subjects will be recruited at the outpatient gastroenterology clinic at OHSU.
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines. DPPMs can cause dysfunctions throughout the body, especially in the brain, blood, kidneys, and immune system. People with DPPMs might have no symptoms, mild symptoms, or they may have severe, chronic symptoms, that can be fatal. DPPMs are not well understood, and researchers want to learn more about what causes them and how to treat them. Objective: To learn more about factors that affect DPPMs by comparing test results from affected, uaffected family members, and healthy people. Eligibility: Three types of participants are needed: people aged 1 month and older with DPPMs; their family members who do not have DPPMs; and healthy volunteers. Design: Participants with DPPMs will come to the clinic once a year; some may be asked to come more often. At each visit, all affected participants will have a physical exam and give samples of blood, urine, saliva, and stool. Depending on their symptoms, they may also have other procedures, such as: Swabs of their skin and inside the mouth. Tests of their heart, kidney, brain, and nerve function. Questionnaires about what they eat. Dental exams, and exams of their hearing and vision. Tests of their learning ability. Monitoring of their physical activity. Imaging scans. Photographs of their face and body. These tests may be spread over up to 7 days. Affected participants may remain in the study indefinitely if they wish to. Healthy volunteers and family members will have 1 study visit. They will have a physical exam and may be asked to give blood, urine, saliva, and stool samples.
Superior cluneal nerve entrapment (SCN) is a painful symptomatic condition related to compression by the thoracolumbar and gluteal bands of nerve outcrop, above the iliac crest. This syndrome is not considered in the classical differential diagnosis of lumbosacral spine disorders and is almost unknown in Italy. It is a neuropathic pain, acute, subacute, or chronic, evoked by mechanical stress at the level of the sensory territory corresponding to the superior cluneal nerve, easily found anatomically and evoked at a trigger point on the posterior iliac crest approximately 70mm from the midline and 45mm from the posterior superior iliac spine. SCN entrapment syndrome represents a not so infrequent syndrome. It is easily framed and treatment is effective in most cases. Therefore, diagnosis and treatment of this syndrome represents an excellent option in all those patients with low back pain that cannot be otherwise framed and resolved.
The project aims to investigate the validity, and reliability of outcome measures of muscle strength, functioning (gait, balance, and fine motor skills), physical activity, and patient-reported outcome measures of functioning (gait, balance, and fine motor skills), and daily living among patients with polyneuropathy. Further, the project aims to compare physical activity and patient-reported outcome measures of functioning (gait, balance, and fine motor skills), and daily living among patients with polyneuropathy with physical activity and patient-reported outcome measures of functioning (gait, balance, and fine motor skills) and daily living in healthy adults.