Clinical trials: Tuberous Sclerosis Complex
Complex Partial Seizures
Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients
This is an open-label, phase 4 study to examine the safety and efficacy of vigabatrin (Sabril) in Tuberous Sclerosis patients, a subset of the larger refractory complex partial epilepsy population for which the drug is approved.
- Trial name
- STARS (NCT01266291)
- Testing
- vigabatrin
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Pennsylvania
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 Complex, Aspirin
Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex
There had been much evidence in aspirin controlling tumorous conditions conducted by basic researches, especially through mammilian target of rapamycin (mTOR) pathway.
- Conditions
- Tuberous Sclerosis Complex, Aspirin, Epilepsy, Cognitive Decline
- Trial name
- NCT03356769
- Testing
- Aspirin, AED
- Where
- China
- Volunteers
- 98 people
- Sponsor
- Peking Union Medical College Hospital
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
Epilepsy, Tuberous Sclerosis Complex
Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC)
The goal of this study is to learn if the study drug RAD001 can reduced the number of epileptic seizures, and can be taken safety by people who have epilepsy associated with Tuberous Sclerosis Complex.
- Trial name
- NCT01070316
- Testing
- Everolimus
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Facial Angiofibroma
Topical Rapamycin and Calcitriol for Angiofibroma of Tuberous Sclerosis
The aim of the study is to determine the effect and safety of topical rapamycin or calcitriol and their combination for the treatment of TSC-associated facial angiofibroma.
- Trial name
- NCT03140449
- Testing
- Rapamycin, Calcitriol, Rapamycin-calcitriol combination
- Volunteers
- 52 people
- Sponsor
- National Taiwan University Hospital
Tuberous Sclerosis, Angiofibroma
Phase III Trial of Topical Formulation of Sirolimus to Skin Lesions in Patients With Tuberous Sclerosis Complex (TSC)
The purpose of this trial is to evaluate the efficacy and safety of NPC-12G gel (topical formulation of sirolimus) versus placebo gel to facial angiofibroma and other skin lesions in patients with tuberous sclerosis complex (TSC)
- Conditions
- Tuberous Sclerosis, Angiofibroma, Hypomelanotic Macule, Plaque
- Trial name
- NCT02635789
- Testing
- NPC-12G gel
- Where
- Japan
- Volunteers
- 62 people
- Sponsor
- Nobelpharma
Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis
Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
The purpose of this study is to evaluate the effectiveness of an adapted, telehealth functional behavioral therapy (FBTsIDD) specifically focused on promoting appropriate communication and behavioral strategies in individuals…
- Conditions
- Telomeric 22Q13 Monosomy Syndrome, Tuberous Sclerosis, Hamartoma Syndrome, Multiple, Fragile X Syndrome
- Trial name
- NCT06139172
- Testing
- Functional Behavioral Training (FBT), Positive Parenting Strategies-Treatment as Usual
- Where
- United States
- Volunteers
- 79 people
- Sponsor
- Rush University Medical Center
Tuberous Sclerosis Complex
Clinical Study of NPC-12Y Gel in Patients With Skin Lesions Associated With TSC
The purpose of this study is to investigate the efficacy and safety of NPC-12Y gel compared with placebo for skin lesions associated with tuberous sclerosis.
