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Showing 1–24 of 79 matching trials from the live ClinicalTrials.gov search.
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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
Tuberous Sclerosis Complex, Seizures
Interventions
GWP42003-P
Drug
Lead sponsor
Jazz Pharmaceuticals
Industry
Eligibility
1 Year to 65 Years
Enrollment
199 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2021
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Perinatal Death, Respiratory Distress Syndrome, Newborn, Hypoxic-Ischemic Encephalopathy, Neonatal Seizure, Meconium Aspiration Syndrome, Intracranial Hemorrhages, Neonatal Hypotension
Interventions
Room air
Other
Lead sponsor
Loma Linda University
Other
Eligibility
18 Years to 55 Years · Female only
Healthy volunteers
Accepts healthy volunteers
Timeline
2021 – 2022
U.S. locations
1
States / cities
Loma Linda, California
Conditions
Complex Partial Seizures
Interventions
vigabatrin
Drug
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Conditions
Neonatal Seizure, Hypoxic-Ischemic Encephalopathy, Stroke, Intracranial Hemorrhages, Epilepsy, Cerebral Palsy, Intellectual Disability
Interventions
Not listed
Lead sponsor
University of California, San Francisco
Other
Eligibility
2 Years to 8 Years
Enrollment
188 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2025
U.S. locations
9
States / cities
San Francisco, California • Stanford, California • Washington D.C., District of Columbia + 5 more
Conditions
Tuberous Sclerosis Complex
Interventions
everolimus
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
2 Years to 65 Years
Enrollment
206 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2027
U.S. locations
14
States / cities
Phoenix, Arizona • Los Angeles, California • Oakland, California + 11 more
Completed Phase 1Phase 2 Interventional Results available

Dosing of Levetiracetam (Keppra) in Neonates

NCT01239212
Conditions
Seizures
Interventions
levetiracetam
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
1 Day to 30 Days
Enrollment
7 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2011
U.S. locations
1
States / cities
Cincinnati, Ohio
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
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 Phase 2 Interventional

RNS System LGS Feasibility Study

NCT05339126
Conditions
Epilepsy, Lennox Gastaut Syndrome, Lennox-Gastaut Syndrome, Intractable, Seizures, Seizures, Generalized
Interventions
RNS System
Device
Lead sponsor
NeuroPace
Industry
Eligibility
12 Years and older
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2026
U.S. locations
6
States / cities
Birmingham, Alabama • San Francisco, California • Atlanta, Georgia + 2 more
Conditions
Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia, Inborn Errors of Metabolism, Movement Disorders, Genetic Disease, Development Delay, Chromosome Abnormality, Hearing Loss, Dysmorphic Features, Skeletal Dysplasia, Congenital Abnormality, Microcephaly, Macrocephaly
Interventions
Pre-visit prep, usual care + exome seq
Behavioral · Diagnostic Test
Lead sponsor
University of North Carolina, Chapel Hill
Other
Eligibility
0 Years and older
Enrollment
548 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2024
U.S. locations
3
States / cities
Asheville, North Carolina • Chapel Hill, North Carolina • Greenville, North Carolina
Conditions
Electroencephalographic Neonatal Seizures, Epilepsy
Interventions
Lacosamide intravenous, Lacosamide oral, Active Comparator
Drug · Other
Lead sponsor
UCB Biopharma SRL
Industry
Eligibility
Up to 28 Days
Enrollment
29 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
15
States / cities
La Jolla, California • Long Beach, California • Los Angeles, California + 11 more
Conditions
Colorectal Cancer
Interventions
Fecal immunochemical test
Other
Lead sponsor
University of Chicago
Other
Eligibility
20 Years to 80 Years
Enrollment
400 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2025 – 2029
U.S. locations
3
States / cities
Chicago, Illinois • Ann Arbor, Michigan • New York, New York
Conditions
Seizures, Lennox Gastaut Syndrome
Interventions
Carisbamate
Drug
Lead sponsor
SK Life Science, Inc.
Industry
Eligibility
4 Years to 55 Years
Enrollment
252 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2028
U.S. locations
22
States / cities
Palo Alto, California • Jacksonville, Florida • Orlando, Florida + 18 more
Conditions
Tuberous Sclerosis Complex Associated Neuropsychiatric Disease
Interventions
Cannabidiol Oral Solution [Epidiolex]
Drug
Lead sponsor
Jazz Pharmaceuticals
Industry
Eligibility
1 Year to 65 Years
Enrollment
79 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
12
States / cities
Aurora, Colorado • New Haven, Connecticut • Gainesville, Florida + 9 more
Active, not recruiting No phase listed Observational

