- Conditions
- Developmental and Epileptic Encephalopathies, Epileptic Spasms, Genetic Epilepsy, Neonatal and Infant Epilepsy
- Interventions
- Ketogenic diet
- Drug
- Lead sponsor
- Heather Olson
- Other
- Eligibility
- 0 Days to 9 Months
- Enrollment
- 10 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2028
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
Search Results
Search by objective public record fields.
Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results come from ClinicalTrials.gov. When the live registry is unavailable, a clearly labeled stored copy may be shown.
These results were retrieved from the live ClinicalTrials.gov registry. Filters and sort order apply to this result list.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Showing 25–48
of 64
matching trials from the live ClinicalTrials.gov search.
- Conditions
- Developmental and Epileptic Encephalopathy
- Interventions
- LP352
- Drug
- Lead sponsor
- Longboard Pharmaceuticals
- Industry
- Eligibility
- 2 Years to 66 Years
- Enrollment
- 324 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2027
- U.S. locations
- 20
- States / cities
- Little Rock, Arkansas • Los Angeles, California • Palo Alto, California + 16 more
- Conditions
- SCN2A Encephalopathy, SCN8A Encephalopathy
- Interventions
- PRAX-562
- Drug
- Lead sponsor
- Praxis Precision Medicines
- Industry
- Eligibility
- 1 Year to 18 Years
- Enrollment
- 77 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2027
- U.S. locations
- 4
- States / cities
- Atlanta, Georgia • Chicago, Illinois • Minneapolis, Minnesota + 1 more
- Conditions
- Developmental and Epileptic Encephalopathy
- Interventions
- LP352, Placebo
- Drug
- Lead sponsor
- Longboard Pharmaceuticals
- Industry
- Eligibility
- 2 Years to 65 Years
- Enrollment
- 367 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2026
- U.S. locations
- 31
- States / cities
- Little Rock, Arkansas • Los Angeles, California • Palo Alto, California + 23 more
- Conditions
- Epileptic Encephalopathy, Continuous Spike and Wave During Sleep
- Interventions
- NBI-827104
- Drug
- Lead sponsor
- Neurocrine Biosciences
- Industry
- Eligibility
- 4 Years to 12 Years
- Enrollment
- 19 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2025
- U.S. locations
- 7
- States / cities
- Orange, California • Aurora, Colorado • Washington D.C., District of Columbia + 4 more
- Conditions
- SCN8A Developmental and Epileptic Encephalopathy Syndrome
- Interventions
- NBI-921352
- Drug
- Lead sponsor
- Neurocrine Biosciences
- Industry
- Eligibility
- 2 Years to 22 Years
- Enrollment
- 8 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2025
- U.S. locations
- 4
- States / cities
- San Francisco, California • Washington D.C., District of Columbia • Rochester, New York + 1 more
- Conditions
- Neonatal Seizure, Hypoxic-Ischemic Encephalopathy, Stroke, Intracranial Hemorrhage, Epilepsy, Gene Abnormality
- Interventions
- Not listed
- Lead sponsor
- University of California, San Francisco
- Other
- Eligibility
- Not listed
- Enrollment
- 300 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2027
- U.S. locations
- 8
- States / cities
- San Francisco, California • Washington D.C., District of Columbia • Boston, Massachusetts + 4 more
- Conditions
- SCN2A-DEE, Epilepsy
- Interventions
- Not listed
- Lead sponsor
- Praxis Precision Medicines
- Industry
- Eligibility
- 1 Year to 16 Years
- Enrollment
- 5 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2023
- U.S. locations
- 1
- States / cities
- Atlanta, Georgia
- Conditions
- Nonconvulsive Status Epilepticus, Subclinical Seizure, Altered Mental Status, Nonepileptic Seizures, Encephalopathy
- Interventions
- EEG Cap, Anti-seizure medication, Standard EEG
- Device · Drug · Procedure
- Lead sponsor
- Mayo Clinic
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 20 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2018
- U.S. locations
- 1
- States / cities
- Jacksonville, Florida
- Conditions
- Dravet Syndrome, Lennox Gastaut Syndrome, Epileptic Encephalopathy
- Interventions
- ZX008 (Fenfluramine Hydrochloride)
- Drug
- Lead sponsor
- Zogenix, Inc.
