Ataxia - oculomotor apraxia type 4
MONDO:0014557Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene.
Also known as: AOA4, PNKP oculomotor apraxia or related oculomotor disease, ataxia - oculomotor apraxia type 4, oculomotor apraxia or related oculomotor disease caused by mutation in PNKP, ataxia-oculomotor apraxia 4, ataxia-oculomotor apraxia-4
38 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
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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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Brain study sheds light on Parkinson's and tics
Knowledge-focused CompletedThis completed study from the National Institute of Neurological Disorders and Stroke aimed to better understand how the brain controls movement and what goes wrong in movement disorders like Parkinson's disease, Tourette's syndrome, and dystonia. Over 1,200 adults—both patients …
Phase: NA • Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 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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Dystonia study reveals hidden brain changes beyond muscle twists
Knowledge-focused CompletedThis study looked at 102 adults with dystonia, a condition causing involuntary muscle contractions. Researchers used questionnaires and brain wave recordings to assess memory, attention, mood, and decision-making. The goal was to better understand the non-motor symptoms of dyston…
Phase: NA • Sponsor: IRCCS Centro Neurolesi Bonino Pulejo • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:02 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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Wrist-Worn gadget could help doctors monitor Parkinson's at home
Knowledge-focused CompletedThis study tested a wrist-worn device called the Personal KinetiGraph (PKG) to see if it can accurately measure movement problems in people with Parkinson's disease. Nineteen participants wore the device while researchers compared its readings to standard clinical tests and video…
Sponsor: Global Kinetics Corporation • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC