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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

Conditions: Oxidative Phosphorylation Deficiencies, Electron Transport Chain Disorders, Mitochondrial, Mitochondrial Disorders, Leigh Disease
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 4 Weeks to 115 Years
Enrollment: 500 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 2012
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Neurologic Disorders, Nervous System Diseases, Neurodegenerative Diseases, Neurological Disorders, Stroke, Traumatic Brain Injury, Cadasil, Chronic Traumatic Encephalopathy, Cerebral Infarction, Cerebral Ischemia, Cerebral Stroke, Cerebral Hemorrhage, Parkinson, Multi-System Degeneration, MSA - Multiple System Atrophy, Progressive Supranuclear Palsy, ALS, Amyotrophic Lateral Sclerosis, Neuropathy, Diabetic Neuropathies, Alzheimer Disease, Dementia, Frontotemporal Dementia, Lewy Body Disease, Cognitive Impairment, Lewy Body Variant of Alzheimer Disease
Interventions: Intravenous and Intranasal BMSC; Procedure
Lead sponsor: MD Stem Cells; Industry
Eligibility: 18 Years and older
Enrollment: 500 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2028
U.S. locations: 2
States / cities: Westport, Connecticut • Coral Springs, Florida

Conditions: Preterm Less Than 32wks With IVH, WMI/PVL, Late Preterm or Term (37-42wks) With Neonatal Encephalopathy Treated With Hypothermia for HIE
Interventions: Prospective Clinical and Neurodevelopmental Data Collection; Other
Lead sponsor: Brigham and Women's Hospital; Other
Eligibility: 31 Weeks to 42 Weeks
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2028
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome, Mitochondrial Encephalopathy (MELAS), Pontocerebellar Hypoplasia Type 6 (PCH6), Alpers Disease, Alpers Syndrome
Interventions: Vatiquinone, Placebo; Drug · Other
Lead sponsor: PTC Therapeutics; Industry
Eligibility: Up to 20 Years
Enrollment: 68 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2023
U.S. locations: 12
States / cities: San Diego, California • Stanford, California • New Haven, Connecticut + 7 more

Conditions: MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
Interventions: Glycerol Tributyrate; Drug
Lead sponsor: George Washington University; Other
Eligibility: 18 Years to 65 Years
Enrollment: 24 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2027 – 2028
U.S. locations: 1
States / cities: Washington D.C., District of Columbia

Conditions: Hypoxic-Ischemic Encephalopathy, Brain Ischemia Hypoxia
Interventions: Sulfur hexafluoride lipid-type A microspheres; Drug
Lead sponsor: Children's Hospital of Philadelphia; Other
Eligibility: 1 Minute to 18 Months
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2024
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Hypoxic Ischemic Encephalopathy
Interventions: Darbepoetin alfa, Placebo; Drug
Lead sponsor: University of Utah; Other
Eligibility: Up to 24 Hours
Enrollment: 30 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2014
U.S. locations: 7
States / cities: Albuquerque, New Mexico • Nashville, Tennessee • Ogden, Utah + 3 more

Conditions: Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder), Cerebral Palsy (CP), Cerebral Palsy Hemiparetic Cerebral Palsy Spasticity Gait Disorders, Neurologic Postural Balance Impairment, Cerebral Palsy Infantile, Cerebral Palsy Spastic Hemiplegic, Cerebral Palsy, Dyskinetic, Autism Spectrum Disorder, Autism Spectrum Disorder (ASD, Hypoxic Ischemic Encephalopathy, Hypoxic Ischemic Encephalopathy (HIE), Traumatic Brain Injury (TBI), Sensory Processing Disorder, Chromosomal Abnormalities, Genetic Disorders, Down Syndrome (Trisomy 21), Fragile X Syndrome (FXS), RETT Syndrome With Proven MECP2 Mutation, Williams Syndrome, 22q11.2 Deletion Syndrome, Sensorimotor Integration
Interventions: Not listed
Lead sponsor: Healing Hope International; Other
Eligibility: 4 Years to 12 Years
Enrollment: 100 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2036
U.S. locations: 1
States / cities: The Woodlands, Texas

Conditions: Neonatal Encephalopathy
Interventions: Telemedicine consult; Diagnostic Test
Lead sponsor: MaineHealth; Other
Eligibility: 0 Hours to 6 Hours
Enrollment: 23 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2021 – 2023
U.S. locations: 1
States / cities: Portland, Maine

Conditions: Neonatal Encephalopathy, Neonatal Encephalopathy (Neonatal Hypoxic-ischemic Encephalopathy), Neonatal Encephalopathy, Unspecified
Interventions: CergenX Wave; Device
Lead sponsor: CergenX Limited; Industry
Eligibility: 36 Weeks and older
Enrollment: 165 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2027
U.S. locations: 1
States / cities: Dallas, Texas

Conditions: Neonatal Hypoxic-Ischemic Encephalopathy (HIE)
Interventions: Cool-Cap; Device
Lead sponsor: Olympic Medical; Industry
Eligibility: 1 Hour to 6 Hours
Enrollment: 235 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1999 – 2003
U.S. locations: 19
States / cities: Little Rock, Arkansas • Oakland, California • San Diego, California + 15 more

