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Showing 1–24 of 66 matching trials from the live ClinicalTrials.gov search.
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Conditions
Tuberous Sclerosis Complex-associated Refractory Seizures
Interventions
RAD001, Placebo, Antiepileptic drug (1 to 3 only), open label RAD001 (only used for post-extension phase)
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
2 Years to 65 Years
Enrollment
366 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2017
U.S. locations
22
States / cities
Birmingham, Alabama • Phoenix, Arizona • Los Angeles, California + 18 more
Conditions
Facial Angiofibroma
Interventions
Rapamune
Drug
Lead sponsor
Le Bonheur Children's Hospital
Other
Eligibility
3 Years to 45 Years
Enrollment
11 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2016
U.S. locations
1
States / cities
Memphis, Tennessee
Conditions
Tuberous Sclerosis Complex
Interventions
Not listed
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
7 Years to 65 Years
Enrollment
450 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2008 – 2013
U.S. locations
1
States / cities
Cincinnati, Ohio
Conditions
Lennox Gastaut Syndrome, Dravet Syndrome, Tuberous Sclerosis Complex
Interventions
Cannabidiol
Drug
Lead sponsor
Jazz Pharmaceuticals
Industry
Eligibility
1 Year and older
Enrollment
154 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2028
U.S. locations
26
States / cities
Little Rock, Arkansas • Downey, California • Long Beach, California + 22 more
Conditions
Tuberous Sclerosis, Lymphangioleiomyomatosis
Interventions
Phlebotomy, Buccal (cheek) swab, Genetic Testing, Tissue donation after routine clinical procedure
Procedure · Genetic · Other
Lead sponsor
National Tuberous Sclerosis Association
Other
Eligibility
Not listed
Enrollment
5,000 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2050
U.S. locations
24
States / cities
Birmingham, Alabama • Loma Linda, California • Los Angeles, California + 19 more
Conditions
Tuberous Sclerosis Complex, Seizures
Interventions
GWP42003-P, Placebo
Drug
Lead sponsor
Jazz Pharmaceuticals
Industry
Eligibility
1 Year to 65 Years
Enrollment
224 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
23
States / cities
Birmingham, Alabama • Little Rock, Arkansas • Los Angeles, California + 20 more
Conditions
Complex Partial Seizures
Interventions
vigabatrin
Drug
Lead sponsor
University of Pennsylvania
Other
Eligibility
18 Years and older
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2010 – 2013
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Withdrawn Not applicable Interventional

Turmeric as Treatment in Epilepsy

NCT03254680
Conditions
Epilepsy, Dravet Syndrome, Lennox-Gastaut Syndrome, Tuberous Sclerosis, Focal Seizures
Interventions
Turmeric
Dietary Supplement
Lead sponsor
NYU Langone Health
Other
Eligibility
1 Year to 70 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018
U.S. locations
1
States / cities
New York, New York
Conditions
Angiofibroma of Face, Tuberous Sclerosis
Interventions
Sirolimus 0.2%, Sirolimus 0.4%, Placebo ointment
Drug
Lead sponsor
Aucta Pharmaceuticals, Inc
Industry
Eligibility
2 Years to 21 Years
Enrollment
24 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2023
U.S. locations
7
States / cities
Phoenix, Arizona • Los Angeles, California • Aurora, Colorado + 4 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
Tuberous Sclerosis, Autism Disorder, Intellectual Disability
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
18 Months and older
Enrollment
205 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2015 – 2026
U.S. locations
6
States / cities
Birmingham, Alabama • Los Angeles, California • Palo Alto, California + 3 more
Conditions
Tuberous Sclerosis Complex Associated Neuropsychiatric Disease
Interventions
Cannabidiol Oral Solution [Epidiolex]
Drug
Lead sponsor
Jazz Pharmaceuticals
Industry
Eligibility
1 Year to 65 Years
Enrollment
79 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
12
States / cities
Aurora, Colorado • New Haven, Connecticut • Gainesville, Florida + 9 more
Conditions
Tuberous Sclerosis Complex
Interventions
Not listed
Lead sponsor
Translational Genomics Research Institute
Other
Eligibility
Not listed
Enrollment
32 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2023
U.S. locations
1
States / cities
Phoenix, Arizona
Conditions
Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM)
Interventions
Everolimus (RAD001), Everolimus Placebo
Drug
Lead sponsor
Novartis Pharmaceuticals
Industry
Eligibility
18 Years and older
Enrollment
118 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2009 – 2015
U.S. locations
6
States / cities
Birmingham, Alabama • Phoenix, Arizona • Boston, Massachusetts + 3 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
Tumor, Tumor, Solid, Metastasis, Metastatic Cancer, Cancer, Cancer Metastatic, Tumors, Neoplasms, Neoplasm Metastasis, Solid Tumor, Advanced Solid Tumor, Advanced Cancer, Malignant Solid Tumor, Malignant Solid Neoplasm, Malignant Neoplasm, Malignant Tumor, TSC, TSC1, TSC2, Metastatic Solid Tumor, Metastatic Neoplasm
Interventions
nab-sirolimus
Drug
Lead sponsor
Aadi Bioscience, Inc.
Industry
Eligibility
12 Years and older
Enrollment
120 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2025
U.S. locations
159
States / cities
Birmingham, Alabama • Mobile, Alabama • Goodyear, Arizona + 137 more
Completed Not applicable Interventional

