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Polyhydramnios, megalencephaly, and symptomatic epilepsy
MONDO:0012611A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3.
Also known as: PMSE syndrome, polyhydramnios, megalencephaly, and symptomatic epilepsy, PMSE, polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, polyhydramnios-megalencephaly-symptomatic epilepsy syndrome, pretzel syndrome
7 clinical trials for this condition and its sub-types, 0 tagged with Polyhydramnios, megalencephaly, and symptomatic epilepsy 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