- Conditions
- Progressive Myoclonus Epilepsy Type 1, EPM1, CSTB-related Disease, Myoclonus Epilepsies, Progressive, Unverricht-Lundborg Disease, Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature, PME, Progressive Myoclonus-Epilepsies
- Interventions
- Not listed
- Lead sponsor
- Boston Children's Hospital
- Other
- Eligibility
- Not listed
- Enrollment
- 200 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2030
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
Search Results
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Search by query text, NCT ID, condition, intervention, sponsor, city, state, recruitment status, phase, study type, healthy volunteer eligibility, sex, or age. Results are retrieved from ClinicalTrials.gov and synchronized into the directory. Search pages remain noindex by default.
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Showing 25–48
of 24
matching trials from the live ClinicalTrials.gov search.
Local D1 index available.
- 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
- Inherited Mitochondrial Disease, Including Leigh Syndrome
- Interventions
- Cysteamine Bitartrate
- Drug
- Lead sponsor
- Amgen
- Industry
- Eligibility
- 6 Years to 17 Years
- Enrollment
- 36 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2016
- U.S. locations
- 5
- States / cities
- San Diego, California • Stanford, California • Akron, Ohio + 2 more
- Conditions
- Dystonia, Epilepsy in Children, Cerebral Palsy, Tourette Syndrome, Obsessive-Compulsive Disorder, Neurologic Disorder, Movement Disorders in Children, Movement Disorders, Deep Brain Stimulation
- Interventions
- Not listed
- Lead sponsor
- Boston Children's Hospital
- Other
- Eligibility
- 0 Years to 18 Years
- Enrollment
- 100 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2024 – 2029
- U.S. locations
- 1
- States / cities
- Boston, Massachusetts
- 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
- 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
- Brain Disorders, Aicardi Syndrome
- Interventions
- Not listed
- Lead sponsor
- University of California, San Francisco
- Other
- Eligibility
- Not listed
- Enrollment
- 2,000 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2003 – 2027
- U.S. locations
- 1
- States / cities
- San Francisco, California
- Conditions
- Congenital Vertical Talus, Familial Encephalopathy With Neuroserpin Inclusion Bodies, Idiopathic Generalised Epilepsy, Familial Dementia, X-linked Mental Retardation
- Interventions
- Not listed
- Lead sponsor
- State University of New York - Upstate Medical University
- Other
- Eligibility
- 6 Months and older
- Enrollment
- 176 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2005 – 2015
- U.S. locations
- 1
- States / cities
- Syracuse, New York
- 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
- 20 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2028
- U.S. locations
- 1
- States / cities
- San Francisco, California
- 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, Focal Cortical Dysplasia, Tuberous Sclerosis, Hemimegalencephaly, Polymicrogyria, Rasmussen Encephalitis, Sturge-Weber Syndrome, Gliosis, Stroke, Tumor, Brain
- Interventions
- Intra-operative brain tonometry
- Device
- Lead sponsor
- University of California, Los Angeles
- Other
- Eligibility
- Not listed
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2018 – 2023
- U.S. locations
- 1
- States / cities
- Los Angeles, California
- 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
- Lennox Gastaut Syndrome
- Interventions
- ZX008 0.2 or 0.8 mg/kg/day, Matching Placebo
- Drug
- Lead sponsor
- Zogenix International Limited, Inc., a subsidiary of Zogenix, Inc.
- Industry
- Eligibility
- 2 Years to 35 Years
- Enrollment
- 296 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2024
- U.S. locations
- 30
- States / cities
- Tucson, Arizona • Los Angeles, California • San Francisco, California + 26 more
- Conditions
- Epilepsy, Epilepsy, Temporal Lobe, Seizures
- Interventions
- anteromesial temporal resection, antiepileptic drugs
- Procedure · Drug
- Lead sponsor
- University of California, Los Angeles
- Other
- Eligibility
- 12 Years and older
- Enrollment
- 200 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2002 – 2007
- U.S. locations
- 12
- States / cities
- Phoenix, Arizona • Los Angeles, California • Atlanta, Georgia + 9 more
- Conditions
- Seizures, Epilepsy
- Interventions
- levetiracetam
- Drug
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- Other
- Eligibility
- 1 Day to 30 Days
- Enrollment
- 18 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2008 – 2010
- U.S. locations
- 1
- States / cities
- Cincinnati, Ohio
- Conditions
- Migraine, Aura, Patent Foramen Ovale
- Interventions
