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Conditions: Infantile Spasms, Non-Intractable
Interventions: Remote monitoring; Other
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 31 Days to 30 Months
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2019 – 2023
U.S. locations: 1
States / cities: Aurora, Colorado

Conditions: Neonatal Epilepsy, Infantile Epilepsy
Interventions: Genomic Sequencing; Genetic
Lead sponsor: Boston Children's Hospital; Other
Eligibility: Not listed
Enrollment: 600 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2029
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Dravet Syndrome
Interventions: zorevunersen (STK-001); Drug
Lead sponsor: Stoke Therapeutics, Inc; Industry
Eligibility: 30 Months and older
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2029
U.S. locations: 17
States / cities: San Francisco, California • Aurora, Colorado • Washington D.C., District of Columbia + 14 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: 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: Infantile Spasms
Interventions: GWP42003-P; Drug
Lead sponsor: Jazz Pharmaceuticals; Industry
Eligibility: 1 Month to 24 Months
Enrollment: 9 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2019
U.S. locations: 5
States / cities: Little Rock, Arkansas • Winston-Salem, North Carolina • Columbus, Ohio + 2 more

Conditions: West Syndrome
Interventions: adrenocorticotropin hormone; Drug
Lead sponsor: Ann & Robert H Lurie Children's Hospital of Chicago; Other
Eligibility: 2 Months to 12 Months
Enrollment: 28 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2011 – 2018
U.S. locations: 1
States / cities: Chicago, Illinois

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: Infantile Spasms, Infantile Epileptic Spasms Syndrome, West Syndrome
Interventions: Prednisolone, Famotidine, Placebo; Drug
Lead sponsor: University of California, Los Angeles; Other
Eligibility: 2 Months to 18 Months
Enrollment: 40 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 1
States / cities: Los Angeles, California

Conditions: Infantile Spasm
Interventions: Cannabidiol Oral Solution, Placebo, Vigabatrin; Drug
Lead sponsor: Radius Pharmaceuticals, Inc.; Industry
Eligibility: 1 Month to 24 Months
Enrollment: 2 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2019
U.S. locations: 5
States / cities: Miami, Florida • Royal Oak, Michigan • Akron, Ohio + 2 more

Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan and Epilepsy), Alpha-Dystroglycanopathy (Dystroglycanopathy, Congenital With or Without Mental Retardation (Formerly MDC1C)), Alpha-Dystroglycanopathy (Fukuyama CMD), Alpha-Dystroglycanopathy (LGMDR09 FKRP Related (Formerly LGMD2I)), Alpha-Dystroglycanopathy (LGMDR11 POMT1 Related (Formerly LGMD2K)), Alpha-Dystroglycanopathy (LGMDR13 FKTN Related (Formerly LGMD2M)), Alpha-Dystroglycanopathy (LGMDR14 POMT2 Related (Formerly LGMD2N)), Alpha-Dystroglycanopathy (LGMDR15 POMGnT1 Related (Formerly LGMD2O)), Alpha-Dystroglycanopathy (LGMDR19 GMPPB Related (Formerly LGMD2T)), Alpha-Dystroglycanopathy (LGMDR20 ISPD Related (Formerly LGMD2U)), Alpha-Dystroglycanopathy (LGMDR24 POMGnT2 Related), Alpha-Dystroglycanopathy (Muscle Eye Brain Disease (MEB)), Alpha-Dystroglycanopathy (Walker Warburg Syndrome (WWS)), Choline Kinase B Receptor - CHKB, Collagen VI Related Disorders, Collagen XII Related Disorders, Congenital Muscular Dystrophy Not Otherwise Specified (Including Merosin Positive), Congenital Muscular Dystrophy With Cataracts and Intellectual Disability (MDCCAID), Congenital Muscular Dystrophy With Joint Hyperlaxity, Congenital Muscular Dystrophy With Rigid Spine Related to ACTA1, Emery-Dreifuss Muscular Dystrophy, GOLGA2-related Congenital Muscle Dystrophy With Brain Involvement, LMNA Related Disorders, Merosin Deficient CMD (Full or Partial), Nesprin Related MD (SYNE1), SELENON Related Disorders (Previously Known as SEPN1), SELENON Related Myopathy (Aka SEPN1), Telethonin CMD, Congenital Myasthenic Syndrome, Limb-Girdle Muscular Dystrophy, LGMDD01 - DNAJB6 (Formerly LGMD1D), LGMDD05 - Collagen VI Related Bethlem Myopathy (Dominant), LGMDR07 - Telethonin (TCAP) Related (Formerly LGMD2G), LGMDR08 - TRIM Related (Formerly LGMD2H), LGMDR09 - FKRP Related (Formerly LGMD2I), LGMDR10 - Titin (TTN) Related (Formerly LGMD2J), LGMDR11 - POMT1 Related (Formerly LGMD2K), LGMDR13 - Fukutin (FKTN) Related (Formerly LGMD2M), LGMDR14 - POMT2 Related (Formerly LGMD2N), LGMDR15 - POMGnT1 Related (Formerly LGMD2O), LGMDR16 - DAG1 Related Dystroglycanopathy (Formerly LGMD2P), LGMDR17 - Plectin (PLEC) Related (Formerly LGMD2Q), LGMDR18 - TRAPPC11 Related (Formerly LGMD2S), LGMDR19 - GMPPB Related (Formerly LGMD2T), LGMDR20 - ISPD Related (Formerly LGMD2U), LGMDR22 - Collagen VI Related Bethlem Myopathy (Recessive), LGMDR23 - LAMA2 Related, LGMDR24 - POMGnT2 Related
Interventions: Not listed
Lead sponsor: Cure CMD; Other
Eligibility: Not listed
Enrollment: 4,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2029
U.S. locations: 1
States / cities: Lakewood, California

Conditions: Seizure in Participants With Tuberous Sclerosis Complex, Seizure in Participants With Dravet Syndrome, Seizure in Participants With Lennox-Gastaut Syndrome
Interventions: GWP42003-P; Drug
Lead sponsor: Jazz Pharmaceuticals; Industry
Eligibility: 1 Month to 23 Months
Enrollment: 3 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2025
U.S. locations: 6
States / cities: Little Rock, Arkansas • Los Angeles, California • Chicago, Illinois + 3 more

Conditions: Epilepsy, Localization-related Epilepsy, Infantile Spasms, Lennox-Gastaut Syndrome, Polymicrogyria, Periventricular Heterotopias
Interventions: Not listed
Lead sponsor: University of California, San Francisco; Other
Eligibility: 4 Weeks to 60 Years
Enrollment: 4,150 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2018
U.S. locations: 23
States / cities: Birmingham, Alabama • Phoenix, Arizona • San Francisco, California + 19 more

Conditions: Refractory Infantile Spasms
Interventions: JBPOS0101; Drug
Lead sponsor: Bio-Pharm Solutions Co., Ltd.; Industry
Eligibility: 6 Months to 36 Months
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2021
U.S. locations: 17
States / cities: Little Rock, Arkansas • Los Angeles, California • San Francisco, California + 13 more

Conditions: Generalized Epilepsy, Infantile Spasms, Metabolic Disease, Partial Epilepsy, Seizures
Interventions: 18 FDG; Drug
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: Not listed
Enrollment: 80 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1992 – 2004
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Dravet Syndrome
Interventions: STK-001 - Single Ascending Doses, STK-001 - Multiple Ascending Doses; Drug
Lead sponsor: Stoke Therapeutics, Inc; Industry
Eligibility: 2 Years to 18 Years
Enrollment: 62 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2023
U.S. locations: 18
States / cities: San Francisco, California • Aurora, Colorado • Washington D.C., District of Columbia + 15 more

Conditions: Infantile Spasms
Interventions: Spasm Vision; Device
Lead sponsor: Johns Hopkins University; Other
Eligibility: Up to 2 Years
Enrollment: 61 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2026
U.S. locations: 1
States / cities: Baltimore, Maryland

