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ClinicalTrials.gov public records Last synced Sep 29, 2026, 6:32 PM EDT

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Showing 25–36 of 12 matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
Conditions
16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder), ACTL6B, ADNP, AHDC1, ANK2, ANKRD11, ARID1B, ASH1L, BCL11A, CHAMP1, CHD2, CHD8, CSNK2A1, CTBP1, CTNNB1 Gene Mutation, CUL3, DDX3X, DNMT3A, DSCAM, DYRK1A, FOXP1, GRIN2A, GRIN2B, HIVEP2-Related Intellectual Disability, HNRNPH2, KATNAL2, KDM5B, KDM6B, KMT2C Gene Mutation, KMT2E, KMT5B, MBD5, MED13L, PACS1, PPP2R5D-Related Intellectual Disability, PTCHD1, REST, SCN2A Encephalopathy, SETBP1 Gene Mutation, SETD5, SMARCA4 Gene Mutation, SMARCC2, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability, TBR1, ARHGEF9, HNRNPU, PPP3CA, PPP2R1A, SLC6A1, 2p16.3 Deletions, 5q35 Deletions, 5q35 Duplications, 7q11.23 Duplications, 15Q13.3 Deletion Syndrome, 16p11.2 Triplications, 16P12.2 Microdeletion, 16P13.11 Microdeletion Syndrome (Disorder), 17Q12 Microdeletion Syndrome (Disorder), 17Q12 Duplication Syndrome, 17Q21.31 Deletion Syndrome, 17q21.3 Duplications, ACTB, ADSL, AFF2, ALDH5A1, ANK3, ARX, ATRX Gene Mutation, AUTS2 Syndrome, BCKDK, BRSK2, CACNA1C, CAPRIN1, CASK, CASZ1, CHD3, CIC, CNOT3, CREBBP Gene Mutation, CSDE1, CTCF, DEAF1, DHCR7, DLG4, EBF3, EHMT1, EP300 Gene Mutation, GIGYF1, GRIN1, GRIN2D, IQSEC2-Related Syndromic Intellectual Disability, IRF2BPL, KANSL1, KCNB1, KDM3B, NEXMIF, KMT2A, MBOAT7, MEIS2, MYT1L, NAA15, NBEA, NCKAP1, NIPBL, NLGN2, NLGN3, NLGN4X, NR4A2, NRXN1, NRXN2, NSD1 Gene Mutation, PHF21A, PHF3, PHIP, PSMD12, RELN, RERE, RFX3, RIMS1, RORB, SCN1A, SETD2 Gene Mutation, SHANK2, SIN3A, SLC9A6, SON, SOX5, SPAST, SRCAP, TAOK1, TANC2, TCF20, TLK2, TRIO, TRIP12, UPF3B, USP9X, VPS13B, WAC, WDFY3, ZBTB20, ZNF292, ZNF462, 2Q37 Deletion Syndrome, 9q34 Duplications, 15q15 Deletions, 15Q24 Deletion, NR3C2, SYNCRIP, 2q37.3 Deletion, 6q16 Deletion, 15q11.2 BP1-BP2 Deletion, 16p13.3 Deletion, 17Q11.2 Microduplication Syndrome (Disorder), 17p13.3, Xq28 Duplication, CLCN4, CSNK2B, DYNC1H1, EIF3F, GNB1, MED13, MEF2C, RALGAPB, SCN1B, YY1, Xp11.22 Duplication, PACS2, MAOA, MAOB, HNRNPC, HNRNPD, HNRNPK, HNRNPR, HNRNPUL2, 5P Deletion Syndrome, TCF7L2 Gene Mutation, HECW2, PPM1D, RNU4-2, SNAP25, FOXP2, ITSN1
Interventions
Not listed
Lead sponsor
Simons Searchlight
Other
Eligibility
Not listed
Enrollment
100,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2050
U.S. locations
2
States / cities
Boston, Massachusetts • Lewisburg, Pennsylvania
Conditions
Genetic Disease, STXBP1 Encephalopathy With Epilepsy, SYNGAP1-Related Intellectual Disability
Interventions
Non-interventional study
Other
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
Not listed
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2028
U.S. locations
5
States / cities
Palo Alto, California • Aurora, Colorado • New York, New York + 2 more
Terminated Phase 2 Interventional Results available

