Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
MONDO:0017325A rare intellectual disability and epilepsy syndrome due to mutation in GRIN2A gene. It is characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.
Also known as: early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation, epilepsy, focal, with speech disorder and with or without impaired intellectual development
31 clinical trials for this condition and its sub-types.
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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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AI boosts brain scan accuracy in massive new trial
Diagnosis ENROLLING_BY_INVITATIONThis study tests whether an AI tool can help radiologists read brain CT and MRI scans more accurately and quickly. Researchers will compare how well doctors, AI alone, and doctors using AI together can spot abnormalities, urgent findings, and classify diseases. The goal is to red…
Sponsor: Yaou Liu • Aim: Diagnosis
Last updated Jun 27, 2026 11:00 UTC
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Virtual reality could calm anxious kids with autism at the dentist
Symptom relief ENROLLING_BY_INVITATIONThis study tests whether wearing a virtual reality (VR) headset during dental treatment can reduce fear and stress in children with mild intellectual disabilities or autism spectrum disorder. Two hundred children aged 6 to 12 will either receive standard dental care or use a VR h…
Phase: NA • Sponsor: Semmelweis University • Aim: Symptom relief
Last updated Jun 27, 2026 14:02 UTC
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Robot suit helps kids with movement disorders take steps at home
Symptom relief OngoingThis study tests a wearable robotic exoskeleton called EXPLORER in 15 children with movement problems from conditions like cerebral palsy. The goal is to see if it helps them walk better in their everyday environments, such as home and the community. The study focuses on safety, …
Phase: NA • Sponsor: MarsiBionics • Aim: Symptom relief
Last updated Jun 27, 2026 07:51 UTC
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300 volunteers help create medical image bank for science
Knowledge-focused OngoingThis study gathers MRI, CT, and ultrasound images from 300 adults—some healthy, some with kidney or brain disease—to build a collection for future not-for-profit research. No new treatments are being tested; the goal is to make medical images available to scientists for advancing…
Sponsor: Mario Negri Institute for Pharmacological Research • Aim: Knowledge-focused
Last updated Jun 26, 2026 13:28 UTC