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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, POMGNT1, 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, 2q34 Duplication, 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
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

Conditions: Adenovirus, Anesthesia, Anxiety, Anxiolysis, Autism, Autistic Disorder, Bacterial Meningitis, Bacterial Septicemia, Benzodiazepine, Bipolar Disorder, Bone and Joint Infections, Central Nervous System Infections, Convulsions, Cytomegalovirus Retinitis, Early-onset Schizophrenia Spectrum Disorders, Epilepsy, General Anesthesia, Gynecologic Infections, Herpes Simplex Virus, Infantile Hemangioma, Infection, Inflammation, Inflammatory Conditions, Intra-abdominal Infections, Lower Respiratory Tract Infections, Migraines, Pain, Pneumonia, Schizophrenia, Sedation, Seizures, Skeletal Muscle Spasms, Skin and Skin-structure Infections, Treatment-resistant Schizophrenia, Urinary Tract Infections, Withdrawal, Sepsis, Gram-negative Infection, Bradycardia, Cardiac Arrest, Cardiac Arrhythmia, Staphylococcal Infections, Nosocomial Pneumonia, Neuromuscular Blockade, Methicillin Resistant Staphylococcus Aureus, Endocarditis, Neutropenia, Headache, Fibrinolytic Bleeding, Pulmonary Arterial Hypertension, CMV Retinitis, Hypertension, Chronic Kidney Diseases, Hyperaldosteronism, Hypokalemia, Heart Failure, Hemophilia, Heavy Menstrual Bleeding, Insomnia
Interventions: The POPS study is collecting PK data on children prescribed the following drugs of interest per standard of care:; Drug
Lead sponsor: Daniel Benjamin; Other
Eligibility: Up to 21 Years
Enrollment: 3,520 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2019
U.S. locations: 43
States / cities: Anchorage, Alaska • Little Rock, Arkansas • La Jolla, California + 37 more

Conditions: Spasms, Infantile
Interventions: Cannabidiol Oral Solution; Drug
Lead sponsor: INSYS Therapeutics Inc; Industry
Eligibility: 6 Months to 36 Months
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016
U.S. locations: 4
States / cities: Los Angeles, California • San Francisco, California • Miami, Florida + 1 more

Conditions: STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder, Developmental and Epileptic Encephalopathy
Interventions: Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]; Drug
Lead sponsor: Weill Medical College of Cornell University; Other
Eligibility: 0 Months to 17 Years
Enrollment: 50 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2026
U.S. locations: 2
States / cities: Aurora, Colorado • New York, New York

Conditions: Infantile Spasm
Interventions: Fenfluramine; Drug
Lead sponsor: Children's Hospital of Orange County; Other
Eligibility: 12 Months to 36 Months
Enrollment: 10 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2026
U.S. locations: 2
States / cities: Los Angeles, California • Orange, California

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: 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: Spasms, Infantile
Interventions: AMZ002 injectable solution, 0.5mg/mL, Vigabatrin, oral; Drug
Lead sponsor: Amzell; Industry
Eligibility: 2 Months to 24 Months
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2025
U.S. locations: 12
States / cities: Aurora, Colorado • Miami, Florida • Orlando, Florida + 8 more

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: Infantile Spasms
Interventions: ACTH; Drug
Lead sponsor: Wayne State University; Other
Eligibility: Not listed
Enrollment: 8 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2017
U.S. locations: 1
States / cities: Detroit, Michigan

Conditions: Infantile Spasms
Interventions: GWP42003-P; Drug
Lead sponsor: Jazz Pharmaceuticals; Industry
Eligibility: 1 Month to 24 Months
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2018
U.S. locations: 6
States / cities: Little Rock, Arkansas • Winston-Salem, North Carolina • Columbus, Ohio + 3 more

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Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

STXBP1 and SYNGAP1 Related Disorders Natural History Study

Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care

Cannabidiol Oral Solution for Treatment of Refractory Infantile Spasms

Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy

Treatment of Refractory Infantile Spasms With Fenfluramine

Open-label Extension to Protocol 1042-0500

A Double-blind Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen in Patients With Dravet Syndrome

A Study to Evaluate Safety and Efficacy of AMZ002 Treatment, Compared With Vigabatrin in Participants With Infantile Spasms

A Natural History Study of Participants With Potassium Sodium-Activated Channel Subfamily T Member 1 (KCNT1)-Related Epilepsy

Evaluation of Neuroinflammation in Children With Infantile Spasms

Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms (GWPCARE7)