- Conditions
- Tuberous Sclerosis, Angiolipoma
- Interventions
- everolimus (RAD001)
- Drug
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- Other
- Eligibility
- 18 Years to 65 Years
- Enrollment
- 20 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2008 – 2013
- U.S. locations
- 1
- States / cities
- Cincinnati, Ohio
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Showing 25–48
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- 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
- Lymphangioleiomyomatosis, Tuberous Sclerosis Complex
- Interventions
- Simvastatin, Sirolimus Oral Product, Everolimus Oral Product
- Drug
- Lead sponsor
- University of Pennsylvania
- Other
- Eligibility
- 18 Years and older · Female only
- Enrollment
- 10 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2014 – 2019
- U.S. locations
- 1
- States / cities
- Philadelphia, Pennsylvania
- Conditions
- Tuberous Sclerosis Complex
- Interventions
- Not listed
- Lead sponsor
- University of Alabama at Birmingham
- Other
- Eligibility
- 1 Day to 6 Months
- Enrollment
- 40 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2012 – 2018
- U.S. locations
- 5
- States / cities
- Birmingham, Alabama • Los Angeles, California • Boston, Massachusetts + 2 more
- 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
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML, BAP1 Tumor Predisposition Syndrome, Carney Complex, Choroid Plexus Carcinoma, Constitutional Mismatch Repair Deficiency Syndrome, Diamond-Blackfan Anemia, DICER1 Syndrome, Dyskeratosis Congenita, Emberger Syndrome, Familial Acute Myeloid Leukemia, Familial Adenomatous Polyposis, Fanconi Anemia, Familial Cancer, Familial Wilms Tumor, Familial Neuroblastoma, GIST, Hereditary Breast and Ovarian Cancer, Hereditary Paraganglioma-Pheochromocytoma Syndrome, Hodgkin Lymphoma, Juvenile Polyposis, Li-Fraumeni Syndrome, Lynch Syndrome, MDS, Melanoma Syndrome, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2, Neuroblastoma, Neurofibromatosis Type 1, Neurofibromatosis Type II, Nevoid Basal Cell Carcinoma Syndrome, Non Hodgkin Lymphoma, Noonan Syndrome and Other Rasopathy, Overgrowth Syndromes, Pancreatic Cancer, Peutz-Jeghers Syndrome, Pheochromocytoma/Paraganglioma, PTEN Hamartoma Tumor Syndrome, Retinoblastoma, Rhabdoid Tumor Predisposition Syndrome, Rhabdomyosarcoma, Rothmund-Thomson Syndrome, Tuberous Sclerosis, Von Hippel-Lindau Disease
- Interventions
- Not listed
- Lead sponsor
- St. Jude Children's Research Hospital
- Other
- Eligibility
- Not listed
- Enrollment
- 1,500 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2017 – 2037
- U.S. locations
- 1
- States / cities
- Memphis, Tennessee
- Conditions
- Facial Angiofibroma, Tuberous Sclerosis
- Interventions
- rapamycin, placebo
- Drug
- Lead sponsor
- Dermatology Specialties Limited Partnership
- Industry
- Eligibility
- 6 Years to 65 Years
- Enrollment
- 107 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2019 – 2022
- U.S. locations
- 6
- States / cities
- Phoenix, Arizona • La Jolla, California • St. Petersburg, Florida + 3 more
- Conditions
- Lymphangioleiomyomas, Tuberous Sclerosis, Lymphangioleiomyomatosis
- Interventions
- Not listed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- NIH
- Eligibility
- 18 Years to 80 Years · Female only
- Enrollment
- 35 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2007 – 2016
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- 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, 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
- Cystic Fibrosis, Pulmonary Fibrosis, Tuberous Sclerosis, Asthma, Pulmonary Sarcoidosis
- Interventions
- Not listed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- NIH
- Eligibility
- 2 Years to 90 Years
- Enrollment
- 3,500 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- Started 1996
- U.S. locations
- 2
- States / cities
- Bethesda, Maryland
- 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
- 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
- Tuberous Sclerosis
- Interventions
- Ganaxolone
- Drug
- Lead sponsor
- Marinus Pharmaceuticals
- Industry
- Eligibility
- 2 Years to 65 Years
- Enrollment
- 23 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2020 – 2022
- U.S. locations
- 7
- States / cities
- Los Angeles, California • Palo Alto, California • Boston, Massachusetts + 4 more
- Conditions
- Leiomyomatosis
- Interventions
- Not listed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- NIH
- Eligibility
- Not listed
- Enrollment
- 400 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 1998 – 2003
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Epilepsy
- Interventions
- Not listed
- Lead sponsor
- Sarah Katie Ihnen
- Other
- Eligibility
- 1 Year to 30 Years
- Enrollment
- 86 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2027
- U.S. locations
- 1
- States / cities
- Cincinnati, Ohio
- Conditions
- Tuberous Sclerosis
- Interventions
- Not listed
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- NIH
- Eligibility
- 18 Years to 90 Years
- Enrollment
- 400 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 2000
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
- Conditions
- Sleep Disorders
- Interventions
- Circadin 2/5/10 mg, Placebo
- Drug
- Lead sponsor
- Neurim Pharmaceuticals Ltd.
- Industry
- Eligibility
- 2 Years to 17 Years
- Enrollment
- 125 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2013 – 2018
- U.S. locations
- 18
- States / cities
- Phoenix, Arizona • Miami Lakes, Florida • Orange City, Florida + 14 more
- Conditions
- Tuberous Sclerosis Complex
- Interventions
- Ganaxolone
- Drug
- Lead sponsor
- Marinus Pharmaceuticals
- Industry
- Eligibility
- 1 Year to 65 Years
- Enrollment
- 117 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2022 – 2025
- U.S. locations
- 20
- States / cities
- Little Rock, Arkansas • Los Angeles, California • Orange, California + 17 more
- 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
- 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 – 2025
- U.S. locations
- 1
- States / cities
- Research Triangle Park, North Carolina
- 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
- Angiofibromas, Tuberous Sclerosis
- Interventions
- Placebo, Rapamycin
- Drug
- Lead sponsor
- The University of Texas Health Science Center, Houston
- Other
- Eligibility
- Not listed
- Enrollment
- 179 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- 2012 – 2014
- U.S. locations
- 9
- States / cities
- Birmingham, Alabama • Los Angeles, California • Oakland, California + 6 more
- 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