TSC Remote Assessment and Intervention

NCT04698538
Conditions
TSC
Interventions
JASPER
Behavioral
Lead sponsor
University of California, Los Angeles
Other
Eligibility
12 Months to 36 Months
Enrollment
54 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2024
U.S. locations
1
States / cities
Los Angeles, California
Conditions
Tuberous Sclerosis
Interventions
JASPER
Behavioral
Lead sponsor
University of California, Los Angeles
Other
Eligibility
6 Months to 40 Months
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2017 – 2022
U.S. locations
2
States / cities
Los Angeles, California • Boston, Massachusetts
Conditions
Tuberous Sclerosis, Lymphangioleiomyomatosis
Interventions
Rapamycin, sirolimus
Drug
Lead sponsor
Children's Hospital Medical Center, Cincinnati
Other
Eligibility
18 Years to 65 Years
Enrollment
25 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2002 – 2006
U.S. locations
1
States / cities
Cincinnati, Ohio
Conditions
Tuberous Sclerosis Complex, Epilepsy
Interventions
Sirolimus, Placebo
Drug
Lead sponsor
Darcy Krueger
Other
Eligibility
1 Day to 6 Months
Enrollment
64 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2027
U.S. locations
11
States / cities
Birmingham, Alabama • Los Angeles, California • Palo Alto, California + 8 more
Conditions
Tuberous Sclerosis Complex
Interventions
Not listed
Lead sponsor
Boston Children's Hospital
Other
Eligibility
3 Months to 12 Months
Enrollment
166 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2013 – 2020
U.S. locations
5
States / cities
Birmingham, Alabama • Los Angeles, California • Boston, Massachusetts + 2 more
Enrolling by invitation Not applicable Interventional Accepts healthy volunteers

Parent and Infant Inter(X)Action Intervention (PIXI)

NCT03836300
Conditions
Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome, Duchenne Muscular Dystrophy, Phelan-McDermid Syndrome, Rett Syndrome, Smith Magenis Syndrome, Williams Syndrome, Turner Syndrome, Klinefelter Syndrome, Chromosome 22q11.2 Deletion Syndrome, Tuberous Sclerosis, Down Syndrome
Interventions
Parent-Infant Inter(X)action Intervention (PIXI)
Behavioral
Lead sponsor
RTI International
Other
Eligibility
Up to 99 Years
Enrollment
120 participants
Healthy volunteers
Accepts healthy volunteers
Timeline
2018 – 2026
U.S. locations
1
States / cities
Research Triangle Park, North Carolina
Active, not recruiting No phase listed Observational Accepts healthy volunteers

Early Check: Expanded Screening in Newborns

NCT03655223
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
Tuberous Sclerosis Complex, Lymphangioleiomyomatosis
Interventions
Not listed
Lead sponsor
David M. Ritter
Other
Eligibility
Female only
Enrollment
300 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2029
U.S. locations
1
States / cities
Cincinnati, Ohio