Clinical trials: Tuberous Sclerosis Complex (TSC)
Renal Angiomyolipoma
Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex.
The purpose of this study was to assess the safety and efficacy of everolimus (Afinitor®) in Chinese patients with renal angiomyolipoma (AML) associated with tuberous sclerosis complex (TSC).
- Trial name
- NCT03525834
- Testing
- Everolimus
- Where
- 5 sites in China
- Volunteers
- 40 people
- Sponsor
- Novartis Pharmaceuticals
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Breast Cancer Metastatic, Renal Cell Carcinoma (RCC)
Sapu003 in Advanced mTOR-sensitive Solid Tumors
This is a phase 1b, open-label, dose-escalation study to evaluate the safety, tolerability, pharmacokinetics of Sapu003 in combination with Exemestane in in patients with advanced mTOR-sensitive solid tumors (HR+/HER2-negative…
- Conditions
- Breast Cancer Metastatic, Renal Cell Carcinoma (RCC), Neuroendocrine Tumors, Tuberous Sclerosis Complex (TSC)
- Trial name
- NCT07369505
- Testing
- Sapu003, Exemestane 25 MG
- Where
- Australia
- Volunteers
- 27 people
- Sponsor
- SAPU NANO (US) LLC
Tuberous Sclerosis Complex, Seizures
An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6)
This trial consists of 2 parts: a double-blinded phase and an open-label extension phase. The open-label extension phase only will be described in this record. All participants will receive the same dose of GWP42003-P.
- Trial name
- NCT02544750
- Testing
- GWP42003-P
- Where
- United States
- Volunteers
- 199 people
- Sponsor
- Jazz Pharmaceuticals
Tuberous Sclerosis Complex Associated Neuropsychiatric Disease
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
The purpose of this study is to investigate behavioral and other co-occurring outcomes with EPID(I/Y)OLEX as an add-on therapy in participants aged 1 to 65 years with tuberous sclerosis complex (TSC) who experience seizures.
- Trial name
- EpiCom (NCT05864846)
- Testing
- Cannabidiol Oral Solution [Epidiolex]
- Where
- 19 sites in United States, Canada and 2 more
- Volunteers
- 79 people
- Sponsor
- Jazz Pharmaceuticals
Tuberous Sclerosis Complex-associated Refractory Seizures
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
This study evaluated the efficacy and safety of two trough-ranges of everolimus given as adjunctive therapy in patients with tuberous sclerosis complex (TSC) who had refractory partial-onset seizures.
- Trial name
- EXIST-3 (NCT01713946)
- Testing
- RAD001, Antiepileptic drug (1 to 3 only), open label RAD001 (only used for post-extension phase)
- Where
- 104 sites in United States, Argentina and 23 more
- Volunteers
- 366 people
- Sponsor
- Novartis Pharmaceuticals
Cystic Fibrosis, Pulmonary Fibrosis
Role of Genetic Factors in the Development of Lung Disease
This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease.
- Conditions
- Cystic Fibrosis, Pulmonary Fibrosis, Tuberous Sclerosis, Asthma
- Trial name
- NCT00001532
- Where
- 2 sites in United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Ichthyosis, Palmoplantar Keratoses
Reproductive Options in Inherited Skin Diseases
The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of…
- Conditions
- Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia
- Trial name
- REPRO-ISD (NCT06330324)
- Where
- Netherlands
- Volunteers
- 650 people
- Sponsor
- Maastricht University Medical Center
Renal Angiomyolipoma
A Phase IV Study of Safety and Efficacy of Everolimus in Taiwanese Patients With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma (TSC-AML)
The purpose of this prospective study is to assess the safety and efficacy of everolimus in Taiwanese patients with renal angiomyolipoma (AML) associated with tuberous sclerosis complex (TSC) .
- Trial name
- NCT05252585
- Testing
- Everolimus
- Where
- 4 sites in Taiwan
- Volunteers
- 4 people
- Sponsor
- Novartis Pharmaceuticals
Sturge-Weber Syndrome, Neurocutaneous Syndromes
Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics
This cross-sectional study aims to determine the prevalence, clinical characteristics, and management patterns of neurocutaneous syndromes among children attending the Pediatric Neurology Unit at Assiut University.
