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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: Developmental and Epileptic Encephalopathy
Interventions: gene therapy; Drug
Lead sponsor: Capsida Biotherapeutics, Inc.; Industry
Eligibility: 18 Months to 7 Years
Enrollment: 12 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 4
States / cities: Aurora, Colorado • New York, New York • Philadelphia, Pennsylvania + 1 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: 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: 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: 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/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: 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: 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: 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: 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: Epileptic Encephalopathy
Interventions: S230815- Starting dose A, S230815- Dose B, S230815- Dose C, S230815- Dose D; Drug
Lead sponsor: Institut de Recherches Internationales Servier; Other
Eligibility: 2 Years to 12 Years
Enrollment: 20 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 6
States / cities: Orange, California • Boston, Massachusetts • Rochester, New York + 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: 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: 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: 9
States / cities: Little Rock, Arkansas • Los Angeles, California • Gulf Breeze, Florida + 6 more

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: Developmental and Epileptic Encephalopathy
Interventions: LP352, Placebo; Drug
Lead sponsor: Longboard Pharmaceuticals; Industry
Eligibility: 2 Years to 65 Years
Enrollment: 320 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2026
U.S. locations: 30
States / cities: Little Rock, Arkansas • Los Angeles, California • Palo Alto, California + 23 more

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 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: 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: Developmental and Epileptic Encephalopathy, Dravet Syndrome, Lennox-Gastaut Syndrome
Interventions: LP352, bexicaserin; Drug
Lead sponsor: Longboard Pharmaceuticals; Industry
Eligibility: 12 Years to 65 Years
Enrollment: 41 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2024
U.S. locations: 25
States / cities: Little Rock, Arkansas • Downey, California • San Francisco, California + 20 more

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 Dysphasia, Epileptic Encephalopathy, Childhood-Onset, X-Linked Intellectual Disability
Interventions: Not listed
Lead sponsor: University of California, San Francisco; Other
Eligibility: 6 Years to 21 Years
Enrollment: 15 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2025
U.S. locations: 1
States / cities: San Francisco, California

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

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Natural History Study of Infants and Children With Developmental and Epileptic Encephalopathies

A Clinical Trial of CAP-002 Gene Therapy in Pediatric Patients With Syntaxin-Binding Protein 1 (STXBP1) Encephalopathy

Outcomes Mandate National Integration With Cannabis as Medicine

Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies

Neonatal Seizure Registry - Developmental Functional EValuation

A Clinical Trial of PRAX-562 in Subjects With Developmental and Epileptic Encephalopathies (DEE)

Study of TAK-935 as an Adjunctive Therapy in Participants With Developmental and/or Epileptic Encephalopathies

Extension Study to Evaluate How Safe and Tolerable NBI-921352 is as an Adjunctive Therapy for Participants With SCN8A-DEE

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

Intermediate-Size Expanded Access Protocol (EAP) for LP352

An Open-Label Extension of the Study XEN496 (Ezogabine) in Children With KCNQ2-DEE

A First-in-human Study of S230815 in Pediatric Participants With KCNT1-related Developmental and Epileptic Encephalopathy

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Study to Investigate LP352 in Subjects With Developmental and Epileptic Encephalopathies

A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathy (DEE)

Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness

A Study to Investigate LP352 in Children and Adults With Developmental and Epileptic Encephalopathies (DEE)

A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants With Developmental and/or Epileptic Encephalopathies

A Clinical Trial for Participants With DEE to Assess Efficacy, Safety, Tolerability, and PK of Relutrigine

A Prospective, Remote Observational Study in Pediatric Participants With Early-Onset SCN2A-Developmental and Epileptic Encephalopathy

Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy

Study to Evaluate NBI-921352 as Adjunctive Therapy in Subjects With SCN8A Developmental and Epileptic Encephalopathy Syndrome (SCN8A-DEE)

CNKSR2 Natural History Study

Palliative Care Needs of Children With Rare Diseases and Their Families