Clinical trials: TSC
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, Epilepsy
The Effectiveness and Safety of Resective Epilepsy Surgery for TRE
A prospective cohort studies to identify clinical seizure control, cognitive changes, and safety in resective epilepsy surgery in patients with TSC-related drug-resistant epilepsy.
- Trial name
- NCT04198181
- Testing
- Surgery
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Beijing Children's Hospital
Angiofibromas, Tuberous Sclerosis
Topical Rapamycin to Erase Angiofibromas in TSC
The study is a multi-center prospective, randomized, double-blind, placebo-controlled evaluation of the safety and efficacy of a topically applied formulation of rapamycin to cutaneous angiofibromas in subjects with Tuberous…
- Trial name
- Treatment (NCT01526356)
- Testing
- Rapamycin
- Where
- 10 sites in United States, Australia
- Volunteers
- 179 people
- Sponsor
- The University of Texas Health Science Center, Houston
Tuberous Sclerosis Complex
Preventing Epilepsy Using Vigabatrin In Infants With Tuberous Sclerosis Complex
Study design is a Phase IIb prospective multi-center, randomized, placebo-controlled, double-blind clinical trial. The goal will be to enroll 80 infants with Tuberous Sclerosis Complex who are less than 6 months of age prior to…
- Trial name
- NCT02849457
- Testing
- Early Vigabatrin
- Where
- 13 sites in United States
- Volunteers
- 84 people
- Sponsor
- Martina Bebin
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
Sleep Problems
Assessment of the Pharmacokinetics of Circadin® in Children With Neurodevelopmental Disorders and Sleep Disturbances
There is increasing evidence that chronic sleep disorders in children with autism spectrum disorder (ASD), Angelman Syndrome (AS) and Smith-Magenis syndrome (SMS) are associated with disturbed melatonin secretion and melatonin…
- Trial name
- NCT01903681
- Testing
- Circadin 2 mg, Circadin 10 mg
- Where
- Netherlands
- Volunteers
- 16 people
- Sponsor
- Neurim Pharmaceuticals Ltd.
Tuberous Sclerosis Complex
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship
Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction…
- Trial name
- NCT04112537
- Where
- France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Montpellier
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)
Tuberous Sclerosis Complex, Epilepsy
The Effectiveness and Safety of Vagus Nerve Stimulation for TRE
Prospective cohort studies to identify clinical epilepsy control, cognitive changes, and safety of VNS in patients with tuberous sclerosis complex-related epilepsy.
- Trial name
- NCT04198207
- Where
- China
- Volunteers
- 70 people
- Sponsor
- Beijing Children'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.
Facial Angiofibroma, Tuberous Sclerosis
Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex
The study aims to compare the safety and efficacy of two different strengths of Rapamycin cream, topical and placebo over 26 weeks in the treatment of facial angiofibroma (FA) associated with Tuberous Sclerosis Complex (TSC).
- Trial name
- NCT03826628
- Testing
- rapamycin
- Where
- 17 sites in United States, Australia and 7 more
- Volunteers
- 107 people
- Sponsor
- Dermatology Specialties Limited Partnership
Tuberous Sclerosis Complex, Self-injury
Rapalogues for Autism Phenotype in TSC: A Feasibility Study
The purpose of this study is to assess the feasibility and safety of administering rapalogues, sirolimus or everolimus, in participants with Tuberous Sclerosis Complex (TSC) and self-injury and to measure cognitive and behavioral…
- Conditions
- Tuberous Sclerosis Complex, Self-injury, Autism
- Trial name
- RAPT (NCT01929642)
- Testing
- Sirolimus, Everolimus
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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
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
Seizure in Participants With Tuberous Sclerosis Complex, Seizure in Participants With Dravet Syndrome
Assessment of Adjunctive Cannabidiol Oral Solution (GWP42003-P) in Children With Tuberous Sclerosis Complex (TSC), Dravet Syndrome (DS), or Lennox-Gastaut Syndrome (LGS) Who Experience Inadequately-controlled Seizures
This study will be conducted to evaluate the safety, pharmacokinetics (PK), and efficacy of adjunctive GWP42003-P in participants < 2 years of age with tuberous sclerosis complex (TSC), Lennox-Gastaut syndrome (LGS), or Dravet…
- Conditions
- Seizure in Participants With Tuberous Sclerosis Complex, Seizure in Participants With Dravet Syndrome, Seizure in Participants With Lennox-Gastaut Syndrome
- Trial name
- NCT04485104
- Testing
- GWP42003-P
- Where
- 11 sites in United States, Italy and 1 more
- Volunteers
- 3 people
- Sponsor
- Jazz Pharmaceuticals
TSC, Tuberous Sclerosis Complex
Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex
The primary objective of clinical part of EPISTOP project is to identify the clinical and molecular biomarkers of epileptogenesis in a prospective clinical study of patients with TSC.
- Conditions
- TSC, Tuberous Sclerosis Complex, Epilepsy
- Trial name
- EPISTOP (NCT02098759)
- Testing
- epilepsy early diagnosis protocol
- Where
- 9 sites in Austria, Belgium and 6 more
- Volunteers
- 100 people
- Sponsor
- Sergiusz Jozwiak
Tuberous Sclerosis Complex
Open-label Study of Adjunctive GNX Treatment in Children and Adults With TSC-related Epilepsy
This is a Phase 3, global, open-label extension (OLE) study of adjunctive GNX treatment in children and adults with TSC who previously participated in either Study 1042-TSC-3001 or Study 1042-TSC-2001
- Trial name
- NCT05604170
- Testing
- Ganaxolone
- Where
- 54 sites in United States, Australia and 8 more
- Volunteers
- 117 people
- Sponsor
- Marinus Pharmaceuticals
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
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
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.