Clinical trials: Tuberous Sclerosis Complex, open to volunteers
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
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, 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
Prader-Willi Syndrome, PWS-like Syndrome
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome.
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism
- Trial name
- GROW UR GENES (NCT04463316)
- Testing
- Retrospective file studies
- Where
- Netherlands
- Volunteers
- 600 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
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
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
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
Tuberous Sclerosis
Study of Skin Tumors in Tuberous Sclerosis
Tuberous sclerosis is a rare, hereditary disease in which patients develop multiple tumors. Although not cancerous, the tumors can affect various organs, including the heart, lungs, kidneys, skin, and central nervous system, with…
- Trial name
- NCT00001975
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Adult Caregivers of Individuals With TSC, Tuberous Sclerosis Complex (TSC)
TANDem-2: Closing the Gap to Interventions for TAND
The goal of this pilot study is to determine the feasibility, acceptability and impact of a brief behavioral intervention - the "Well-Beans for Caregivers" program, for adult caregivers of individuals with tuberous sclerosis…
- Trial name
- TANDem-2 (NCT06879665)
- Testing
- Well-Beans for Caregivers Program
- Where
- 2 sites in United States, Australia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Vrije Universiteit Brussel
Quality of Life, Ichthyosis
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling
The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of…
- Conditions
- Quality of Life, Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa
- Trial name
- NCT06330350
- Testing
- Qualitative interview
- Where
- Netherlands
- Volunteers
- 25 people
- Sponsor
- Maastricht University Medical Center
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)
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
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 (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
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
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
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
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
Drug-resistant Focal Epilepsies in Pediatric Population
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Brain somatic mutations are increasingly recognized as a major cause of focal epilepsies. These include mTOR pathway mutations underlying cortical malformations such as focal cortical dysplasia and hemimegalencephaly, and SLC35A2…
- Trial name
- GENEPHY (NCT02890641)
- Testing
- Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
- Where
- France
- Volunteers
- 450 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Focal Cortical Dysplasia, Tuberous Sclerosis Complex (TSC)
Safety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME)
This is a multinational, open-label, single-arm trial of adjunctive SVG103 (paxalisib) treatment in adults with FCD-II, TSC, and HME.
- Conditions
- Focal Cortical Dysplasia, Tuberous Sclerosis Complex (TSC), Hemimegalencephaly
- Trial name
- NCT07287202
- Testing
- SVG103
- Where
- 2 sites in Australia
- Volunteers
- 12 people
- Sponsor
- Sovargen