- Industry
- Eligibility
- 2 Years and older
- Enrollment
- 412 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2025
- U.S. locations
- 26
- States / cities
- Tucson, Arizona • Los Angeles, California • San Diego, California + 23 more
- Conditions
- Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia, Asparagine Synthetase Deficiency, CHARGE Syndrome, Early Infantile Epileptic Encephalopathy, FOXG1 Syndrome, KBG Syndrome, Noonan Syndrome, Severe Hemophilia A, Short Bowel Syndrome, Beta-Propeller Protein-Associated Neurodegeneration, Brain Injury of Prematurity With Periventricular Leukomalacia, Chromosome 17p13.3 Microdeletion Syndrome, Chromosome 1q43-1q44 Deletion, Cockayne Syndrome, Congenital Diaphragmatic Hernia, End-Stage Renal Disease With Cloacal Anomaly, Mitochondrial Depletion Disorder, Severe Factor VII Deficiency
- Interventions
- Family Centered pediatric palliative care for family caregivers of children with rare diseases.
- Behavioral
- Lead sponsor
- Children's National Research Institute
- Other
- Eligibility
- 12 Months to 99 Years
- Enrollment
- 480 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2025 – 2029
- U.S. locations
- 1
- States / cities
- Washington D.C., District of Columbia
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy, Hyperinsulinemic Hypoglycemia, Familial 1, Diabetes Mellitus, Adrenoleukodystrophy, Neonatal, Medium-chain Acyl-CoA Dehydrogenase Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Beta-ketothiolase Deficiency, Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency, Primary Hyperoxaluria Type 1, Congenital Bile Acid Synthesis Defect Type 2, Pyridoxine-Dependent Epilepsy, Hereditary Fructose Intolerance, Hypophosphatasia, Hyperargininemia, Mucopolysaccharidosis Type 6, Argininosuccinic Aciduria, Citrullinemia, Type I, Wilson Disease, Maple Syrup Urine Disease, Type 1A, Maple Syrup Urine Disease, Type 1B, Biotinidase Deficiency, Neonatal Severe Primary Hyperparathyroidism, Intrinsic Factor Deficiency, Usher Syndrome Type 1D/F Digenic (Diagnosis), Cystic Fibrosis, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Alport Syndrome, Autosomal Recessive, Alport Syndrome, X-Linked, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carnitine Palmitoyl Transferase 1A Deficiency, Carnitine Palmitoyltransferase II Deficiency, Cystinosis, Chronic Granulomatous Disease, Cerebrotendinous Xanthomatoses, Maple Syrup Urine Disease, Type 2, Severe Combined Immunodeficiency Due to DCLRE1C Deficiency, Thyroid Dyshormonogenesis 6, Thyroid Dyshormonogenesis 5, Supravalvar Aortic Stenosis, Factor X Deficiency, Hemophilia A, Hemophilia B, Tyrosinemia, Type I, Fructose 1,6 Bisphosphatase Deficiency, Glycogen Storage Disease Type I, G6PD Deficiency, Glycogen Storage Disease II, Galactokinase Deficiency, Mucopolysaccharidosis Type IV A, Galactosemias, Guanidinoacetate Methyltransferase Deficiency, Agat Deficiency, Glutaryl-CoA Dehydrogenase Deficiency, Gtp Cyclohydrolase I Deficiency, Hyperinsulinism-Hyperammonemia Syndrome, Primary Hyperoxaluria Type 2, 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Mitochondrial Trifunctional Protein Deficiency, Sickle Cell Disease, Beta-Thalassemia, Holocarboxylase Synthetase Deficiency, 3-Hydroxy-3-Methylglutaric Aciduria, Primary Hyperoxaluria Type 3, Hermansky-Pudlak Syndrome 1, Hermansky-Pudlak Syndrome 4, Apparent Mineralocorticoid Excess, HSDB, CBAS1, Mucopolysaccharidosis Type 2, Mucopolysaccharidosis Type 1, Severe Combined Immunodeficiency, X Linked, Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency, Diabetes Mellitus, Permanent Neonatal, Isovaleric Acidemia, Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder), Jervell and Lange-Nielsen Syndrome 2, Hyperinsulinemic Hypoglycemia, Familial, 2, Diabetes