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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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Conditions
Dravet Syndrome
Interventions
Transcranial Magnetic Stimulation (TMS), Electroencephalogram (EEG)
Device
Lead sponsor
Boston Children's Hospital
Other
Eligibility
6 Months to 30 Years
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2022
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Encephalomyopathies, MELAS, MERRF
Interventions
Promoting Resilience in Stress Management (PRISM), Clinical-focused narrative (CFN)
Behavioral
Lead sponsor
Children's Hospital of Philadelphia
Other
Eligibility
18 Years and older
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Epilepsy, Dravet Syndrome, Lennox-Gastaut Syndrome
Interventions
TAK-935, Placebo
Drug
Lead sponsor
Takeda
Industry
Eligibility
2 Years to 17 Years
Enrollment
141 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
15
States / cities
Phoenix, Arizona • Los Angeles, California • Aurora, Colorado + 12 more
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
Epilepsy
Interventions
Lacosamide
Drug
Lead sponsor
UCB BIOSCIENCES, Inc.
Industry
Eligibility
16 Years to 65 Years
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2012
U.S. locations
19
States / cities
Phoenix, Arizona • Little Rock, Arkansas • Aurora, Colorado + 16 more
Conditions
Myoclonus Epilepsies, Progressive
Interventions
AUT00201, Placebo
Drug
Lead sponsor
Autifony Therapeutics Limited
Industry
Eligibility
18 Years and older
Enrollment
6 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2024
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Dravet Syndrome (DS), Children Under 2 Years
Interventions
fenfluramine
Drug
Lead sponsor
University of Colorado, Denver
Other
Eligibility
12 Months to 24 Months
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2027
U.S. locations
1
States / cities
Aurora, Colorado
Conditions
Seizures
Interventions
Cannabidiol Oral Solution
Drug
Lead sponsor
INSYS Therapeutics Inc
Industry
Eligibility
1 Year to 18 Years
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2017
U.S. locations
11
States / cities
San Francisco, California • Miami, Florida • Pensacola, Florida + 8 more
Conditions
Dravet Syndrome
Interventions
ION337
Drug
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
2 Years to 12 Years
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
5
States / cities
Ann Arbor, Michigan • Rochester, Minnesota • Durham, North Carolina + 2 more
Recruiting No phase listed Observational Accepts healthy volunteers

GABA Biomarkers in Dravet Syndrome

NCT05651204
Conditions
Dravet Syndrome
Interventions
GABA Blood Level
Diagnostic Test
Lead sponsor
Cook Children's Health Care System
Other
Eligibility
Up to 18 Years
Enrollment
36 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2027
U.S. locations
1
States / cities
Fort Worth, Texas
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
Lafora Disease
Interventions
Not listed
Lead sponsor
Ionis Pharmaceuticals, Inc.
Industry
Eligibility
5 Years and older
Enrollment
33 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
2
States / cities
Los Angeles, California • Dallas, Texas
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Early Check: Expanded Screening in Newborns

NCT03655223
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
Generalized Epilepsy
Interventions
BHV-7000, Placebo
Drug
Lead sponsor
Biohaven Therapeutics Ltd.
Industry
Eligibility
18 Years to 75 Years
Enrollment
27 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
40
States / cities
Birmingham, Alabama • Phoenix, Arizona • Tucson, Arizona + 34 more
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
Not listed No phase listed Observational Accepts healthy volunteers

Dentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study

NCT06273150
Conditions
Dentatorubral-Pallidoluysian Atrophy
Interventions
Positive genetic test for pathological expansion in ATN1
Other
Lead sponsor
University College, London
Other
Eligibility
Not listed
Enrollment
225 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2022 – 2026
U.S. locations
2
States / cities
New York, New York • Chapel Hill, North Carolina
Conditions
Dravet Syndrome, Lennox Gastaut Syndrome
Interventions
ZX008 0.2 to 0.8 mg/kg/day, Cannabidiol
Drug
Lead sponsor
Zogenix International Limited, Inc., a subsidiary of Zogenix, Inc.
Industry
Eligibility
2 Years to 18 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
2
States / cities
Atlanta, Georgia • Tacoma, Washington
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
Dravet Syndrome
Interventions
fenfluramine
Drug
Lead sponsor
UCB BIOSCIENCES, Inc.
Industry
Eligibility
1 Year to 23 Months
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
3
States / cities
Memphis, Tennessee • Dallas, Texas • Seattle, Washington
Conditions
Dravet Syndrome
Interventions
Fenfluramine treatment (Fintepla), Hypercapnia Challenge using the device (RespirAct)
Drug · Device
Lead sponsor
The University of Texas Health Science Center, Houston
Other
Eligibility
16 Years and older
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2028
U.S. locations
1
States / cities
Houston, Texas
Conditions
Progressive Myoclonus Epilepsy Type 1, EPM1, CSTB-related Disease, Myoclonus Epilepsies, Progressive, Unverricht-Lundborg Disease, Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature, PME, Progressive Myoclonus-Epilepsies
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
Not listed
Enrollment
200 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2030
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Age-Related Macular Degeneration, Allergies, Alpha-Gal Syndrome, Alzheimer Disease, Amyloidosis, Ankylosing Spondylitis, Arthritis, Alopecia Areata, Asthma, Atopic Dermatitis, Autism, Autoimmune Hepatitis, Behcet's Disease, Beta-Thalassemia, Cancer, Celiac Disease, Kidney Diseases, COPD, Crohn Disease, Cystic Fibrosis, Diabetes, Dravet Syndrome, DMD, Fibromyalgia, Graves Disease, Thyroid Diseases, Hepatitis, Hidradenitis Suppurativa, ITP, Leukemia, ALS, Lupus or SLE, Lymphoma, Multiple Sclerosis, Myasthenia Gravis, Heart Diseases, Parkinson Disease, Pemphigus Vulgaris, Cirrhosis, Psoriasis, Schizophrenia, Scleroderma, Sickle Cell Disease, Stroke, Ulcerative Colitis, Vasculitis, Vitiligo
Interventions
Specimen sample
Diagnostic Test
Lead sponsor
Sanguine Biosciences
Industry
Eligibility
18 Years to 85 Years
Enrollment
20,000 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2025
U.S. locations
1
States / cities
Waltham, Massachusetts
Completed No phase listed Observational

Ketogenic Diet in Lafora Disease

NCT00007124
Conditions
Lafora Disease
Interventions
Not listed
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Eligibility
Not listed
Enrollment
15 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2000 – 2002
U.S. locations
1
States / cities
Bethesda, Maryland