Intellectual disability, autosomal dominant 5
MONDO:0012960Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene.
Also known as: MRD5, SYNGAP1 autosomal dominant non-syndromic intellectual disability, SYNGAP1-related developmental and epileptic encephalopathy, autosomal dominant intellectual disability 5, autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1, epilepsy due to SYNGAP mutations, intellectual disability, autosomal dominant 5, intellectual disability, autosomal dominant type 5
9 clinical trials for this condition and its sub-types, 2 tagged with Intellectual disability, autosomal dominant 5 itself.
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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 By invitation onlyThis 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 3 • Sponsor: UCB Biopharma SRL • Aim: Symptom relief
Last updated Aug 16, 2026 00:00 UTC