tuberous sclerosis
Information
- Disease name
- tuberous sclerosis
- Disease ID
- DOID:13515
- Description
- "A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body." [url:https\://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| TSC1 | 9 | 132,891,349 | 132,944,616 | 90 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02634931 | Completed | Phase 3 | Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex | December 2015 | October 2018 |
| NCT00411619 | Completed | Phase 1/Phase 2 | Everolimus (RAD001) Therapy of Giant Cell Astrocytoma in Patients With Tuberous Sclerosis Complex | January 2007 | January 2014 |
| NCT00457808 | Completed | Phase 2 | Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM | December 2002 | March 2006 |
| NCT04285346 | Completed | Phase 2 | Adjunctive Ganaxolone Treatment (Part A) in TSC Followed by Long-term Treatment (Part B) | April 8, 2020 | August 30, 2022 |
| NCT02104011 | Completed | Phase 2 | Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers | May 22, 2015 | November 22, 2017 |
| NCT02325505 | Completed | Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma | April 2016 | August 2022 | |
| NCT00126672 | Completed | Phase 2 | RAPAMYCIN FOR KIDNEY ANGIOMYOLIPOMAS | December 20, 2005 | April 2010 |
| NCT02635789 | Completed | Phase 3 | Phase III Trial of Topical Formulation of Sirolimus to Skin Lesions in Patients With Tuberous Sclerosis Complex (TSC) | December 2015 | October 2016 |
| NCT03826628 | Completed | Phase 2/Phase 3 | Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex | July 28, 2019 | September 1, 2022 |
| NCT00457964 | Completed | Phase 1/Phase 2 | RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM | August 2005 | July 2013 |
| NCT00552955 | Completed | Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women | October 26, 2007 | March 21, 2016 | |
| NCT00789828 | Completed | Phase 3 | Efficacy and Safety of Everolimus (RAD001) in Patients of All Ages With Subependymal Giant Cell Astrocytoma Associated With Tuberous Sclerosis Complex (TSC)(EXIST-1) | August 2009 | October 2014 |
| NCT00792766 | Completed | Phase 1/Phase 2 | Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) | December 2008 | September 2013 |
| NCT00989742 | Completed | Phase 4 | Doxycycline In Lymphangioleiomyomatosis (LAM) | July 2009 | January 2013 |
| NCT01031901 | Completed | Phase 1 | Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1) | December 2009 | June 2011 |
| NCT01526356 | Completed | Phase 2 | Topical Rapamycin to Erase Angiofibromas in TSC | May 2012 | August 2014 |
| NCT03836300 | Enrolling by invitation | N/A | Parent and Infant Inter(X)Action Intervention (PIXI) | November 30, 2018 | June 30, 2025 |
| NCT06139172 | Enrolling by invitation | N/A | Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities | September 15, 2023 | December 2026 |
| NCT06330324 | Enrolling by invitation | Reproductive Options in Inherited Skin Diseases | January 1, 2024 | September 1, 2026 | |
| NCT06081348 | Not yet recruiting | Phase 2 | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders | October 2023 | April 2024 |
| NCT06330350 | Recruiting | Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling | January 1, 2024 | December 31, 2025 | |
| NCT00001532 | Recruiting | Role of Genetic Factors in the Development of Lung Disease | September 13, 1996 | ||
| NCT00001975 | Recruiting | Study of Skin Tumors in Tuberous Sclerosis | January 26, 2000 | ||
| NCT02461459 | Recruiting | Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC) | May 2015 | December 2026 | |
| NCT02890641 | Recruiting | Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies | December 12, 2015 | December 2030 | |
| NCT03050268 | Recruiting | Familial Investigations of Childhood Cancer Predisposition | April 6, 2017 | March 31, 2037 | |
| NCT04463316 | Recruiting | GROWing Up With Rare GENEtic Syndromes | October 1, 2018 | January 1, 2030 | |
| NCT05161494 | Recruiting | Gait in Rare Diseases | January 25, 2022 | February 2025 | |
| NCT05286632 | Recruiting | N/A | KidneYou - Innovative Digital Therapy | July 18, 2022 | June 2024 |
| NCT05676099 | Recruiting | TSC Biosample Repository and Natural History Database | January 2016 | December 2050 | |
| NCT06065852 | Recruiting | National Registry of Rare Kidney Diseases | November 6, 2009 | December 31, 2039 | |
| NCT06311474 | Recruiting | N/A | Remote Assessment and Intervention for Behavior Problems in Kids With TSC | August 1, 2022 | July 31, 2025 |
| NCT00001465 | Recruiting | Study of the Disease Process of Lymphangioleiomyomatosis | December 18, 1995 | ||
| NCT03363763 | Terminated | Phase 2 | Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex | April 12, 2017 | March 24, 2023 |
| NCT01092208 | Terminated | Studies of Autistic Patients: Gene Networks and Clinical Subtypes | March 17, 2010 | September 24, 2013 | |
| NCT01954693 | Unknown status | Phase 2 | A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis | June 2012 | August 6, 2018 |
| NCT03422367 | Unknown status | N/A | JASPER Early Intervention for Tuberous Sclerosis | October 24, 2017 | June 15, 2022 |
| NCT00490789 | Unknown status | Phase 2 | Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM | October 2005 | September 2009 |
| NCT05199402 | Unknown status | Clinical Trial Data Set Re-use With Statistical Methodologies Tailored for Clinical Trials in Rare Diseases | July 1, 2021 | October 1, 2023 | |
| NCT04344626 | Withdrawn | N/A | Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery | July 16, 2018 | March 2023 |
| NCT03254680 | Withdrawn | N/A | Turmeric as Treatment in Epilepsy | March 2018 | November 2018 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:7830
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q85.1
- Cross Reference ID (Disease Ontology)
- ICD9CM:759.5
- Cross Reference ID (Disease Ontology)
- MESH:D014402
- Cross Reference ID (Disease Ontology)
- MIM:PS191100
- Cross Reference ID (Disease Ontology)
- NCI:C3424
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:157033002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0041341
- Exact Synonym (Disease Ontology)
- Bourneville's disease
- Exact Synonym (Disease Ontology)
- cerebral sclerosis
- Exact Synonym (Disease Ontology)
- Epiloia
- Exact Synonym (Disease Ontology)
- Tuberose sclerosis
- Exact Synonym (Disease Ontology)
- Tuberous sclerosis syndrome
- OMIM Phenotype Series Number (OMIM)
- PS191100
- ICD10 preferred id (Insert disease from ICD10)
- D0014132
- ICD10 class code (Insert disease from ICD10)
- Q85.1
- MeSH unique ID (MeSH (Medical Subject Headings))
- D014402