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TrialConditionsStatusPhaseUpdatedMore infoNCT ID
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight2q37 microdeletion syndrome, Abnormalities, Multiple, Congenital Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Cri-du-chat syndrome, Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome, Neurobehavioral Manifestations, Neurologic Manifestations, autism spectrum disorder due to AUTS2 deficiency, central nervous system malformation, chromosomal disorder, chromosome 15q13.3 microdeletion syndrome, chromosome 15q24 deletion syndrome, chromosome 1q21.1 deletion syndrome, chromosome 1q21.1 duplication syndrome, cornea plana 1, autosomal dominant, developmental and epileptic encephalopathy, 4, hereditary disease, hereditary sensory and autonomic neuropathy, inherited neurodegenerative disorder, intellectual disability, intellectual disability, X-linked 1, nervous system disorder, neurodegenerative disease, neuromuscular disease, peripheral nervous system disorder, polyneuropathy, proximal 16p11.2 microdeletion syndrome, rhabdoid tumor predisposition syndrome 2RecruitingNot stated2026-07-23NCT01238250
A Multicentric European Study to Promote Clinical Trial Readiness for STXBP1-related Disordersbrain disorder, central nervous system disorder, developmental and epileptic encephalopathy, 4, epilepsy, nervous system disorderRecruitingNot stated2026-02-06NCT06625112
Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathydevelopmental and epileptic encephalopathy, developmental and epileptic encephalopathy, 4Active, not recruitingEarly phase 12026-01-22NCT04937062
STXBP1 and SYNGAP1 Related Disorders Natural History StudyCongenital, Hereditary, and Neonatal Diseases and Abnormalities, developmental and epileptic encephalopathy, 4, hereditary diseaseRecruitingNot stated2025-10-29NCT06555965
Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathydevelopmental and epileptic encephalopathy, 4Not yet recruitingNot stated2024-04-10NCT06356233