ADH1 and ADH2 Disease Monitoring Study (DMS)

NCT05227287
Conditions
Autosomal Dominant Hypocalcemia
Interventions
Not listed
Lead sponsor
Calcilytix Therapeutics, Inc., a BridgeBio company
Industry
Eligibility
Up to 90 Years
Enrollment
95 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2028
U.S. locations
9
States / cities
Oakland, California • Aurora, Colorado • Jacksonville, Florida + 6 more
Conditions
Urea Cycle Disorders, Organic Acidemias
Interventions
Therapeutic Hypothermia, Standard of Care Therapy
Other
Lead sponsor
Uta Lichter-Konecki
Other
Eligibility
1 Day to 30 Days
Enrollment
5 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2007 – 2015
U.S. locations
3
States / cities
Washington D.C., District of Columbia • New York, New York • Milwaukee, Wisconsin
Enrolling by invitation No phase listed Observational

SLC13A5 Deficiency Natural History Study - Remote Only

NCT04681781
Conditions
Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders, Genetic Disorder, SLC13A5 Deficiency, EIEE25, Kohlschutter-Tonz Syndrome (non-ROGDI), 17p13.1 Deletions Confined to SLC13A5 Gene, Citrate Transporter Disorder
Interventions
Not listed
Lead sponsor
TESS Research Foundation
Other
Eligibility
Not listed
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
1
States / cities
Palo Alto, California
Conditions
Apnea, Bradycardia, Premature Birth, Seizures
Interventions
microEEG
Device
Lead sponsor
Bio-Signal Group Corp.
Industry
Eligibility
Up to 30 Days
Enrollment
50 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
2
States / cities
Brooklyn, New York
Conditions
Citrate Transporter Deficiency, Epilepsy, Rare Diseases, Movement Disorders, Genetic Disorder, SLC13A5 Deficiency, EIEE25, Kohlschutter-Tonz Syndrome (Non-ROGDI), Citrate Transporter Disorder, DEE25
Interventions
Not listed
Lead sponsor
TESS Research Foundation
Other
Eligibility
Not listed
Enrollment
17 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2025
U.S. locations
3
States / cities
Palo Alto, California • Providence, Rhode Island • Dallas, Texas
Conditions
Seizure Disorder, Hypogonadism, Erectile Dysfunction
Interventions
Anastrozole 1mg, Placebo Oral Tablet
Drug
Lead sponsor
Beth Israel Deaconess Medical Center
Other
Eligibility
18 Years to 50 Years · Male only
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2001 – 2008
U.S. locations
1
States / cities
Boston, Massachusetts
Conditions
Tuberous Sclerosis Complex
Interventions
Not listed
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
1 Day to 6 Months
Enrollment
40 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2018
U.S. locations
5
States / cities
Birmingham, Alabama • Los Angeles, California • Boston, Massachusetts + 2 more
Completed Phase 1Phase 2 Interventional Results available

Efficacy of Intravenous Levetiracetam in Neonatal Seizures

NCT01720667
Conditions
Neonatal Seizures
Interventions
Intravenous levetiracetam, Intravenous phenobarbital
Drug
Lead sponsor
Richard H. Haas
Other
Eligibility
15 Minutes to 14 Days
Enrollment
280 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2019
U.S. locations
1
States / cities
San Diego, California
Recruiting No phase listed Observational

ESIS in Pediatric DRE

NCT05469373
Conditions
Epilepsy
Interventions
Not listed
Lead sponsor
Sarah Katie Ihnen
Other
Eligibility
1 Year to 30 Years
Enrollment
86 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2027
U.S. locations
1
States / cities
Cincinnati, Ohio