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Showing 25–48 of 24 matching trials from the live ClinicalTrials.gov search.
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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
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
Completed Phase 1Phase 2 Interventional Results available

Safety of Simvastatin in LAM and TSC

NCT02061397
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
Recruiting No phase listed Observational Accepts healthy volunteers

Role of Genetic Factors in the Development of Lung Disease

NCT00001532
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
Recruiting No phase listed Observational

ESIS in Pediatric DRE

NCT05469373
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
Enrolling by invitation 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 – 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
Completed Phase 2 Interventional Results available

Topical Rapamycin to Erase Angiofibromas in TSC

NCT01526356
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
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