POLR-related leukodystrophy
MONDO:0100605A rare hypomyelinating leukodystrophy disorder in which the cause of the disease is a variation in any of the POLR genes, including POLR1C, POLR3A or POLR3B. It is characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms.
Also known as: 4H leukodystrophy
16 clinical trials for this condition and its sub-types.
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Broader categories
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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
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC