Clinical trials: Tuberous Sclerosis
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
Chronic Kidney Disease, Proteinuria
A Smart Phone Application to Improve Adoption of the 2024 Kidney Disease Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) Guidelines
The goal of this study is to establish whether use of a digital intervention can improve adherence and alignment with the Kidney Disease: Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) 2024 Guidelines.
- Conditions
- Chronic Kidney Disease, Proteinuria, Blood Pressure Control, Congenital Anomalies of the Kidneys and Urinary Tract
- Trial name
- NCT07561957
- Testing
- Use of an electronic digital Application
- Where
- 2 sites in Ireland
- Volunteers
- 80 people
- Sponsor
- St. James's Hospital, Ireland
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
Relapsing-remitting Multiple Sclerosis
Safety, Tolerability, Efficacy and Optimal Dose Finding Study of BAF312 in Patients With Relapsing-remitting Multiple Sclerosis
The purpose of this study was to determine the dose-response curve for the MRI-based efficacy of BAF312 compared with placebo in patients with Relapsing-Remitting Multiple Sclerosis (RRMS), and to characterize its safety and…
- Trial name
- NCT00879658
- Testing
- BAF312
- Where
- 72 sites in United States, Canada and 10 more
- Volunteers
- 297 people
- Sponsor
- Novartis Pharmaceuticals
Hypomelanotic Macules, Facial Angiofibroma
Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
International, multicenter, observational, longitudinal study to identify biomarker/s for Tuberous Sclerosis Complex and to explore the clinical robustness, specificity, and long´-term variability of these biomarker/s
- Conditions
- Hypomelanotic Macules, Facial Angiofibroma, Shagreen Patches, Ungual Fibromas
- Trial name
- TuScCom (NCT02654340)
- Where
- 8 sites in Albania, Egypt and 6 more
- Volunteers
- 20 people
- Sponsor
- CENTOGENE GmbH Rostock
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, Lymphangioleiomyomatosis
Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM
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.
- Trial name
- TESSTAL (NCT00490789)
- Testing
- sirolimus
- Where
- 3 sites in United Kingdom
- Volunteers
- 14 people
- Sponsor
- Cardiff University
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.
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
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
Tuberous Sclerosis Complex (TSC)
Observational, Retrospective, Multicenter, Nonprofit Study on the Prevalence of Renal Involvement in Pediatric Patients With Tuberous Sclerosis
Observational, retrospective, multicenter, nonprofit study on the prevalence of renal involvement in pediatric patients with tuberous sclerosis.
- Trial name
- NCT06764602
- Where
- Italy
- Volunteers
- 80 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Developmental and Epileptic Encephalopathy, Dravet Syndrome
Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
The objective of this study is to assess the long-term safety, tolerability, and efficacy of adjunctive therapy of LP352 in subjects with developmental and epileptic encephalopathies who completed participation in Study LP352-201.
- Conditions
- Developmental and Epileptic Encephalopathy, Dravet Syndrome, Lennox-Gastaut Syndrome
- Trial name
- NCT05626634
- Testing
- LP352, bexicaserin
- Where
- 28 sites in United States, Australia
- Volunteers
- 41 people
- Sponsor
- Longboard Pharmaceuticals
Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs.
- Conditions
- Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract, Neuroendocrine Neoplasm of Lung, Thymic Neuroendocrine Neoplasm
- Trial name
- NCT06523582
- Where
- 3 sites in Mexico
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- Universidad Nacional Autonoma de Mexico
Epilepsy, Dravet Syndrome
Turmeric as Treatment in Epilepsy
This is a single center open-label pilot clinical trial of patients 1-70 years of age with greater than 6 seizures per month diagnosed with Dravet Syndrome, Lennox-Gastaut Syndrome, Tuberous Sclerosis, or focal seizures.
- Conditions
- Epilepsy, Dravet Syndrome, Lennox-Gastaut Syndrome, Tuberous Sclerosis
- Trial name
- NCT03254680
- Testing
- Turmeric
- Where
- United States
- Sponsor
- NYU Langone Health
Multiple Sclerosis, Postural Balance
Motor-cognitive Performance in People With Multiple Sclerosis
Having a neurological disease such as multiple sclerosis (MS) leads to difficulties in balance and gait with or without concurrent performance of cognitive tasks, hindering activity performance and influencing the possibilities…
- Trial name
- HiBalance-MS (NCT06312046)
- Testing
- HiBalance-MS
- Where
- Sweden
- Volunteers
- 90 people
- Sponsor
- Karolinska Institutet
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
- 11 sites in United States
- Volunteers
- 64 people
- Sponsor
- Darcy Krueger
TSC
TSC Remote Assessment and Intervention
The investigators propose a study to adapt an evidence-based caregiver training program to improve access in order to better serve the TSC community.
- Trial name
- TRAIN (NCT04698538)
- Testing
- JASPER
- Where
- United States
- Volunteers
- 54 people
- Sponsor
- University of California, Los Angeles
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
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
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