Charcot-Marie-Tooth disease

This early-stage trial tests a new drug called EDK060 in 28 adults with Charcot-Marie-Tooth type 1A, a genetic nerve disorder. Participants receive a single dose of EDK060 or a placebo to check safety and how the drug moves through the body. The goal is to see if EDK060 is safe e…

This early-phase trial tests a stem cell product called EN001 in 27 adults with Charcot-Marie-Tooth disease type 1A, a genetic nerve disorder that causes muscle weakness. The study has two parts: first, an open-label phase to check safety and find the right dose; second, a placeb…

This trial tests whether adding focal tendon vibration to a two-week intensive rehabilitation program can improve balance in adults with Charcot-Marie-Tooth disease type 1A (CMT1A). CMT1A causes progressive muscle weakness and poor balance, often leading to falls. Participants wi…

This study tests whether a single ultrasound-guided injection of medicine around compressed leg nerves can relieve numbness, pain, and weakness in people with diabetes. 266 participants will be randomly assigned to get the real injection or a sham (fake) injection, and neither th…

This study tests whether a personalized exercise program can improve balance and physical function in adults with rare neuromuscular disorders like Charcot-Marie-Tooth disease, facioscapulohumeral muscular dystrophy, and myotonic dystrophy type 1. Participants will receive a 12-d…

This study tests whether whole-body electrical muscle stimulation (WB-EMS) can help adults with neuromuscular diseases like ALS, SMA, and muscular dystrophy exercise safely. Because these conditions weaken the nerves that control muscles, traditional exercise is often too hard. W…

This study tests whether high-intensity laser therapy (HILT) can reduce pain and improve hand function in people with mild-to-moderate carpal tunnel syndrome. Eighty adults will receive either real or sham laser treatment, plus a wrist splint. Researchers will measure pain, nerve…

This study tests a new home-based program that uses a special treadmill and virtual reality to help children with conditions like cerebral palsy, muscle diseases, or obesity improve their walking. About 30 children aged 6 to 17 will try the program at home for at least 3 sessions…

This study looks at whether an 8-week supervised resistance exercise program can improve muscle quality, physical function, and quality of life in young people aged 15–29 with Charcot-Marie-Tooth disease (a type of hereditary nerve disorder). Participants will do lower-body exerc…

Researchers are building a global registry to collect patient-reported surveys, genetic test results, and medical records from people with Charcot-Marie-Tooth disease and related inherited neuropathies. The study is open to children and adults with a confirmed or suspected diagno…

This study aims to learn more about rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

This study follows people with SPLIS, a rare inherited metabolic condition, to map its natural history—how the disease unfolds over time. Researchers will track growth, organ function, quality of life, and survival in about 28 participants. The goal is to understand the full rang…

This study looks at how different mutations in the MORC2 gene lead to different symptoms, from Charcot-Marie-Tooth disease to a more complex condition called DIFGAN. Researchers will collect skin and blood samples from 45 participants to measure epigenetic and genetic markers. Th…

This study looks at people with cavovarus foot deformity (a complex foot shape) due to Charcot-Marie-Tooth disease. Researchers want to see if a simple physical exam can identify different foot types, which currently requires special software. If successful, this could help surge…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study is testing whether a smartphone app can accurately measure how people walk, without needing special markers or equipment. Researchers will compare the app's measurements to a standard motion-capture system in 30 volunteers—some with neuromuscular diseases like SMA or m…

This study looks at tremor (shaking) in people with Charcot-Marie-Tooth (CMT) disease, a nerve condition. Researchers will use muscle and movement tests to better understand why tremor happens and how it affects daily life. About 75 adults with CMT will take part, including some …

This study looks at how often people with Charcot-Marie-Tooth disease (CMT) have problems with their autonomic nervous system, which controls things like heart rate and sweating. Researchers will use questionnaires and simple, non-invasive tests to measure these symptoms in 50 ad…

This study aims to find early biological markers (biomarkers) for Charcot-Marie-Tooth disease type 1A (CMT1A), a common inherited nerve disorder. Researchers will analyze blood and nerve samples from 70 people aged 10-30 with CMT1A, along with animal models, to identify signs tha…

This study examines the role of the plantaris, a small calf muscle, in children having surgery for tight ankles (equinus). Researchers will randomly change the order of tendon cuts during surgery to measure how much each contributes to ankle movement. The goal is to understand if…

This study follows 75 adults with CMT1A and 25 healthy volunteers over five years to track how the disease progresses. Researchers will analyze blood and skin samples to find biomarkers that could make future clinical trials faster and more reliable. The goal is to better underst…

This study looks at how nerves work in people with Charcot-Marie-Tooth disease and other nerve disorders like CIDP. Researchers will use special electrical tests and ultrasound to measure nerve and muscle changes. The goal is to better understand these conditions, not to test a n…

This study aims to find better ways to measure fatigue and walking problems in people with neuromuscular diseases like muscular dystrophy and spinal muscular atrophy. Researchers will use a wearable sensor to track physical activity for one week in daily life and during a walking…

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

This observational study follows up to 5,000 people with Charcot Marie Tooth disease (CMT) types 1B, 2A, 4A, and 4C over five years. Researchers will measure symptoms, nerve function, and disability using special scales to understand how the disease changes over time. The goal is…

This study aims to find new genes that cause Charcot-Marie-Tooth disease (CMT) and discover why symptoms differ among people with the same genetic change. Researchers will analyze DNA from up to 1,050 participants to identify genetic modifiers and unknown causes. The goal is to b…

This study looks at how well ankle-foot orthoses (AFOs) and surgical correction help people with Charcot-Marie-Tooth disease (CMT) and cavovarus foot deformity walk and keep their balance. Researchers will test 66 participants on stepping, walking speed, and balance confidence. T…