{"disease":{"id":"tuberous-sclerosis","name":"tuberous sclerosis"},"drugs":{"marketed":[{"drug_id":"everolimus","indication_name":"Subependymal Giant Cell Astrocytoma associated with Tuberous Sclerosis","indication_type":"approved","phase":null,"line_of_therapy":null,"is_primary_indication":false,"pivotal_trial_result":null,"pivotal_trial_p_value":null,"patient_population":null,"brand_name":"Afinitor","generic_name":"everolimus","company_name":"Novartis","drug_phase":"marketed","molecular_target":"Serine/threonine-protein kinase mTOR","drug_class":"Kinase Inhibitor [EPC]","quality_score":67,"revenue":"600","mechanism":"Afinitor works by blocking the mTOR protein, which is involved in cell growth and division."},{"drug_id":"everolimus","indication_name":"Tuberous sclerosis syndrome","indication_type":"approved","phase":null,"line_of_therapy":null,"is_primary_indication":false,"pivotal_trial_result":null,"pivotal_trial_p_value":null,"patient_population":null,"brand_name":"Afinitor","generic_name":"everolimus","company_name":"Novartis","drug_phase":"marketed","molecular_target":"Serine/threonine-protein kinase mTOR","drug_class":"Kinase Inhibitor [EPC]","quality_score":67,"revenue":"600","mechanism":"Afinitor works by blocking the mTOR protein, which is involved in cell growth and division."},{"drug_id":"afinitor","indication_name":"Tuberous sclerosis syndrome","indication_type":"approved","phase":null,"line_of_therapy":null,"is_primary_indication":false,"pivotal_trial_result":null,"pivotal_trial_p_value":null,"patient_population":null,"brand_name":null,"generic_name":"Afinitor","company_name":"Central European Society for Anticancer Drug Research","drug_phase":"marketed","molecular_target":"Multidrug resistance protein 1, Peptidyl-prolyl cis-trans isomerase FKBP1A, Serine/threonine-protein kinase mTOR","drug_class":"","quality_score":19,"revenue":null,"mechanism":null},{"drug_id":"sirolimus","indication_name":"Tuberous sclerosis syndrome","indication_type":"approved","phase":null,"line_of_therapy":null,"is_primary_indication":false,"pivotal_trial_result":null,"pivotal_trial_p_value":null,"patient_population":null,"brand_name":"Rapamune","generic_name":"sirolimus","company_name":"Pfizer","drug_phase":"marketed","molecular_target":"Serine/threonine-protein kinase mTOR","drug_class":"mTOR Inhibitor Immunosuppressant [EPC]","quality_score":80,"revenue":null,"mechanism":"Rapamune works by binding to the mTOR protein, inhibiting its activity and preventing the growth and proliferation of certain cells."},{"drug_id":"rapamycin","indication_name":"Tuberous sclerosis syndrome","indication_type":"approved","phase":null,"line_of_therapy":null,"is_primary_indication":false,"pivotal_trial_result":null,"pivotal_trial_p_value":null,"patient_population":null,"brand_name":null,"generic_name":"Rapamycin","company_name":"Institut National de la Santé Et de la Recherche Médicale, France","drug_phase":"marketed","molecular_target":"Peptidyl-prolyl cis-trans isomerase FKBP3, Sodium/nucleoside cotransporter 1, ATP-binding cassette sub-family G member 2","drug_class":"","quality_score":null,"revenue":null,"mechanism":null},{"drug_id":"afinitor","indication_name":"Subependymal Giant Cell Astrocytoma associated with Tuberous Sclerosis","indication_type":"approved","phase":null,"line_of_therapy":null,"is_primary_indication":false,"pivotal_trial_result":null,"pivotal_trial_p_value":null,"patient_population":null,"brand_name":null,"generic_name":"Afinitor","company_name":"Central European Society for Anticancer Drug Research","drug_phase":"marketed","molecular_target":"Multidrug resistance protein 1, Peptidyl-prolyl cis-trans isomerase FKBP1A, Serine/threonine-protein kinase mTOR","drug_class":"","quality_score":19,"revenue":null,"mechanism":null},{"drug_id":"rapamune","indication_name":"Tuberous sclerosis syndrome","indication_type":"approved","phase":null,"line_of_therapy":null,"is_primary_indication":false,"pivotal_trial_result":null,"pivotal_trial_p_value":null,"patient_population":null,"brand_name":null,"generic_name":"Rapamune","company_name":"Wyeth is now a wholly owned subsidiary of Pfizer","drug_phase":"marketed","molecular_target":"Peptidyl-prolyl