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
27 clinical trials for this condition and its sub-types.
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Laser test could objectively measure nerve pain for first time
Diagnosis CompletedThis study tested whether a diode laser can act as a biomarker to measure neuropathic pain in people with peripheral neuropathy. Researchers compared pain responses to a lidocaine patch versus a placebo patch in 75 participants. The goal was to see if the laser test could disting…
Phase: NA • Sponsor: University of Utah • Aim: Diagnosis
Last updated Jun 27, 2026 12:09 UTC
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Can pressurized oxygen ease persistent concussion woes?
Symptom relief CompletedThis study tested whether breathing pure oxygen in a pressurized chamber (hyperbaric oxygen therapy) can help adults with persistent post-concussion symptoms like headaches, fatigue, and memory problems. Twenty participants with mild traumatic brain injury received either real tr…
Phase: PHASE2 • Sponsor: Essentia Health • Aim: Symptom relief
Last updated Jun 27, 2026 08:06 UTC
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Brain protein may guide hydrocephalus treatment
Knowledge-focused CompletedThis study looked at whether measuring a protein called NfL in the blood or spinal fluid can help doctors manage hydrocephalus, a condition where too much fluid puts pressure on the brain. Researchers studied 41 adults with this condition to see if NfL levels relate to symptoms a…
Phase: NA • Sponsor: University Hospital Hradec Kralove • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC
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Can a simple test spot brain risks before surgery?
Knowledge-focused CompletedThis completed study examined 129 older adults having elective orthopedic surgery under regional anesthesia. Researchers measured cognitive frailty and collected blood and spinal fluid to look for biomarkers of brain inflammation and degeneration. The goal was to see if these bio…
Sponsor: Baskent University • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:48 UTC