| Recruiting | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorde NCT06081348 | Holland Bloorview Kids Rehabilitation Hospital | Phase 2 |
| Recruiting | Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling NCT06330350 | Maastricht University Medical Center | — |
| Enrolling By Invitation | Reproductive Options in Inherited Skin Diseases NCT06330324 | Maastricht University Medical Center | — |
| Recruiting | Web Intervention for Parents of Youth With Genetic Syndromes (WINGS) NCT06139172 | Rush University Medical Center | N/A |
| Recruiting | Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients NCT06523582 | Universidad Nacional Autonoma de Mexico | — |
| Completed | Remote Assessment and Intervention for Behavior Problems in Kids With TSC NCT06311474 | University of California, Los Angeles | N/A |
| Completed | KidneYou - Innovative Digital Therapy NCT05286632 | Advice Pharma Group srl | N/A |
| Active Not Recruiting | Gait in Rare Diseases NCT05161494 | Universiteit Antwerpen | — |
| Completed | Clinical Trial Data Set Re-use With Statistical Methodologies Tailored for Clinical Trials in Rare Diseases NCT05199402 | Imagine Institute | — |
| Completed | Adjunctive Ganaxolone Treatment (Part A) in TSC Followed by Long-term Treatment (Part B) NCT04285346 | Marinus Pharmaceuticals | Phase 2 |
| Completed | Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tube NCT03826628 | Dermatology Specialties Limited Partnership | Phase 2 / Phase 3 |
| Enrolling By Invitation | Parent and Infant Inter(X)Action Intervention (PIXI) NCT03836300 | RTI International | N/A |
| Recruiting | GROWing Up With Rare GENEtic Syndromes NCT04463316 | dr. Laura C. G. de Graaff-Herder | — |
| Withdrawn | Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery NCT04344626 | University of California, Los Angeles | N/A |
| Withdrawn | Turmeric as Treatment in Epilepsy NCT03254680 | NYU Langone Health | N/A |
| Unknown | JASPER Early Intervention for Tuberous Sclerosis NCT03422367 | University of California, Los Angeles | N/A |
| Terminated | Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex NCT03363763 | Aucta Pharmaceuticals, Inc | Phase 2 |
| Recruiting | Familial Investigations of Childhood Cancer Predisposition NCT03050268 | St. Jude Children's Research Hospital | — |
| Completed | Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma NCT02325505 | InCor Heart Institute | — |
| Recruiting | TSC Biosample Repository and Natural History Database NCT05676099 | National Tuberous Sclerosis Association | — |
| Completed | Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex NCT02634931 | Nobelpharma | Phase 3 |
| Completed | Phase III Trial of Topical Formulation of Sirolimus to Skin Lesions in Patients With Tuberous Sclerosis Comple NCT02635789 | Nobelpharma | Phase 3 |
| Completed | Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers NCT02104011 | University Hospital, Bordeaux | Phase 2 |
| Active Not Recruiting | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TS NCT02461459 | Boston Children's Hospital | — |
| Unknown | A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis NCT01954693 | Cardiff University | Phase 2 |
| Completed | Topical Rapamycin to Erase Angiofibromas in TSC NCT01526356 | The University of Texas Health Science Center, Houston | Phase 2 |
| Terminated | Studies of Autistic Patients: Gene Networks and Clinical Subtypes NCT01092208 | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | — |
| Completed | Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurof NCT01031901 | The University of Texas Health Science Center, Houston | Phase 1 |
| Recruiting | National Registry of Rare Kidney Diseases NCT06065852 | UK Kidney Association | — |
| Completed | Efficacy and Safety of Everolimus (RAD001) in Patients of All Ages With Subependymal Giant Cell Astrocytoma As NCT00789828 | Novartis Pharmaceuticals | Phase 3 |
| Completed | Doxycycline In Lymphangioleiomyomatosis (LAM) NCT00989742 | University of Nottingham | Phase 4 |
| Completed | Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Spora NCT00792766 | Children's Hospital Medical Center, Cincinnati | Phase 1 / Phase 2 |
| Completed | Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women NCT00552955 | National Heart, Lung, and Blood Institute (NHLBI) | — |
| Completed | Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex NCT00411619 | Children's Hospital Medical Center, Cincinnati | Phase 1 / Phase 2 |
| Completed | RAPAMYCIN FOR KIDNEY ANGIOMYOLIPOMAS NCT00126672 | Dana-Farber Cancer Institute | Phase 2 |
| Unknown | Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM NCT00490789 | Cardiff University | Phase 2 |
| Completed | RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM NCT00457964 | Children's Hospital Medical Center, Cincinnati | Phase 1 / Phase 2 |
| Completed | Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM NCT00457808 | Children's Hospital Medical Center, Cincinnati | Phase 2 |
| Recruiting | Study of Skin Tumors in Tuberous Sclerosis NCT00001975 | National Heart, Lung, and Blood Institute (NHLBI) | — |
| Recruiting | Role of Genetic Factors in the Development of Lung Disease NCT00001532 | National Heart, Lung, and Blood Institute (NHLBI) | — |
| Recruiting | Study of the Disease Process of Lymphangioleiomyomatosis NCT00001465 | National Heart, Lung, and Blood Institute (NHLBI) | — |