Developmental and epileptic encephalopathy, 9
MONDO:0010246Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
Also known as: DEE9, EFMR, EIEE9, Juberg-Hellman syndrome, PCDH19 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 9, developmental and epileptic encephalopathy, 9, early infantile epileptic encephalopathy caused by mutation in PCDH19
43 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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Could a urea cycle drug help kids with rare epilepsy?
Disease control OngoingThis early-phase trial is testing whether glycerol phenylbutyrate (Ravicti), a drug already approved for a different condition, is safe and tolerable for children with genetic disorders like STXBP1 and SLC6A1 that cause seizures and developmental delays. The study will enroll 50 …
Phase: EARLY_PHASE1 • Sponsor: Weill Medical College of Cornell University • Aim: Disease control
Last updated Jun 27, 2026 08:12 UTC
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New drug LP352 aims to control seizures in severe epilepsy over the long term
Disease control ENROLLING_BY_INVITATIONThis phase 3 study is testing the long-term safety and effectiveness of LP352 (Bexicaserin) in 324 children and adults with developmental and epileptic encephalopathy (DEE), including Dravet and Lennox-Gastaut syndromes. Participants who completed earlier studies will receive LP3…
Phase: PHASE3 • Sponsor: Longboard Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 08:08 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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New framework aims to prevent medication errors in vulnerable group
Knowledge-focused OngoingThis study works with 110 adults who have intellectual or developmental disabilities and receive care from a Norwegian municipality. The goal is to create better routines and digital tools to make sure they get the right medicines safely. Researchers will review each person's med…
Phase: NA • Sponsor: Vestvagoy Municipality • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 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