Conditions: Infant, Newborn, Hypoxia, Brain, Hypoxia-Ischemia, Brain, Encephalopathy, Hypoxic-Ischemic, Hypoxic-Ischemic Encephalopathy, Ischemic-Hypoxic Encephalopathy
Interventions: Hypothermia, Normothermic Control; Device · Procedure
Lead sponsor: NICHD Neonatal Research Network; Network
Eligibility: 33 Weeks to 35 Weeks
Enrollment: 168 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2022
U.S. locations: 18
States / cities: Birmingham, Alabama • Palo Alto, California • Atlanta, Georgia + 14 more

Conditions: Mild Hypoxic Ischemic Encephalopathy of Newborn
Interventions: Normothermia, Whole body therapeutic hypothermia; Procedure
Lead sponsor: University of Texas Southwestern Medical Center; Other
Eligibility: 36 Weeks and older
Enrollment: 460 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2029
U.S. locations: 1
States / cities: Dallas, Texas

Conditions: Neonatal Seizure, Neonatal Encephalopathy, Hypoxic-Ischemic Encephalopathy, Seizure Newborn
Interventions: Levetiracetam Injection, Phenobarbital Sodium Injection; Drug
Lead sponsor: University of California, San Diego; Other
Eligibility: Up to 1 Month
Enrollment: 133 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2023 – 2027
U.S. locations: 2
States / cities: San Diego, California • Minneapolis, Minnesota

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: Neonatal Encephalopathy
Interventions: Sildenafil, Ora-Blend; Drug
Lead sponsor: Pia Wintermark; Other
Eligibility: 0 Minutes to 48 Hours
Enrollment: 60 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2031
U.S. locations: 1
States / cities: Denver, Colorado

Conditions: Hypoxic-Ischemic Encephalopathy, Brain Injury, Neonatal Seizure
Interventions: Neurologic examination; Other
Lead sponsor: McGill University Health Centre/Research Institute of the McGill University Health Centre; Other
Eligibility: Up to 6 Hours
Enrollment: 63 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2017
U.S. locations: 4
States / cities: Detroit, Michigan • Columbus, Ohio • Providence, Rhode Island + 1 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: 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, Parry Romberg Syndrome, Lesch-Nyhan Disease, GNB1 Gene Mutation, Pierpont Syndrome, TBL1XR1 Gene Variant, Activated PI3K Delta Syndrome (APDS), Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia (ALSP), Brain Abnormalities, Neurodegeneration, and Dysosteosclerosis, CSF1R Related Disease (CSF1R-RD), Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids and Pigmented Glia, Nasu-Hakola Disease
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: Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
Interventions: zagociguat 15mg, zagociguat 30mg, Placebo; Drug
Lead sponsor: Tisento Therapeutics; Industry
Eligibility: 18 Years to 75 Years
Enrollment: 43 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2026
U.S. locations: 10
States / cities: La Jolla, California • Aurora, Colorado • Atlanta, Georgia + 5 more

Conditions: Seizures, Encephalopathy
Interventions: EEG monitoring and treatment of EEG seizures; Other
Lead sponsor: Washington University School of Medicine; Other
Eligibility: 1 Hour to 72 Hours
Enrollment: 69 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2015
U.S. locations: 1
States / cities: St Louis, Missouri

Conditions: Hypoxic Ischemic Encephalopathy
Interventions: Melatonin, Magnetic Resonance Imaging, Pharmacokinetics, Neurological Outcome Assessment; Drug · Other · Behavioral
Lead sponsor: University of Florida; Other
Eligibility: Up to 6 Hours
Enrollment: 70 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2027
U.S. locations: 2
States / cities: Gainesville, Florida • Orlando, Florida

Conditions: Hypoxic-Ischemic Encephalopathy, Neonatal Encephalopathy, Encephalopathy
Interventions: Visual Evoked Potential (VEP), Electroretinogram (ERG); Device
Lead sponsor: University of Wisconsin, Madison; Other
Eligibility: Up to 36 Months
Enrollment: 125 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2020 – 2029
U.S. locations: 1
States / cities: Madison, Wisconsin

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North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

The NIH MINI Study: Metabolism, Infection, and Immunity in Inborn Errors of Metabolism

Neurologic Stem Cell Treatment Study

Cerebral/ Cortical Visual Impairment: Screening, Identification and Outcome Prediction in Neonates

A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy

A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)

CEUS Evaluation of Hypoxic Ischemic Injury

Darbe Administration in Newborns Undergoing Cooling for Encephalopathy

Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders

Telemedicine to Reduce Disparities in the Identification and Treatment of Neonatal Encephalopathy

Newborn Brain Assessment - CergenX Wave

CoolCap Trial, Treatment of Perinatal Hypoxic-Ischemic Encephalopathy

Preemie Hypothermia for Neonatal Encephalopathy

Cool Prime Comparative Effectiveness Study for Mild HIE

A Dose Escalation Study of Levetiracetam in the Treatment of Neonatal Seizures

Maternal Hyperoxygenation for Intrapartum Fetal Heart Rate Tracing Abnormalities

Treatment of Neonatal Encephalopathy With Oral Sildenafil Suspension to Repair Brain Injury Secondary to Birth Asphyxia

Prospective Research in Infants With Mild Encephalopathy

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

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

A Phase 2b Study of Zagociguat in Patients With MELAS

The Impact of Electroencephalographic (EEG) Seizure Treatment in Neonatal Encephalopathy

Melatonin as a Neuroprotective Therapy in Neonates With HIE Undergoing Hypothermia

Healthy Little Eyes