Mellitus, Permanent Neonatal, With Neurologic Features, Jervell and Lange-Nielsen Syndrome 1, Lysosomal Acid Lipase Deficiency, CblF, 3-Methylcrotonyl CoA Carboxylase 1 Deficiency, 3-Methylcrotonyl CoA Carboxylase 2 Deficiency, Waardenburg Syndrome Type 2A, Methylmalonic Aciduria cblA Type, Methylmalonic Aciduria cblB Type, Methylmalonic Aciduria and Homocystinuria Type cblC, MAHCD, Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency, Congenital Disorder of Glycosylation Type 1B, Mthfr Deficiency, Methylcobalamin Deficiency Type Cbl G (Disorder), Methylcobalamin Deficiency Type cblE, Usher Syndrome, Type 1B, N-acetylglutamate Synthase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylketonurias, Waardenburg Syndrome Type 1, Congenital Hypothyroidism, Propionic Acidemia, Usher Syndrome, Type 1F, Pancreatic Agenesis 1, Hereditary Hypophosphatemic Rickets, Glycogen Storage Disease IXB, Glycogen Storage Disease IXC, MOWS, Epilepsy, Early-Onset, Vitamin B6-Dependent, Pyridoxal Phosphate-Responsive Seizures, Pituitary Hormone Deficiency, Combined, 1, Ptsd, Dihydropteridine Reductase Deficiency, Severe Combined Immunodeficiency Due to RAG1 Deficiency, Severe Combined Immunodeficiency Due to RAG2 Deficiency, Retinoblastoma, Multiple Endocrine Neoplasia Type 2B, Pseudohypoaldosteronism, Type I, Liddle Syndrome, Biotin-Responsive Basal Ganglia Disease, SCD, DIAR1, GSD1C, Acrodermatitis Enteropathica, Thyroid Dyshormonogenesis 1, Riboflavin Transporter Deficiency, Waardenburg Syndrome, Type 2E, SRD, Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency, Barth Syndrome, Adrenocorticotropic Hormone Deficiency, Transcobalamin II Deficiency, Thyroid Dyshormonogenesis 3, Segawa Syndrome, Autosomal Recessive, Autosomal Recessive Nonsyndromic Hearing Loss, Thyroid Dyshormonogenesis 2A, Congenital Isolated Thyroid Stimulating Hormone Deficiency, Hypothyroidism Due to TSH Receptor Mutations, Usher Syndrome Type 1C, Usher Syndrome Type 1G (Diagnosis), Von Willebrand Disease, Type 3, Combined Immunodeficiency Due to ZAP70 Deficiency, Adenine Phosphoribosyltransferase Deficiency, Metachromatic Leukodystrophy, Canavan Disease, Menkes Disease, Carbonic Anhydrase VA Deficiency, Developmental and Epileptic Encephalopathy 2, 17 Alpha-Hydroxylase Deficiency, Smith-Lemli-Opitz Syndrome, Krabbe Disease, Glutathione Synthetase Deficiency, Mucopolysaccharidosis Type 7, Rett Syndrome, Molybdenum Cofactor Deficiency, Type A, Niemann-Pick Disease, Type C1, Niemann-Pick Disease Type C2, Ornithine Aminotransferase Deficiency, 3-Phosphoglycerate Dehydrogenase Deficiency, Leber Congenital Amaurosis 2, Dravet Syndrome, Mucopolysaccharidosis Type 3 A, Ornithine Translocase Deficiency, Carnitine-acylcarnitine Translocase Deficiency, Glucose Transporter Type 1 Deficiency Syndrome, Creatine Transporter Deficiency, Niemann-Pick Disease Type A, Pitt Hopkins Syndrome, Tuberous Sclerosis 1, Tuberous Sclerosis 2, Ataxia With Isolated Vitamin E Deficiency, Angelman Syndrome, Prader-Willi Syndrome, Homocystinuria, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes Mellitus, Factor VII Deficiency, Glycogen Storage Disease Type IXA1, Glycogen Storage Disease, Type IXA2, Glycogen Storage Disease IC, Glycogen Storage Disease Type IB, Central Hypoventilation Syndrome With or Without Hirschsprung Disease
- Interventions
- Confirmatory Testing
- Diagnostic Test
- Lead sponsor
- RTI International
- Other
- Eligibility
- 1 Day to 31 Days
- Enrollment
- 30,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2018 – 2026
- U.S. locations
- 1
- States / cities
- Research Triangle Park, North Carolina
- Conditions
- Dravet Syndrome
- Interventions
- ZX008 (Fenfluramine Hydrochloride)
- Drug
- Lead sponsor
- Zogenix International Limited, Inc., a subsidiary of Zogenix, Inc.
