Clinical trials: Tuberous Sclerosis
Lung Disease, Pneumothorax
Study of the Disease Process of Lymphangioleiomyomatosis
Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor.
- Conditions
- Lung Disease, Pneumothorax, Tuberous Sclerosis, Lymphangioleiomyomatosis
- Trial name
- NCT00001465
- Testing
- Toshibia Aquilion One CT
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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)
Tuberous Sclerosis Complex, Epilepsy
Stopping TSC Onset and Progression 2B: Sirolimus TSC Epilepsy Prevention Study
This trial is a Phase II randomized, double-blind, placebo controlled multi-site study to evaluate the safety and efficacy of early sirolimus to prevent or delay seizure onset in TSC infants.
- Trial name
- TSC-STEPS (NCT05104983)
- Testing
- Sirolimus
- Where
- 8 sites in United States
- Volunteers
- 64 people
- Sponsor
- Darcy Krueger
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 Complex
Efficacy and Safety of Rapamycin Versus Vigabatrin in the Prevention of Tuberous Sclerosis Complex Symptoms in Infants
The purpose of the study is to evaluate the efficacy, tolerability, and safety of vigabatrin versus rapamycin as a preventive treatment in infants with Tuberous Sclerosis Complex (TSC).
- Trial name
- ViRap (NCT04987463)
- Testing
- Vigabatrin, Rapamycin
- Where
- 2 sites in Poland
- Volunteers
- 60 people
- Sponsor
- Katarzyna Kotulska
Tuberous Sclerosis Complex
Placebo Controlled Study to Assess the Efficacy and Safety of Rapamycin in Drug Resistant Epilepsy Associated With Tuberous Sclerosis Complex
The purpose of the RaRE-TS study is to determine safety, tolerability and efficacy of rapamycin versus placebo in a drug resistant epilepsy associated with tuberous sclerosis complex (TSC).
- Trial name
- RaRE-TS (NCT05534672)
- Testing
- Rapamycin
- Where
- 2 sites in Poland
- Volunteers
- 200 people
- Sponsor
- Katarzyna Kotulska
Epilepsy
ESIS in Pediatric DRE
The main reason for this research study is to gain information about how the brain makes seizures by causing seizures using very small amounts of current, or electrical stimulation.
- Trial name
- NCT05469373
- Where
- United States
- Volunteers
- 86 people
- Sponsor
- Sarah Katie Ihnen
Tuberous Sclerosis Complex, Epilepsy
Safety and Efficacy of AV078 in Participants With Tuberous Sclerosis Complex (TSC) Refractory Epilepsy (RESTOR-1)
This Phase 2, randomized, double-blind, placebo-controlled study will evaluate the safety, tolerability, and efficacy of oral AV078 in participants with refractory epilepsy due to tuberous sclerosis complex (TSC).
- Trial name
- RESTOR-1 (NCT07680322)
- Testing
- AV078
- Where
- Canada
- Volunteers
- 42 people
- Sponsor
- Aeovian Pharmaceuticals, Inc.
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
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
Epilepsy, Dravet Syndrome
A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants With Developmental and/or Epileptic Encephalopathies
The purpose of this study is to investigate the effect on the frequency of all seizures (convulsive and drop) in participants treated with TAK-935 compared to placebo.
- Conditions
- Epilepsy, Dravet Syndrome, Lennox-Gastaut Syndrome
- Trial name
- ELEKTRA (NCT03650452)
- Testing
- TAK-935
- Where
- 44 sites in United States, Australia and 6 more
- Volunteers
- 141 people
- Sponsor
- Takeda
Lennox Gastaut Syndrome, Dravet Syndrome
Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution
This study will monitor for potential chronic liver injury and liver fibrosis, in participants treated with cannabidiol oral solution.
- Conditions
- Lennox Gastaut Syndrome, Dravet Syndrome, Tuberous Sclerosis Complex
- Trial name
- NCT05044819
- Testing
- Cannabidiol
- Where
- 26 sites in United States
- Volunteers
- 154 people
- Sponsor
- Jazz Pharmaceuticals
Tuberous Sclerosis Complex
Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment
The purpose of this study is to evaluate the long-term safety in patients with TSC and refractory seizures who are currently receiving everolimus treatment in the Novartis-sponsored EXIST-3 study and who are determined to be…
- Trial name
- NCT02962414
- Testing
- everolimus
- Where
- 67 sites in United States, Australia and 16 more
- Volunteers
- 206 people
- Sponsor
- Novartis Pharmaceuticals
Tuberous Sclerosis, Autism Disorder
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
The purpose of this study is to characterize the developmental phenotype of ASD and ID and to identify biomarkers using advanced MRI methodology and electrophysiological biomarkers of synaptic function and connectivity predictive…
- Conditions
- Tuberous Sclerosis, Autism Disorder, Intellectual Disability
- Trial name
- NCT02461459
- Where
- 6 sites in United States
- Volunteers
- 205 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Neurodevelopmental Disorders, Autism
Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
There are currently no approved medications for the treatment of anxiety in children and youth with neurodevelopmental disorders (NDDs), both common and rare.
- Conditions
- Neurodevelopmental Disorders, Autism, Autism Spectrum Disorder, Fragile X Syndrome
- Trial name
- CALM (NCT06081348)
- Testing
- Sertraline
- Where
- 7 sites in Canada
- Volunteers
- 130 people
- Sponsor
- Holland Bloorview Kids Rehabilitation Hospital
Tuberous Sclerosis Complex
Early Behavioral Intervention to Improve Social Communication Function in Infants With Tuberous Sclerosis Complex
The investigators are running an intervention study for young children with Tuberous Sclerosis Complex (TSC). The study will include free play-based behavioral intervention that may improve social and communication skills in…
- Trial name
- NCT02687633
- Testing
- JASPER
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of California, Los Angeles
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
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
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
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital