Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
MONDO:0958231Any neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor overall growth, severely impaired motor development, and dysmorphic facial features due to a variation in the PUM1 gene.
Also known as: PUM1-associated developmental disability-ataxia-seizure syndrome
25 clinical trials for this condition and its sub-types.
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Robots as rehab coaches: a new approach to retraining coordination in ataxia
Disease control OngoingThis trial tests whether robot-assisted neurorehabilitation can improve coordination, balance, and walking in adults with ataxia, a condition that affects movement control. Participants will receive either robotic or standard rehabilitation, and researchers will measure changes i…
Phase: NA • Sponsor: Somogy Megyei Kaposi Mór Teaching Hospital • Aim: Disease control
Last updated Jul 31, 2026 00:00 UTC
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Real-World study tracks Epidyolex's Long-Term impact on seizures
Disease control OngoingThis study follows 158 people in France who are prescribed Epidyolex (a cannabidiol-based medicine) for seizures as part of their normal care. Researchers will track how long people stay on the treatment, side effects, seizure frequency, and changes in daily functioning and quali…
Sponsor: Jazz Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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New inhaler aims to stop prolonged seizures fast and safely
Symptom relief ENROLLING_BY_INVITATIONThis study tests the long-term safety of an inhaled medication called Staccato alprazolam for people aged 12 and older who have prolonged seizures. About 300 participants will use the inhaler when a seizure starts to see if it stops the seizure quickly and without serious side ef…
Phase: PHASE3 • Sponsor: UCB Biopharma SRL • Aim: Symptom relief
Last updated Aug 16, 2026 00:00 UTC
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Can a gentle brain zap help people with ataxia walk better?
Symptom relief OngoingThis study tests whether a non-invasive brain stimulation technique called transcranial direct current stimulation (tDCS) can improve movement in people with degenerative ataxia, a rare condition that damages the cerebellum and impairs balance and coordination. Sixteen participan…
Phase: NA • Sponsor: University of Cagliari • Aim: Symptom relief
Last updated Jun 27, 2026 08:00 UTC