Conditions: Infantile Spasms
Interventions: Ganaxolone, Placebo; Drug · Other
Lead sponsor: Marinus Pharmaceuticals; Industry
Eligibility: 4 Months to 24 Months
Enrollment: 57 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2008
U.S. locations: 15
States / cities: Los Angeles, California • Washington D.C., District of Columbia • Miami, Florida + 10 more

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: CDKL5 Deficiency Disorder, Generalized Tonic Clonic Seizure, Epileptic Spasm, Refractory Seizures
Interventions: Fenfluramine, Placebo; Drug
Lead sponsor: Zogenix, Inc.; Industry
Eligibility: 1 Year to 35 Years
Enrollment: 87 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2022 – 2027
U.S. locations: 13
States / cities: Birmingham, Alabama • Los Angeles, California • San Francisco, California + 10 more

Conditions: Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome, Prenatal Benign Hypophosphatasia, Perinatal Lethal Hypophosphatasia, Odontohypophosphatasia, Adult Hypophosphatasia, Childhood-onset Hypophosphatasia, Infantile Hypophosphatasia, Hypophosphatasia, Kabuki Syndrome, Bohring-Opitz Syndrome, Narcolepsy Without Cataplexy, Narcolepsy-cataplexy, Hypersomnolence Disorder, Idiopathic Hypersomnia Without Long Sleep Time, Idiopathic Hypersomnia With Long Sleep Time, Idiopathic Hypersomnia, Kleine-Levin Syndrome, Kawasaki Disease, Leiomyosarcoma, Leiomyosarcoma of the Corpus Uteri, Leiomyosarcoma of the Cervix Uteri, Leiomyosarcoma of Small Intestine, Acquired Myasthenia Gravis, Addison Disease, Hyperacusis (Hyperacousis), Juvenile Myasthenia Gravis, Transient Neonatal Myasthenia Gravis, Williams Syndrome, Lyme Disease, Myasthenia Gravis, Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome), Isolated Klippel-Feil Syndrome, Frasier Syndrome, Denys-Drash Syndrome, Beckwith-Wiedemann Syndrome, Emanuel Syndrome, Isolated Aniridia, Axenfeld-Rieger Syndrome, Aniridia-intellectual Disability Syndrome, Aniridia - Renal Agenesis - Psychomotor Retardation, Aniridia - Ptosis - Intellectual Disability - Familial Obesity, Aniridia - Cerebellar Ataxia - Intellectual Disability, Aniridia - Absent Patella, Aniridia, Peters Anomaly - Cataract, Peters Anomaly, Potocki-Shaffer Syndrome, Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11, Silver-Russell Syndrome Due to Imprinting Defect of 11p15, Silver-Russell Syndrome Due to 11p15 Microduplication, Syndromic Aniridia, WAGR Syndrome, Wolf-Hirschhorn Syndrome, 4p16.3 Microduplication Syndrome, 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome, Autosomal Recessive Stickler Syndrome, Stickler Syndrome Type 2, Stickler Syndrome Type 1, Stickler Syndrome, Mucolipidosis Type 4, X-linked Spinocerebellar Ataxia Type 4, X-linked Spinocerebellar Ataxia Type 3, X-linked Intellectual Disability - Ataxia - Apraxia, X-linked Progressive Cerebellar Ataxia, X-linked Non Progressive Cerebellar Ataxia, X-linked Cerebellar Ataxia, Vitamin B12 Deficiency Ataxia, Toxic Exposure Ataxia, Unclassified Autosomal Dominant Spinocerebellar Ataxia, Thyroid Antibody Ataxia, Sporadic Adult-onset Ataxia of Unknown Etiology, Spinocerebellar Ataxia With Oculomotor Anomaly, Spinocerebellar Ataxia With Epilepsy, Spinocerebellar Ataxia With Axonal Neuropathy Type 2, Spinocerebellar Ataxia Type 8, Spinocerebellar Ataxia Type 7, Spinocerebellar Ataxia Type 6, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 37, Spinocerebellar Ataxia Type 36, Spinocerebellar Ataxia Type 35, Spinocerebellar Ataxia Type 34, Spinocerebellar Ataxia Type 32, Spinocerebellar Ataxia Type 31, Spinocerebellar Ataxia Type 30, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 29, Spinocerebellar Ataxia Type 28, Spinocerebellar Ataxia Type 27, Spinocerebellar Ataxia Type 26, Spinocerebellar Ataxia Type 25, Spinocerebellar Ataxia Type 23, Spinocerebellar Ataxia Type 22, Spinocerebellar Ataxia Type 21, Spinocerebellar Ataxia Type 20, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 19/22, Spinocerebellar Ataxia Type 18, Spinocerebellar Ataxia Type 