Charcot-Marie-Tooth disease type 1F
MONDO:0011902A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..
Also known as: CMT1F, Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL, Charcot-Marie-Tooth disease, type 1F, NEFL Charcot-Marie-Tooth disease type 1, CMT 1F, Charcot Marie Tooth disease type 1F, Charcot-Marie-Tooth disease, demyelinating, type 1F, Charcot-Marie-Tooth neuropathy, type 1F
29 clinical trials for this condition and its sub-types, 21 tagged with Charcot-Marie-Tooth disease type 1F itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →-
Can a quick strike drug stop MS in its tracks?
Disease control Recruiting nowThis study tests whether giving the drug natalizumab (Tyruko) within two weeks of first MS symptoms can help repair nerve damage. Forty adults with a first episode of MS-like inflammation will receive either the drug or a placebo. The main goal is to see if early treatment improv…
Phase 2 • Sponsor: Queen Mary University of London • Aim: Disease control
Last updated Jun 27, 2026 08:09 UTC
-
A jolt to the brain may unlock words: testing tDCS for language in down syndrome
Symptom relief Recruiting nowThis trial tests whether a gentle electrical current applied to the brain, called transcranial direct current stimulation (tDCS), can boost language skills in adolescents and young adults with Down syndrome when paired with speech therapy. Thirty-six participants aged 12 to 21 wi…
Sponsor: Floriana Costanzo • Aim: Symptom relief
Last updated Jul 26, 2026 00:00 UTC
-
Global registry aims to map the full course of Charcot-Marie-Tooth disease
Knowledge-focused Recruiting nowResearchers 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…
Sponsor: Hereditary Neuropathy Foundation • Aim: Knowledge-focused
Last updated Sep 19, 2026 00:00 UTC
-
Blood tests could guide oxygen therapy for severe brain injury
Knowledge-focused Recruiting nowThis study looks at whether certain proteins in the blood can help doctors monitor severe traumatic brain injury and predict who might benefit from hyperbaric oxygen therapy. Researchers will analyze blood samples from 150 patients already enrolled in a larger trial testing diffe…
Sponsor: University of Michigan • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:01 UTC
-
Eye tracking could revolutionize MS monitoring
Knowledge-focused Recruiting nowThis study looks at whether a new eye-tracking device can help doctors see how well multiple sclerosis (MS) treatment is working. About 224 Canadian adults with relapsing-remitting MS will use the device during routine care. The goal is to find out if eye movement changes can rep…
Phase 4 • Sponsor: Novartis Pharmaceuticals • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC
-
What you eat may show up in your brain: new study recruits vegans, vegetarians, and meat eaters
Knowledge-focused Recruiting nowThis study looks at whether eating a vegan, vegetarian, or omnivore diet changes certain brain-related substances in the blood of healthy young adults. Researchers will measure two markers (NfL and GFAP) that can indicate brain cell health. The goal is simply to learn more, not t…
Sponsor: Salzburger Landeskliniken • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:07 UTC