- Conditions
- Sturge-Weber Syndrome, Neurocutaneous Syndromes, Neurofibromatoses, Tuberous Sclerosis
- Trial name
- NCT07843823
- Volunteers
- 100 people
- Sponsor
- Assiut University
Tuberous Sclerosis
Remote Assessment and Intervention for Behavior Problems in Kids With TSC
The RAINBOW study is a fully remote study focused on understanding and treating behavior problems in young children with tuberous sclerosis complex (TSC).
- Trial name
- RAINBOW (NCT06311474)
- Testing
- Parent-Child Interaction Therapy (PCIT)
- Where
- United States
- Volunteers
- 101 people
- Sponsor
- University of California, Los Angeles
Epilepsy, Tuberous Sclerosis Complex
A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD
The purpose of this study is to measure if the drug called Everolimus effects mTOR signaling (an electrical activity signal in the brain) in patients with Tuberous Sclerosis Complex (TSC) and Focal Cortical Dysplasia (FCD) with…
- Conditions
- Epilepsy, Tuberous Sclerosis Complex, Focal Cortical Dysplasia
- Trial name
- NCT02451696
- Testing
- Everolimus
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- NYU Langone Health
Tuberous Sclerosis
Adjunctive Ganaxolone Treatment (Part A) in TSC Followed by Long-term Treatment (Part B)
To assess preliminary safety and efficacy of ganaxolone as adjunctive therapy for the treatment of primary seizure types in patients with genetically- or clinically-confirmed TSC-related epilepsy through the end of the 12 week…
- Trial name
- TSC (NCT04285346)
- Testing
- Ganaxolone
- Where
- 7 sites in United States
- Volunteers
- 23 people
- Sponsor
- Marinus Pharmaceuticals
TSC, Behavioral Symptoms
Regulating Together in Tuberous Sclerosis Complex
The purpose of this study is to use a program called Regulating Together (RT), a remote, non-pharmacologic intervention to treat symptoms of emotion dysregulation in children and adolescents with Tuberous Sclerosis Complex (TSC)…
- Trial name
- RT (NCT06105736)
- Testing
- Behavioral Intervention in a small group platform
- Where
- 2 sites in United States
- Volunteers
- 105 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Sleep Disorder
Characterizing Sleep Disorders in Children and Adults With Tuberous Sclerosis Complex (TSC)
The proposed research project is aimed at further characterization of sleep problems and evaluation of their impact in children and adults with TSC, excluding epilepsy as contributing factor.
- Trial name
- NCT03326765
- Testing
- Questionnaires, electroencephalogram (EEG), polysomnography
- Where
- Belgium
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Universitair Ziekenhuis Brussel
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
Lymphangioleiomyomatosis (LAM), Extracellular Vesicles; Generation and Function
Role of Extracellular Vesicles as Biomarkers of Pulmonary Involvement in Patients With Lymphangioleiomyomatosis and Tuberous Sclerosis Complex
Lymphangioleiomyomatosis (LAM) is a rare lung disease, linked to Tuberous Sclerosis Complex (TSC) or occurring sporadically, and involves abnormal mTORC1 activation.
- Trial name
- NCT07304856
- Testing
- Pulmonary Function Test, Analysis of Extracellular Vesicles
- Where
- Italy
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- University of Milan
Tuberous Sclerosis Complex, Lymphangioleiomyomatosis
Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)
This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.
- Trial name
- NCT06160310
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- David M. Ritter
Tuberous Sclerosis, Lymphangioleiomyomatosis
TSC Biosample Repository and Natural History Database
The TSC Biosample Repository collects and stores samples of blood, DNA, and tissues that scientists can request to use in their research. The samples we collect are all linked to clinical data in the TSC Natural History Database.
- Trial name
- NCT05676099
- Testing
- Phlebotomy, Buccal (cheek) swab, Genetic Testing
- Where
- 26 sites in United States, Canada
- Volunteers
- 5,000 people
- Sponsor
- National Tuberous Sclerosis Association
Tuberous Sclerosis Complex
Studies in Patients With Tuberous Sclerosis Complex
This study is aimed to carry out a systematic study to examine the effects of genetic variants (genetic modifiers) other than TSC genes on phenotypic variability in familial TSC patients (affected parent, child and unaffected…
- Trial name
- NCT03276195
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Translational Genomics Research Institute