- BioSTAR Septal Repair Implant System, Sham Procedure
- Device · Procedure
- Lead sponsor
- NMT Medical
- Industry
- Eligibility
- 18 Years to 60 Years
- Enrollment
- 610 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2006 – 2008
- U.S. locations
- 2
- States / cities
- Stamford, Connecticut • Seattle, Washington
- Conditions
- Rett Syndrome
- Interventions
- triheptanoin
- Drug
- Lead sponsor
- Center for Rare Neurological Diseases, Norcross, GA
- Other
- Eligibility
- 2 Years and older · Female only
- Enrollment
- 12 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2016 – 2022
- U.S. locations
- 1
- States / cities
- Norcross, Georgia
- 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
- Lennox Gastaut Syndrome (LGS)
- Interventions
- Placebo, Soticlestat
- Drug
- Lead sponsor
- Takeda
- Industry
- Eligibility
- 2 Years to 55 Years
- Enrollment
- 270 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2021 – 2024
- U.S. locations
- 24
- States / cities
- Phoenix, Arizona • Tucson, Arizona • Los Angeles, California + 17 more
- Conditions
- Age-Related Macular Degeneration, Allergies, Alpha-Gal Syndrome, Alzheimer Disease, Amyloidosis, Ankylosing Spondylitis, Arthritis, Alopecia Areata, Asthma, Atopic Dermatitis, Autism, Autoimmune Hepatitis, Behcet's Disease, Beta-Thalassemia, Cancer, Celiac Disease, Kidney Diseases, COPD, Crohn Disease, Cystic Fibrosis, Diabetes, Dravet Syndrome, DMD, Fibromyalgia, Graves Disease, Thyroid Diseases, Hepatitis, Hidradenitis Suppurativa, ITP, Leukemia, ALS, Lupus or SLE, Lymphoma, Multiple Sclerosis, Myasthenia Gravis, Heart Diseases, Parkinson Disease, Pemphigus Vulgaris, Cirrhosis, Psoriasis, Schizophrenia, Scleroderma, Sickle Cell Disease, Stroke, Ulcerative Colitis, Vasculitis, Vitiligo
- Interventions
- Specimen sample
- Diagnostic Test
- Lead sponsor
- Sanguine Biosciences
- Industry
- Eligibility
- 18 Years to 85 Years
- Enrollment
- 20,000 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2021 – 2025
- U.S. locations
- 1
- States / cities
- Waltham, Massachusetts
- Conditions
- Mitochondrial Diseases, Mitochondrial Myopathies, Mitochondrial Encephalomyopathies, MELAS, MERRF
- Interventions
- Promoting Resilience in Stress Management (PRISM), Clinical-focused narrative (CFN)
- Behavioral
- Lead sponsor
- Children's Hospital of Philadelphia
- Other
- Eligibility
- 18 Years and older
- Enrollment
- 16 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2023 – 2024
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Tuberous Sclerosis Complex, Epilepsy
- Interventions
- TAVT-18 (sirolimus)
- Drug
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- Other
- Eligibility
- 1 Day to 6 Months
- Enrollment
- 5 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2022
- U.S. locations
- 1
- States / cities
- Cincinnati, Ohio
- Conditions
- Adenovirus, Anesthesia, Anxiety, Anxiolysis, Autism, Autistic Disorder, Bacterial Meningitis, Bacterial Septicemia, Benzodiazepine, Bipolar Disorder, Bone and Joint Infections, Central Nervous System Infections, Convulsions, Cytomegalovirus Retinitis, Early-onset Schizophrenia Spectrum Disorders, Epilepsy, General Anesthesia, Gynecologic Infections, Herpes Simplex Virus, Infantile Hemangioma, Infection, Inflammation, Inflammatory Conditions, Intra-abdominal Infections, Lower Respiratory Tract Infections, Migraines, Pain, Pneumonia, Schizophrenia, Sedation, Seizures, Skeletal Muscle Spasms, Skin and Skin-structure Infections, Treatment-resistant Schizophrenia, Urinary Tract Infections, Withdrawal, Sepsis, Gram-negative Infection, Bradycardia, Cardiac Arrest, Cardiac Arrhythmia, Staphylococcal Infections, Nosocomial Pneumonia, Neuromuscular Blockade, Methicillin Resistant Staphylococcus Aureus, Endocarditis, Neutropenia, Headache, Fibrinolytic Bleeding, Pulmonary Arterial Hypertension, CMV Retinitis, Hypertension, Chronic Kidney Diseases, Hyperaldosteronism, Hypokalemia, Heart Failure, Hemophilia, Heavy Menstrual Bleeding, Insomnia
- Interventions
- The POPS study is collecting PK data on children prescribed the following drugs of interest per standard of care:
- Drug
- Lead sponsor
- Daniel Benjamin
- Other
- Eligibility
- Up to 21 Years
- Enrollment
- 3,520 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2011 – 2019
- U.S. locations
- 43
- States / cities
- Anchorage, Alaska • Little Rock, Arkansas • La Jolla, California + 37 more
- Conditions
- Epilepsy, Lennox-Gastaut Syndrome
- Interventions
- GWP42003-P 20 mg/kg/day Dose, Placebo
- Drug
- Lead sponsor
- Jazz Pharmaceuticals
- Industry
- Eligibility
- 2 Years to 55 Years
- Enrollment
- 171 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2015 – 2016
- U.S. locations
- 17
- States / cities
- Tampa, Florida • Atlanta, Georgia • Chicago, Illinois + 14 more