17, Spinocerebellar Ataxia Type 16, Spinocerebellar Ataxia Type 15/16, Spinocerebellar Ataxia Type 14, Spinocerebellar Ataxia Type 13, Spinocerebellar Ataxia Type 12, Spinocerebellar Ataxia Type 11, Spinocerebellar Ataxia Type 10, Spinocerebellar Ataxia Type 1 With Axonal Neuropathy, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia - Unknown, Spinocerebellar Ataxia - Dysmorphism, Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature, Spasticity-ataxia-gait Anomalies Syndrome, Spastic Ataxia With Congenital Miosis, Spastic Ataxia - Corneal Dystrophy, Spastic Ataxia, Rare Hereditary Ataxia, Rare Ataxia, Recessive Mitochondrial Ataxia Syndrome, Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature, Posterior Column Ataxia - Retinitis Pigmentosa, Post-Stroke Ataxia, Post-Head Injury Ataxia, Post Vaccination Ataxia, Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract, Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus, Non-hereditary Degenerative Ataxia, Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity, Olivopontocerebellar Atrophy - Deafness, NARP Syndrome, Myoclonus - Cerebellar Ataxia - Deafness, Multiple System Atrophy, Parkinsonian Type, Multiple System Atrophy, Cerebellar Type, Multiple System Atrophy, Maternally-inherited Leigh Syndrome, Machado-Joseph Disease Type 3, Machado-Joseph Disease Type 2, Machado-Joseph Disease Type 1, Leigh Syndrome, Late-onset Ataxia With Dementia, Infection or Post Infection Ataxia, GAD Ataxia, Hereditary Episodic Ataxia, Gliadin/Gluten Ataxia, Friedreich Ataxia, Fragile X-associated Tremor/Ataxia Syndrome, Familial Paroxysmal Ataxia, Exposure to Medications Ataxia, Episodic Ataxia With Slurred Speech, Episodic Ataxia Unknown Type, Episodic Ataxia Type 7, Episodic Ataxia Type 6, Episodic Ataxia Type 5, Episodic Ataxia Type 4, Episodic Ataxia Type 3, Episodic Ataxia Type 1, Epilepsy and/or Ataxia With Myoclonus as Major Feature, Early-onset Spastic Ataxia-neuropathy Syndrome, Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity, Early-onset Cerebellar Ataxia With Retained Tendon Reflexes, Early-onset Ataxia With Dementia, Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia, Dilated Cardiomyopathy With Ataxia, Cataract - Ataxia - Deafness, Cerebellar Ataxia, Cayman Type, Cerebellar Ataxia With Peripheral Neuropathy, Cerebellar Ataxia - Hypogonadism, Cerebellar Ataxia - Ectodermal Dysplasia, Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss, Brain Tumor Ataxia, Brachydactyly - Nystagmus - Cerebellar Ataxia, Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia, Autosomal Recessive Syndromic Cerebellar Ataxia, Autosomal Recessive Spastic Ataxia With Leukoencephalopathy, Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay, Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria, Autosomal Recessive Spastic Ataxia, Autosomal Recessive Metabolic Cerebellar Ataxia, Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine, Autosomal Recessive Ataxia, Beauce Type, Autosomal Recessive Ataxia Due to Ubiquinone Deficiency, Autosomal Recessive Ataxia Due to PEX10 Deficiency, Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia, Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency, Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency, Autosomal Recessive Congenital Cerebellar Ataxia, Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency, Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome, Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity, Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency, Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect, Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion, Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation, Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness, Autosomal Recessive Cerebellar Ataxia, Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly, Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation, Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy, Autosomal Dominant Spastic Ataxia Type 1, Autosomal