- Industry
- Eligibility
- 2 Years to 35 Years
- Enrollment
- 5 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2018
- U.S. locations
- 2
- States / cities
- San Francisco, California • Aurora, Colorado
- Conditions
- MEF2C, DEE
- Interventions
- Observation
- Other
- Lead sponsor
- Weill Medical College of Cornell University
- Other
- Eligibility
- Not listed
- Enrollment
- 22,068 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2037
- U.S. locations
- 1
- States / cities
- New York, New York
- Conditions
- Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes, Deletion and Duplication of Mitochondrial DNA
- Interventions
- Not listed
- Lead sponsor
- Columbia University
- Other
- Eligibility
- Not listed
- Enrollment
- 1,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2011 – 2026
- U.S. locations
- 16
- States / cities
- San Diego, California • Stanford, California • Aurora, Colorado + 12 more
- Conditions
- SLC13A5 Citrate Transporter Disorder
- Interventions
- TSHA-105
- Drug
- Lead sponsor
- TESS Research Foundation
- Other
- Eligibility
- 2 Years to 20 Years
- Enrollment
- 8 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2026 – 2031
- U.S. locations
- 1
- States / cities
- Dallas, Texas
- Conditions
- Dravet Syndrome
- Interventions
- No Intervention
- Other
- Lead sponsor
- Encoded Therapeutics
- Industry
- Eligibility
- 6 Months to 60 Months
- Enrollment
- 58 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2023
- U.S. locations
- 12
- States / cities
- Los Angeles, California • San Francisco, California • Aurora, Colorado + 9 more
- Conditions
- Encephalopathy, Birth Defect, Intellectual Disability, Multiple Congenital Anomaly, Metabolic Disease, Epilepsy, Neuro-Degenerative Disease, Cerebral Palsy, Developmental Delay, Developmental Defect
- Interventions
- Whole Exome Sequencing
- Diagnostic Test
- Lead sponsor
- University of California, San Francisco
- Other
- Eligibility
- Up to 25 Years
- Enrollment
- 529 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2022
- U.S. locations
- 4
- States / cities
- Fresno, California • Oakland, California • San Francisco, California
- 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
- Epilepsy in Children, Dyskinesias, Movement Disorders in Children, Neurologic Disorder, Chorea, Myoclonus, Ataxia, Epilepsy, Dystonia Disorder, Movement Disorders
- Interventions
- Not listed
- Lead sponsor
- Boston Children's Hospital
- Other
- Eligibility
- 0 Years to 18 Years
- Enrollment
- 500 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2029
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- 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
- Epilepsy, Epilepsy in Children, Epilepsy; Seizure, Disease, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Epileptic Syndromes
- Interventions
- XEN496, Placebo
- Drug
- Lead sponsor
- Xenon Pharmaceuticals Inc.
- Industry
- Eligibility
- 1 Month to 6 Years
- Enrollment
- 8 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2023
- U.S. locations
- 11
- States / cities
- Orange, California • San Francisco, California • Aurora, Colorado + 8 more
- Conditions
- Dravet Syndrome
- Interventions
- ETX101
- Drug
- Lead sponsor
- Encoded Therapeutics
- Industry
- Eligibility
- 6 Months to 17 Years
- Enrollment
- 47 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2033
- U.S. locations
- 11
- States / cities
- San Francisco, California • Aurora, Colorado • Miami, Florida + 8 more
- Conditions
- Epileptic Encephalopathy, Continuous Spike and Wave During Sleep
- Interventions
- NBI-827104, Placebo
- Drug
- Lead sponsor
- Neurocrine Biosciences
- Industry
- Eligibility
- 4 Years to 12 Years
- Enrollment
- 24 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2022
- U.S. locations
- 8
- States / cities
- Orange, California • Aurora, Colorado • Washington D.C., District of Columbia + 5 more