cis-trans isomerase FKBP3, Sodium/nucleoside cotransporter 1, ATP-binding cassette sub-family G member 2","drug_class":"","quality_score":19,"revenue":null,"mechanism":null}],"pipeline":[],"offLabel":[],"totalMarketed":7,"totalPipeline":0},"trials":{"data":[{"nct_id":"NCT06065852","title":"National Registry of Rare Kidney Diseases","phase":"","overall_status":"RECRUITING","enrollment_count":35000,"lead_sponsor_name":"UK Kidney Association","has_results":false},{"nct_id":"NCT03655223","title":"Early Check: Expanded Screening in Newborns","phase":"","overall_status":"ENROLLING_BY_INVITATION","enrollment_count":30000,"lead_sponsor_name":"RTI International","has_results":false},{"nct_id":"NCT00001532","title":"Role of Genetic Factors in the Development of Lung Disease","phase":"","overall_status":"RECRUITING","enrollment_count":3500,"lead_sponsor_name":"National Heart, Lung, and Blood Institute (NHLBI)","has_results":false},{"nct_id":"NCT00001465","title":"Study of the Disease Process of Lymphangioleiomyomatosis","phase":"","overall_status":"RECRUITING","enrollment_count":2000,"lead_sponsor_name":"National Heart, Lung, and Blood Institute (NHLBI)","has_results":false},{"nct_id":"NCT03050268","title":"Familial Investigations of Childhood Cancer Predisposition","phase":"","overall_status":"RECRUITING","enrollment_count":1500,"lead_sponsor_name":"St. Jude Children's Research Hospital","has_results":false},{"nct_id":"NCT07327164","title":"Precision Medicine for Neurocutaneous Syndromes in Western China","phase":"","overall_status":"COMPLETED","enrollment_count":1200,"lead_sponsor_name":"West China Hospital","has_results":false},{"nct_id":"NCT06523582","title":"Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients","phase":"","overall_status":"RECRUITING","enrollment_count":750,"lead_sponsor_name":"Universidad Nacional Autonoma de Mexico","has_results":false},{"nct_id":"NCT06330324","title":"Reproductive Options in Inherited Skin Diseases","phase":"","overall_status":"ENROLLING_BY_INVITATION","enrollment_count":650,"lead_sponsor_name":"Maastricht University Medical Center","has_results":false},{"nct_id":"NCT04463316","title":"GROWing Up With Rare GENEtic Syndromes","phase":"","overall_status":"RECRUITING","enrollment_count":600,"lead_sponsor_name":"dr. Laura C. G. de Graaff-Herder","has_results":false},{"nct_id":"NCT00001975","title":"Study of Skin Tumors in Tuberous Sclerosis","phase":"","overall_status":"RECRUITING","enrollment_count":400,"lead_sponsor_name":"National Heart, Lung, and Blood Institute (NHLBI)","has_results":false},{"nct_id":"NCT01713946","title":"A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures","phase":"PHASE3","overall_status":"COMPLETED","enrollment_count":366,"lead_sponsor_name":"Novartis Pharmaceuticals","has_results":true},{"nct_id":"NCT06160310","title":"Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)","phase":"","overall_status":"RECRUITING","enrollment_count":300,"lead_sponsor_name":"David M. Ritter","has_results":false},{"nct_id":"NCT02544763","title":"A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6)","phase":"PHASE3","overall_status":"COMPLETED","enrollment_count":224,"lead_sponsor_name":"Jazz Pharmaceuticals","has_results":true},{"nct_id":"NCT05286632","title":"KidneYou - Innovative Digital Therapy","phase":"NA","overall_status":"COMPLETED","enrollment_count":210,"lead_sponsor_name":"Advice Pharma Group srl","has_results":false},{"nct_id":"NCT02962414","title":"Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment","phase":"PHASE3","overall_status":"ACTIVE_NOT_RECRUITING","enrollment_count":206,"lead_sponsor_name":"Novartis Pharmaceuticals","has_results":false},{"nct_id":"NCT04198181","title":"The Effectiveness and Safety of Resective Epilepsy Surgery for TRE","phase":"","overall_status":"ACTIVE_NOT_RECRUITING","enrollment_count":200,"lead_sponsor_name":"Beijing Children's Hospital","has_results":false},{"nct_id":"NCT02544750","title":"An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6)","phase":"PHASE3","overall_status":"COMPLETED","enrollment_count":199,"lead_sponsor_name":"Jazz Pharmaceuticals","has_results":true},{"nct_id":"NCT05044819","title":"Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution","phase":"PHASE4","overall_status":"ACTIVE_NOT_RECRUITING","enrollment_count":154,"lead_sponsor_name":"Jazz Pharmaceuticals","has_results":false},{"nct_id":"NCT02887781","title":"Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France","phase":"","overall_status":"UNKNOWN","enrollment_count":150,"lead_sponsor_name":"University Hospital, Brest","has_results":false},{"nct_id":"NCT05323734","title":"Adjunctive GNX Treatment Compared With Placebo in Children and Adults With TSC-related Epilepsy","phase":"PHASE3","overall_status":"COMPLETED","enrollment_count":129,"lead_sponsor_name":"Marinus Pharmaceuticals","has_results":true},{"nct_id":"NCT03836300","title":"Parent and Infant Inter(X)Action Intervention (PIXI)","phase":"NA","overall_status":"ENROLLING_BY_INVITATION","enrollment_count":120,"lead_sponsor_name":"RTI International","has_results":false},{"nct_id":"NCT05604170","title":"Open-label Study of Adjunctive GNX Treatment in Children and Adults With TSC-related Epilepsy","phase":"PHASE3","overall_status":"TERMINATED","enrollment_count":117,"lead_sponsor_name":"Marinus Pharmaceuticals","has_results":true},{"nct_id":"NCT06789419","title":"Predicting Epileptogenic Tubers in Patients with Tuberous Sclerosis Complex","phase":"","overall_status":"COMPLETED","enrollment_count":112,"lead_sponsor_name":"Beijing Children's Hospital","has_results":false},{"nct_id":"NCT03826628","title":"Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex","phase":"PHASE2, PHASE3","overall_status":"COMPLETED","enrollment_count":107,"lead_sponsor_name":"Dermatology Specialties Limited Partnership","has_results":true},{"nct_id":"NCT06311474","title":"Remote Assessment and Intervention for Behavior Problems in Kids With TSC","phase":"NA","overall_status":"COMPLETED","enrollment_count":101,"lead_sponsor_name":"University of California, Los Angeles","has_results":false},{"nct_id":"NCT03356769","title":"Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex","phase":"PHASE2","overall_status":"UNKNOWN","enrollment_count":98,"lead_sponsor_name":"Peking Union Medical College Hospital","has_results":false},{"nct_id":"NCT04112537","title":"Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship","phase":"","overall_status":"UNKNOWN","enrollment_count":90,"lead_sponsor_name":"University Hospital, Montpellier","has_results":false},{"nct_id":"NCT06764602","title":"Observational, Retrospective, Multicenter, Nonprofit Study on the Prevalence of Renal Involvement in Pediatric Patients With Tuberous Sclerosis","phase":"","overall_status":"RECRUITING","enrollment_count":80,"lead_sponsor_name":"IRCCS Azienda Ospedaliero-Universitaria di Bologna","has_results":false},{"nct_id":"NCT05864846","title":"A Study to Investigate Behavioral and Other Co-Occurring Outcomes With Epidiolex as Add-On Therapy in Participants Aged 1 to 65 Years of Age With Tuberous Sclerosis Complex","phase":"PHASE4","overall_status":"ACTIVE_NOT_RECRUITING","enrollment_count":79,"lead_sponsor_name":"Jazz Pharmaceuticals","has_results":false},{"nct_id":"NCT04198207","title":"The Effectiveness and Safety of Vagus Nerve Stimulation for TRE","phase":"","overall_status":"COMPLETED","enrollment_count":70,"lead_sponsor_name":"Beijing Children's Hospital","has_results":false},{"nct_id":"NCT05161494","title":"Gait in Rare Diseases","phase":"","overall_status":"ACTIVE_NOT_RECRUITING","enrollment_count":70,"lead_sponsor_name":"Universiteit Antwerpen","has_results":false},{"nct_id":"NCT03422367","title":"JASPER Early Intervention for Tuberous Sclerosis","phase":"NA","overall_status":"UNKNOWN","enrollment_count":64,"lead_sponsor_name":"University of California, Los Angeles","has_results":false},{"nct_id":"NCT05104983","title":"Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study","phase":"PHASE2","overall_status":"RECRUITING","enrollment_count":64,"lead_sponsor_name":"Darcy Krueger","has_results":false},{"nct_id":"NCT05059327","title":"Basimglurant (NOE-101) in Children, Adolescents, and Young Adults With TSC","phase":"PHASE2","overall_status":"COMPLETED","enrollment_count":61,"lead_sponsor_name":"Noema Pharma AG","has_results":false},{"nct_id":"NCT05495425","title":"Clinical