Charcot-Marie-Tooth disease type 4B2
MONDO:0011475Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.
Also known as: CMT4B2, Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2, Charcot-Marie-Tooth disease type 4B2, SBF2 Charcot-Marie-Tooth disease type 4, CMT 4B2, Charcot Marie Tooth disease type 4B2, Charcot-Marie-Tooth disease, type 4B2, Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma
10 clinical trials for this condition and its sub-types.
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Wearable gadget aims to stop falls in neuropathy patients
Symptom relief Recruiting nowThis study tests a device called Walkasins, worn on the lower legs, that vibrates to give sensory feedback about foot pressure. The goal is to see if using it daily for six months improves balance and walking in 200 adults aged 55+ with peripheral neuropathy. Participants will do…
Phase: NA • Sponsor: RxFunction Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 14:02 UTC
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Massive study seeks answers for rare inherited nerve diseases
Knowledge-focused Recruiting nowThis study aims to learn more about rare inherited disorders that affect the brain, spinal cord, muscles, and nerves. Researchers will collect medical history, perform exams, and run genetic tests on up to 3,500 participants. No new treatments are tested; the goal is to better un…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jul 03, 2026 23:00 UTC
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Bedside test may end guesswork in nerve pain treatment
Knowledge-focused Recruiting nowThis study aims to see if a quick bedside sensory test can predict which painkiller—pregabalin, duloxetine, or a placebo—works best for people with nerve pain in their feet. About 190 adults with diabetic, chemotherapy-related, or idiopathic nerve pain will try each treatment for…
Phase: PHASE2 • Sponsor: University of Rochester • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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New study aims to unravel nerve mysteries in rare diseases
Knowledge-focused Recruiting nowThis 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…
Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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4,000 patients to help unlock secrets of nerve disease
Knowledge-focused Recruiting nowThis study is collecting information from 4,000 adults with peripheral neuropathy (nerve damage) to better understand the condition. Researchers will combine standard tests with nerve ultrasound to see if it helps diagnose and track the disease. No new treatments are being tested…
Sponsor: Casa di Cura Dott. Pederzoli • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
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Liquid nerve biopsy could unlock ALS secrets
Knowledge-focused Recruiting nowThis study is collecting nerve samples and biofluids from 400 people with ALS or peripheral neuropathies to find biological markers for early diagnosis and disease tracking. By analyzing individual cells, researchers hope to identify molecular changes that happen before symptoms …
Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC
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Massive CMT study aims to map disease progression over five years
Knowledge-focused Recruiting nowThis 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…
Sponsor: Michael Shy • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC
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Scientists hunt for hidden genes behind nerve disease severity
Knowledge-focused Recruiting nowThis 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…
Sponsor: University of Iowa • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC