- 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
Search Results
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Showing 1–24
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- Conditions
- SCN8A Developmental and Epileptic Encephalopathy Syndrome
- Interventions
- NBI-921352, Placebo
- Drug
- Lead sponsor
- Neurocrine Biosciences
- Industry
- Eligibility
- 2 Years to 21 Years
- Enrollment
- 8 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2023
- U.S. locations
- 4
- States / cities
- San Francisco, California • Washington D.C., District of Columbia • Rochester, New York + 1 more
- 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
- 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
- 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
- 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/or Epileptic Encephalopathies
- Interventions
- TAK-935, Placebo
- Drug
- Lead sponsor
- Takeda
- Industry
- Eligibility
- 18 Years to 65 Years
- Enrollment
- 18 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2018
- U.S. locations
- 11
- States / cities
- Phoenix, Arizona • Port Charlotte, Florida • Tampa, Florida + 8 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
- 19
- States / cities
- Little Rock, Arkansas • Los Angeles, California • Palo Alto, California + 15 more
- Conditions
- Developmental and Epileptic Encephalopathy 1
- Interventions
- 1.0mg/kg/day PRAX-562, 1.5mg/kg/day PRAX-562, Placebo
- Drug
- Lead sponsor
- Praxis Precision Medicines
- Industry
- Eligibility
- 2 Years to 65 Years
- Enrollment
- 160 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2027
- U.S. locations
- 6
- States / cities
- La Jolla, California • Gulf Breeze, Florida • Chevy Chase, Maryland + 3 more
- Conditions
- Epileptic Encephalopathy, SCN2A Encephalopathy
- Interventions
- 1mg elsunersen, 0.5mg elsunersen
- Drug
- Lead sponsor
- Praxis Precision Medicines
- Industry
- Eligibility
- 1 Day to 18 Years
- Enrollment
- 40 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2025 – 2028
- U.S. locations
- 6
- States / cities
- San Diego, California • Aurora, Colorado • Chicago, Illinois + 3 more
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of, IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11, APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency, HPRT1, OMIM *308000 Lesch-Nyhan Disease, XDH, OMIM *607633, Xanthinuria Type 1, SLC2A9, OMIM *606142 Hypouricemia, SLC22A12, OMIM *607096 Hypouricemia, PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease, PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity, AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia, ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35, ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency, PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency, ADA2, OMIM *607575,Sneddon Syndrome; VAIHS, CAD, *1140120, Developmental and Epileptic Encephalopathy, UPB1, OMIM *606673, Beta-ureidopropionase Deficiency, DPYS, OMIM *613326, Dihydropyrimidinase Deficiency, DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency, DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis), UMPS, OMIM *613891, Orotic Aciduria, NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency, UNG, OMIM *191525, Hyper-IgM Syndrome 5, AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2, Purine-Pyrimidine Metabolism, Metabolic Disease
- Interventions
- Not listed
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- NIH
- Eligibility
- 1 Month to 100 Years
- Enrollment
- 999 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2099
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- 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
- Dravet Syndrome
- Interventions
- LP352, Placebo
- Drug
- Lead sponsor
- Longboard Pharmaceuticals
- Industry
- Eligibility
- 2 Years to 65 Years
- Enrollment
- 160 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2026
- U.S. locations
- 24
- States / cities
- Little Rock, Arkansas • Los Angeles, California • Palo Alto, California + 20 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
- Chronic Pain, Chronic Pain Syndrome, Chronic Pain Due to Injury, Chronic Pain Due to Trauma, Fibromyalgia, Seizures, Hepatitis C, Cancer, Crohn Disease, HIV/AIDS, Multiple Sclerosis, Traumatic Brain Injury, Sickle Cell Disease, Post Traumatic Stress Disorder, Tourette Syndrome, Ulcerative Colitis, Glaucoma, Epilepsy, Inflammatory Bowel Diseases, Parkinson Disease, Amyotrophic Lateral Sclerosis, Chronic Traumatic Encephalopathy, Anxiety, Depression, Insomnia, Autism, Opioid-use Disorder, Bipolar Disorder, Covid19, SARS-CoV Infection, COVID-19, Corona Virus Infection, Coronavirus
- Interventions
- Cannabis, Medical, RYAH-Medtech Inhaler
- Drug · Device
- Lead sponsor
- OMNI Medical Services, LLC
- Network
- Eligibility
- 7 Years and older
- Enrollment
- 200,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2018 – 2025
- U.S. locations
- 17
- States / cities
- Boca Raton, Florida • Bradenton, Florida • Fort Lauderdale, Florida + 13 more
- Conditions
- Dravet Syndrome, Lennox Gastaut Syndrome, Developmental and Epileptic Encephalopathies
- Interventions
- LP352
- Drug
- Lead sponsor
- Longboard Pharmaceuticals
- Industry
- Eligibility
- 2 Years to 65 Years
- U.S. locations
- 19
- States / cities
- Downey, California • Los Angeles, California • San Francisco, California + 15 more
- Conditions
- Developmental and Epileptic Encephalopathy, Dravet Syndrome, Lennox Gastaut Syndrome
- Interventions
- LP352, Placebo
- Drug
- Lead sponsor
- Longboard Pharmaceuticals
- Industry
- Eligibility
- 12 Years to 65 Years
- Enrollment
- 52 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2023
- U.S. locations
- 29
- States / cities
- Tucson, Arizona • Little Rock, Arkansas • Downey, California + 24 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
- SCN2A-DEE, Epilepsy
- Interventions
- PRAX-222 - Initial Dose, PRAX-222 - Initial Ascending Doses, PRAX-222 - Optional Ascending Doses, PRAX-222 - Fixed Doses, Placebo
- Drug · Procedure
- Lead sponsor
- Praxis Precision Medicines
- Industry
- Eligibility
- 2 Years to 18 Years
- Enrollment
- 60 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2027
- U.S. locations
- 1
- States / cities
- Memphis, Tennessee
- 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
- 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
- Epilepsy, Epilepsy in Children, Epilepsy; Seizure, Disease, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Epileptic Syndromes
- Interventions
- XEN496
- 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
- 2
- States / cities
- Philadelphia, Pennsylvania • Tacoma, Washington
- 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