Tuberous Sclerosis Clinical Trial
Official title:
A Trial of the Efficacy and Safety of Sirolimus(Rapamycin)Therapy for Renal Angiomyolipmoas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis
The purpose of this study is to determine the safety and efficacy of the mTOR inhibitor sirolimus as a treatment for renal angiomyolipomas in patients with tyberous sclerosis complex or sporadic lymphangioleiomyomatosis.
Inherited mutations of the TSC1 or TSC2 gene cause tuberous sclerosis while acquired (somatic) mutations of either gene are associated with sporadic lymphangioleiomyomatosis (LAM). Renal angiomyolipomas are a feature of both disorders. TSC1 and TSC2 regulate signalling through the mammalian target of rapamycin (mTOR) pathway. Inhibition of mTOR may result in a decrease in size of TSC 1/2 assciated lesions. We are treating patients with tuberous sclerosis or sporadic LAM with the mTOR inhibitor rapamycin in a non-randomised, open label pilot study of safety and efficacy. Change in size of renal angiomyolipomas is the primary end point ;
Status | Clinical Trial | Phase | |
---|---|---|---|
Enrolling by invitation |
NCT06139172 -
Promoting Prosocial Behavior in Syndromic Intellectual and Developmental Disabilities
|
N/A | |
Recruiting |
NCT00001532 -
Role of Genetic Factors in the Development of Lung Disease
|
||
Completed |
NCT00552955 -
Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women
|
||
Recruiting |
NCT03422367 -
JASPER Early Intervention for Tuberous Sclerosis
|
N/A | |
Not yet recruiting |
NCT06081348 -
Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
|
Phase 2 | |
Recruiting |
NCT04463316 -
GROWing Up With Rare GENEtic Syndromes
|
||
Recruiting |
NCT06065852 -
National Registry of Rare Kidney Diseases
|
||
Enrolling by invitation |
NCT03836300 -
Parent and Infant Inter(X)Action Intervention (PIXI)
|
N/A | |
Completed |
NCT02104011 -
Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers
|
Phase 2 | |
Recruiting |
NCT02461459 -
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
|
||
Completed |
NCT01526356 -
Topical Rapamycin to Erase Angiofibromas in TSC
|
Phase 2 | |
Withdrawn |
NCT03254680 -
Turmeric as Treatment in Epilepsy
|
N/A | |
Terminated |
NCT01092208 -
Studies of Autistic Patients: Gene Networks and Clinical Subtypes
|
||
Active, not recruiting |
NCT01954693 -
A Study of Everolimus in the Treatment of Neurocognitive Problems in Tuberous Sclerosis
|
Phase 2 | |
Completed |
NCT03826628 -
Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex
|
Phase 2/Phase 3 | |
Completed |
NCT00989742 -
Doxycycline In Lymphangioleiomyomatosis (LAM)
|
Phase 4 | |
Recruiting |
NCT05286632 -
KidneYou - Innovative Digital Therapy
|
N/A | |
Withdrawn |
NCT04344626 -
Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery
|
N/A | |
Recruiting |
NCT05199402 -
Clinical Trial Data Set Re-use With Statistical Methodologies Tailored for Clinical Trials in Rare Diseases
|
||
Recruiting |
NCT00001975 -
Study of Skin Tumors in Tuberous Sclerosis
|