- Trial name
- NCT05495425
- Testing
- NPC-12Y gel
- Where
- 5 sites in Japan
- Volunteers
- 43 people
- Sponsor
- Nobelpharma
Periodontal Disease, Periodontitis
Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)
This study aims to evaluate the burden and phenotypic spectrum of periodontal disease in patients with rare kidney disorders (such as Alport syndrome, Fabry disease, and tuberous sclerosis complex) and systemic lupus…
- Conditions
- Periodontal Disease, Periodontitis, CKD, Chronic Kidney Disease
- Trial name
- PERIO-RA-RE (NCT07575347)
- Testing
- Observational assessment
- Where
- Romania
- Volunteers
- 100 people
- Sponsor
- Stefan Lujinschi
Malignant PEComa (Perivascular Epithelioid Cell Tumors)
A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa
Study objectives: The primary objective is to determine the efficacy of BEZ235 on Objective Response Rate (best response on study) according to RECIST 1.1 criteria The secondary objectives are: To determine the progression free…
- Trial name
- NCT01690871
- Testing
- BEZ235
- Where
- Spain
- Sponsor
- Novartis Pharmaceuticals
Lymphangioleiomyomatosis, Tuberous Sclerosis Complex
Feasibility of [11C]Acetate-PET in LAM and TSC
This study aims to assess [11C]acetate positron emission tomography (PET)/computed tomography (CT) as a biomarker for renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM) and an early biomarker of response to…
- Trial name
- NCT05467397
- Testing
- [11C]acetate
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Brigham and Women's Hospital
Tumor, Tumor, Solid
Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
A Phase 2 multi-center open-label basket trial of nab-sirolimus for adult and adolescent patients with malignant solid tumors harboring pathogenic inactivating alterations in TSC1 or TSC2 genes
- Conditions
- Tumor, Tumor, Solid, Metastasis, Metastatic Cancer
- Trial name
- NCT05103358
- Testing
- nab-sirolimus
- Where
- 166 sites in United States, Puerto Rico and 1 more
- Volunteers
- 128 people
- Sponsor
- Aadi Bioscience, Inc.
Tuberous Sclerosis, STXBP1 Encephalopathy With Epilepsy
Gait in Rare Diseases
The aim of this pilot study is to explore whether the knowledge and experience gained during the T-GaiD project (Treatment of Gait Disorders in Dravet Syndrome - NCT03857451) can be transferred to other populations with similar…
- Trial name
- GAGA (NCT05161494)
- Where
- Belgium
- Volunteers
- 41 people
- Sponsor
- Universiteit Antwerpen
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
Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France
This study aims to investigate the factors (clinical, care-related and genetic) affecting renal outcome in patients with TSC (Tuberous sclerosis complex)
- Trial name
- TSAR (NCT02887781)
- Where
- 2 sites in France
- Volunteers
- 150 people
- Sponsor
- University Hospital, Brest
Nonmalignant Neoplasm, Tuberous Sclerosis
RAPAMYCIN FOR KIDNEY ANGIOMYOLIPOMAS
This research study is evaluating a drug called rapamycin as a possible treatment for the lumps (or tumors) that form in the kidneys, called angiomyolipomas, in people who have either TSC or LAM.
- Conditions
- Nonmalignant Neoplasm, Tuberous Sclerosis, Lymphangioleimyomatosis, Kidney Angiomyolipoma
- Trial name
- NCT00126672
- Testing
- Rapamycin
- Where
- 7 sites in United States
- Volunteers
- 36 people
- Sponsor
- Dana-Farber Cancer Institute
Tuberous Sclerosis, Angiofibroma
Long-term Trial of Topical Sirolimus to Angiofibroma in Patient With Tuberous Sclerosis Complex
The purpose of this trial is to evaluate the safety and efficacy of long-term treatment with NPC-12G gel (0.2% sirolimus gel) to angiofibroma and other skin lesions in patients with tuberous sclerosis complex in the open-label…
- Conditions
- Tuberous Sclerosis, Angiofibroma, Hypomelanotic Macule, Plaque
- Trial name
- NCT02634931
- Testing
- NPC-12G gel
- Where
- Japan
- Volunteers
- 94 people
- Sponsor
- Nobelpharma
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
Neurofibromatosis Type I, Tuberous Sclerosis Complex
The Cognitive Variability in NF1 and TSC Monozygotic Twins
Both Neurofibromatosis type 1 (NF1) and Tuberous Sclerosis Complex (TSC) are highly heterogeneous diseases. Cognitive features seem to vary widely even between family members carrying the same mutation.
- Trial name
- COVANTT (NCT02436746)
- Where
- Netherlands
- Volunteers
- 116 people
- Sponsor
- Erasmus Medical Center