Dominant Spastic Ataxia, Autosomal Dominant Optic Atrophy, Ataxia-telangiectasia Variant, Ataxia-telangiectasia, Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy, Autosomal Dominant Cerebellar Ataxia Type 4, Autosomal Dominant Cerebellar Ataxia Type 3, Autosomal Dominant Cerebellar Ataxia Type 2, Autosomal Dominant Cerebellar Ataxia Type 1, Autosomal Dominant Cerebellar Ataxia, Ataxia-telangiectasia-like Disorder, Ataxia With Vitamin E Deficiency, Ataxia With Dementia, Ataxia - Oculomotor Apraxia Type 1, Ataxia - Other, Ataxia - Genetic Diagnosis - Unknown, Acquired Ataxia, Adult-onset Autosomal Recessive Cerebellar Ataxia, Alcohol Related Ataxia, Multiple Endocrine Neoplasia, Multiple Endocrine Neoplasia Type II, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Multiple Endocrine Neoplasia, Type IV, Multiple Endocrine Neoplasia, Type 3, Multiple Endocrine Neoplasia (MEN) Syndrome, Multiple Endocrine Neoplasia Type 2B, Multiple Endocrine Neoplasia Type 2A, Atypical Hemolytic Uremic Syndrome, Atypical HUS, Wiedemann-Steiner Syndrome, Breast Implant-Associated Anaplastic Large Cell Lymphoma, Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA), Hemophagocytic Lymphohistiocytosis, Behcet's Disease, Alagille Syndrome, Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD), Lowe Syndrome, Pitt Hopkins Syndrome, 1p36 Deletion Syndrome, Jansen Type Metaphyseal Chondrodysplasia, Cockayne Syndrome, Chronic Recurrent Multifocal Osteomyelitis, CRMO, Malan Syndrome, Hereditary Sensory and Autonomic Neuropathy Type Ie, VCP Disease, Hypnic Jerking, Sleep Myoclonus, Mollaret Meningitis, Recurrent Viral Meningitis, CRB1, Leber Congenital Amaurosis, Retinitis Pigmentosa, Rare Retinal Disorder, KCNMA1-Channelopathy, Primary Biliary Cirrhosis, ZMYND11, Transient Global Amnesia, Glycogen Storage Disease, Alstrom Syndrome, White Sutton Syndrome, DNM1, EIEE31, Myhre Syndrome, Recurrent Respiratory Papillomatosis, Laryngeal Papillomatosis, Tracheal Papillomatosis, Refsum Disease, Nicolaides Baraitser Syndrome, Leukodystrophy, Tango2, Cauda Equina Syndrome, Rare Gastrointestinal Disorders, Achalasia-Addisonian Syndrome, Achalasia Cardia, Achalasia Icrocephaly Syndrome, Anal Fistula, Congenital Sucrase-Isomaltase Deficiency, Eosinophilic Gastroenteritis, Idiopathic Gastroparesis, Hirschsprung Disease, Rare Inflammatory Bowel Disease, Intestinal Pseudo-Obstruction, Scleroderma, Short Bowel Syndrome, Sacral Agenesis, Sacral Agenesis Syndrome, Caudal Regression, Scheuermann Disease, SMC1A Truncated Mutations (Causing Loss of Gene Function), Cystinosis, Juvenile Nephropathic Cystinosis, Nephropathic Cystinosis, Kennedy Disease, Spinal Bulbar Muscular Atrophy, Warburg Micro Syndrome, Mucolipidoses, Mitochondrial Diseases, Mitochondrial Aminoacyl-tRNA Synthetases, Mt-aaRS Disorders, Hypertrophic Olivary Degeneration, Non-Ketotic Hyperglycinemia, Fish Odor Syndrome, Halitosis, Isolated Congenital Asplenia, Lambert Eaton (LEMS), Biliary Atresia, STAG1 Gene Mutation, Coffin Lowry Syndrome, Borjeson-Forssman-Lehman Syndrome, Blau Syndrome, Arginase 1 Deficiency, HSPB8 Myopathy, Beta-Mannosidosis, TBX4 Syndrome, DHDDS Gene Mutations, MAND-MBD5-Associated Neurodevelopmental Disorder, Constitutional Mismatch Repair Deficiency (CMMRD), SPATA5 Disorder, SPATA5L1 Related Disorder, Acrodysostosis, Multi-systematic Smooth Muscle Dysfunction Syndrome, CRELD1 (Cysteine Rich With EGF Like Domains 1), GNB1 Syndrome, Pyruvate Dehydrogenase Complex Deficiency Disease, Beta Mannosidosis, Kbg Syndrome, Labrune Syndrome, Metachromatic Leukodystrophy (MLD), Moyamoya Disease, OPHN1 Syndrome, Oculopharyngeal Muscular Dystrophy (OPMD), TUBB3 Mutation, WOREE (WWOX-related Epileptic Encephalopathy, SCAR12, Skraban-Deardorff Syndrome, Hereditary Myopathy With Early Respiratory Failure
Interventions: Not listed
Lead sponsor: Sanford Health; Other
Eligibility: Not listed
Enrollment: 20,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2100
U.S. locations: 1
States / cities: Sioux Falls, South Dakota