Study of NPC-12Y Gel in Patients With Skin Lesions Associated With TSC","phase":"PHASE3","overall_status":"COMPLETED","enrollment_count":43,"lead_sponsor_name":"Nobelpharma","has_results":false},{"nct_id":"NCT00552955","title":"Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women","phase":"","overall_status":"COMPLETED","enrollment_count":35,"lead_sponsor_name":"National Heart, Lung, and Blood Institute (NHLBI)","has_results":false},{"nct_id":"NCT03276195","title":"Studies in Patients With Tuberous Sclerosis Complex","phase":"","overall_status":"COMPLETED","enrollment_count":32,"lead_sponsor_name":"Translational Genomics Research Institute","has_results":false},{"nct_id":"NCT06879665","title":"TANDem-2: Closing the Gap to Interventions for TAND","phase":"NA","overall_status":"ENROLLING_BY_INVITATION","enrollment_count":30,"lead_sponsor_name":"Vrije Universiteit Brussel","has_results":false},{"nct_id":"NCT06965881","title":"Study to Evaluate the Pharmacokinetics and Safety Effects Following Coadministration of Carbamazepine or Itraconazole With Radiprodil in Healthy Adults","phase":"PHASE1","overall_status":"TERMINATED","enrollment_count":30,"lead_sponsor_name":"GRIN Therapeutics, Inc.","has_results":false},{"nct_id":"NCT06330350","title":"Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling","phase":"","overall_status":"RECRUITING","enrollment_count":25,"lead_sponsor_name":"Maastricht University Medical Center","has_results":false},{"nct_id":"NCT03363763","title":"Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex","phase":"PHASE2","overall_status":"TERMINATED","enrollment_count":24,"lead_sponsor_name":"Aucta Pharmaceuticals, Inc","has_results":true},{"nct_id":"NCT04285346","title":"Adjunctive Ganaxolone Treatment (Part A) in TSC Followed by Long-term Treatment (Part B)","phase":"PHASE2","overall_status":"COMPLETED","enrollment_count":23,"lead_sponsor_name":"Marinus Pharmaceuticals","has_results":true},{"nct_id":"NCT05323370","title":"Lymphangioleiomyomatosis, a Study on Cathepsin K","phase":"","overall_status":"COMPLETED","enrollment_count":19,"lead_sponsor_name":"University Hospital, Tours","has_results":false},{"nct_id":"NCT06975605","title":"Phase 1, Open-label, Drug-drug Interaction Study to Assess Effect Between Radiprodil and the Co-administered Drugs.","phase":"PHASE1","overall_status":"COMPLETED","enrollment_count":18,"lead_sponsor_name":"GRIN Therapeutics, Inc.","has_results":false},{"nct_id":"NCT05867576","title":"Acceptance and Commitment Therapy in Tuberous Sclerosis Complex","phase":"NA","overall_status":"UNKNOWN","enrollment_count":15,"lead_sponsor_name":"University Hospitals Bristol and Weston NHS Foundation Trust","has_results":false},{"nct_id":"NCT01092208","title":"Studies of Autistic Patients: Gene Networks and Clinical Subtypes","phase":"","overall_status":"TERMINATED","enrollment_count":11,"lead_sponsor_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","has_results":false},{"nct_id":"NCT05199402","title":"Clinical Trial Data Set Re-use With Statistical Methodologies Tailored for Clinical Trials in Rare Diseases","phase":"","overall_status":"COMPLETED","enrollment_count":10,"lead_sponsor_name":"Imagine Institute","has_results":false},{"nct_id":"NCT05467397","title":"Feasibility of [11C]Acetate-PET in LAM and TSC","phase":"PHASE1, PHASE2","overall_status":"ACTIVE_NOT_RECRUITING","enrollment_count":7,"lead_sponsor_name":"Brigham and Women's Hospital","has_results":true},{"nct_id":"NCT04595513","title":"Stopping TSC Onset and Progression 2: Epilepsy Prevention in TSC Infants","phase":"PHASE1, PHASE2","overall_status":"COMPLETED","enrollment_count":5,"lead_sponsor_name":"Children's Hospital Medical Center, Cincinnati","has_results":true},{"nct_id":"NCT04485104","title":"Assessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) in Children With Tuberous Sclerosis Complex (TSC), Dravet Syndrome (DS), or Lennox-Gastaut Syndrome (LGS) Who Experience Inadequately-controlled Seizures","phase":"PHASE3","overall_status":"TERMINATED","enrollment_count":3,"lead_sponsor_name":"Jazz Pharmaceuticals","has_results":true}],"total":50},"guidelines":[],"source":"Drug Landscape verified database"}