Charcot-Marie-Tooth disease type 5
MONDO:0010877Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity.
Also known as: Charcot-Marie-Tooth disease-pyramidal features syndrome, HMSN 5, hereditary motor and sensory neuropathy type 5, CMT with pyramidal features, Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant, Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant, HMSN5, hereditary motor and sensory neuropathy 5
20 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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AI eye scan could diagnose brain diseases in seconds
Diagnosis CompletedResearchers tested an artificial intelligence program that analyzes retinal images to diagnose several nerve and brain conditions, such as optic neuropathy and brain tumors. The study used data from 693 patients with confirmed diagnoses. The goal is to create a fast triage tool f…
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild • Aim: Diagnosis
Last updated Jun 26, 2026 14:30 UTC
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Study explores how family and friends impact caregiver health
Knowledge-focused CompletedThis completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 02, 2026 00:00 UTC
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Smart homes for seniors: telemonitoring trial aims to cut hospital stays
Knowledge-focused CompletedThis study tested whether home automation and remote monitoring can help elderly people (65+) with multiple chronic conditions live safely at home. Over 500 participants had their homes equipped with sensors that tracked health signs and sent alerts to doctors. The main goal was …
Phase: NA • Sponsor: University Hospital, Limoges • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Italian swallowing assessment tool validated for neurodegenerative patients
Knowledge-focused CompletedThis study aimed to translate and validate an Italian version of a tool that helps speech therapists assess swallowing difficulties (dysphagia) in people with neurodegenerative diseases like Parkinson's or ALS. Researchers tested the tool on 101 adults with such conditions to ens…
Sponsor: Istituti Clinici Scientifici Maugeri SpA • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:09 UTC
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Brain scans and memory tests shed light on how the brain works after injury
Knowledge-focused CompletedThis completed study looked at how different types of brain damage—from strokes, tumors, infections, or degenerative diseases—affect thinking and memory. Researchers used brain scans (MRI) and cognitive tests in 346 patients and healthy volunteers to map which brain areas are res…
Phase: NA • Sponsor: University Hospital, Rouen • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:02 UTC