Conditions: Infantile Spasm
Interventions: Cosyntropin Injectable Suspension, 1 mg/mL, Cosyntropin Injectable Suspension 1 MG/ML + vigabatrin, Vigabatrin; Drug
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 2 Months to 2 Years
Enrollment: 394 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2018 – 2021
U.S. locations: 14
States / cities: Los Angeles, California • San Francisco, California • Aurora, Colorado + 11 more

Conditions: Infantile Spasms
Interventions: Not listed
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 31 Days to 21 Years
Enrollment: 63 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2013 – 2018
U.S. locations: 1
States / cities: Aurora, Colorado

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Decreasing Parental Stress of Caregivers of Infants With Infantile Spasms by Using Telemedicine Technology

Molecular Genetic Mechanisms of Infantile Epilepsies and the Impact of Genetic Diagnosis

An Open-Label Extension Study of STK-001 for Patients With Dravet Syndrome

Palliative Care Needs of Children With Rare Diseases and Their Families

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

Phase 3 Trial of Cannabidiol (CBD; GWP42003-P) for Infantile Spasms: Open-label Extension Phase (GWPCARE7)

Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH)

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 Study to Prevent Infantile Spasms Relapse

A Study to Assess Cannabidiol Oral Solution With Vigabatrin as Initial Therapy in Participants With Infantile Spasms

Congenital Muscle Disease Study of Patient and Family Reported Medical Information

Assessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) in Children With Tuberous Sclerosis Complex (TSC), Dravet Syndrome (DS), or Lennox-Gastaut Syndrome (LGS) Who Experience Inadequately-controlled Seizures

Epilepsy Phenome/Genome Project

A Study of Orally Administered JBPOS0101 in Refractory Infantile Spasms Patients

Metabolic Abnormalities in Children With Epilepsy

An Open-Label Study to Investigate the Safety of Single and Multiple Ascending Doses in Children and Adolescents With Dravet Syndrome

Artificial Intelligence-based Video Analysis to Detect Infantile Spasms

A Randomized, Controlled Trial of Ganaxolone in Patients With Infantile Spasms

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

A Phase 3 Study to Examine the Efficacy and Safety of ZX008 in Subjects With CDKL5 Deficiency Disorder.

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

A Novel Approach to Infantile Spasms

Genetic Studies in Patients and Families With Infantile Spasms