Open-label Extension to Protocol 1042-0500

NCT00442104
Conditions
Infantile Spasms
Interventions
Ganaxolone
Drug
Lead sponsor
Marinus Pharmaceuticals
Industry
Eligibility
4 Months to 24 Months
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2009
U.S. locations
14
States / cities
Los Angeles, California • Washington D.C., District of Columbia • Miami, Florida + 10 more
Conditions
Neonatal Epilepsy, Infantile Epilepsy
Interventions
Genomic Sequencing
Genetic
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
600 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2029
U.S. locations
1
States / cities
Boston, Massachusetts
Completed No phase listed Observational

Epilepsy Phenome/Genome Project

NCT00552045
Conditions
Epilepsy, Localization-related Epilepsy, Infantile Spasms, Lennox-Gastaut Syndrome, Polymicrogyria, Periventricular Heterotopias
Interventions
Not listed
Lead sponsor
University of California, San Francisco
Other
Eligibility
4 Weeks to 60 Years
Enrollment
4,150 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2018
U.S. locations
23
States / cities
Birmingham, Alabama • Phoenix, Arizona • San Francisco, California + 19 more
Conditions
Dravet Syndrome
Interventions
STK-001 - Single Ascending Doses, STK-001 - Multiple Ascending Doses
Drug
Lead sponsor
Stoke Therapeutics, Inc
Industry
Eligibility
2 Years to 18 Years
Enrollment
62 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2023
U.S. locations
18
States / cities
San Francisco, California • Aurora, Colorado • Washington D.C., District of Columbia + 15 more
Conditions
Dravet Syndrome
Interventions
zorevunersen, Sham Comparator
Drug · Other
Lead sponsor
Stoke Therapeutics, Inc
Industry
Eligibility
2 Years to 17 Years
Enrollment
170 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2028
U.S. locations
28
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 23 more
Conditions
West Syndrome
Interventions
adrenocorticotropin hormone
Drug
Lead sponsor
Ann & Robert H Lurie Children's Hospital of Chicago
Other
Eligibility
2 Months to 12 Months
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2011 – 2020
U.S. locations
1
States / cities
Chicago, Illinois
Conditions
KCNT1-Related Epilepsy
Interventions
No Intervention
Other
Lead sponsor
Biogen
Industry
Eligibility
0 Years to 50 Years
Enrollment
35 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2023
U.S. locations
1
States / cities
Rochester, New York
Conditions
Refractory Infantile Spasms
Interventions
JBPOS0101
Drug
Lead sponsor
Bio-Pharm Solutions Co., Ltd.
Industry
Eligibility
6 Months to 36 Months
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
17
States / cities
Little Rock, Arkansas • Los Angeles, California • San Francisco, California + 13 more
Conditions
CDKL5 Deficiency Disorder, Generalized Tonic Clonic Seizure, Epileptic Spasm, Refractory Seizures
Interventions
Fenfluramine, Placebo
Drug
Lead sponsor
Zogenix, Inc.
Industry
Eligibility
1 Year to 35 Years
Enrollment
87 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
13
States / cities
Birmingham, Alabama • Los Angeles, California • San Francisco, California + 10 more
Conditions
Seizure in Participants With Tuberous Sclerosis Complex, Seizure in Participants With Dravet Syndrome, Seizure in Participants With Lennox-Gastaut Syndrome
Interventions
GWP42003-P
Drug
Lead sponsor
Jazz Pharmaceuticals
Industry
Eligibility
1 Month to 23 Months
Enrollment
3 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
6
States / cities
Little Rock, Arkansas • Los Angeles, California • Chicago, Illinois + 3 more