Clinical trials: Tuberous Sclerosis Complex (TSC)
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, 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
Autism, Tuberous Sclerosis
Studies of Autistic Patients: Gene Networks and Clinical Subtypes
Background: Researchers who are studying autism spectrum disorders are interested in developing a collection of research samples from both children with autism and healthy individuals, some of whom may be related to the children…
- Trial name
- NCT01092208
- Where
- United States
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
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, Neurofibromatoses
Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1)
This study is a prospective, randomized, double-blind, placebo-controlled evaluation of the safety of a topically applied formulation of rapamycin to cutaneous fibromatous lesions in subjects with Tuberous Sclerosis Complex (TSC)…
- Conditions
- Tuberous Sclerosis, Neurofibromatoses, Angiofibroma, Neurofibroma
- Trial name
- NCT01031901
- Testing
- Skincerity, Skincerity plus sirolimus/rapamycin, Skinercity plus sirolimus/rapamycin
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston
Sleep Disorder
Characterizing Sleep Disorders in Children and Adults With Tuberous Sclerosis Complex (TSC)
The proposed research project is aimed at further characterization of sleep problems and evaluation of their impact in children and adults with TSC, excluding epilepsy as contributing factor.
- Trial name
- NCT03326765
- Testing
- Questionnaires, electroencephalogram (EEG), polysomnography
- Where
- Belgium
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Universitair Ziekenhuis Brussel
Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia
Study to Evaluate the Pharmacokinetics and Safety Effects Following Coadministration of Carbamazepine or Itraconazole With Radiprodil in Healthy Adults
This is a Phase 1, open-label, 2-part study to evaluate the effect of multiple doses of oral carbamazepine or oral itraconazole on the plasma pharmacokinetic profile of radiprodil in healthy adult participants.
- Conditions
- Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia, Other Neurological Disorders
- Trial name
- NCT06965881
- Testing
- Radiprodil with Carbamazepine, Radiprodil with Itraconazole
- Where
- 2 sites in Australia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- GRIN Therapeutics, Inc.
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
Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia
Phase 1, Open-label, Drug-drug Interaction Study to Assess Effect Between Radiprodil and the Co-administered Drugs.
This is a Phase 1, open-label, 3-period study to determine radiprodil's potential to act as a perpetrator of cytochrome P-450 (CYP) metabolic pathways and transporter pathways.
- Conditions
- Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia, Other Neurological Disorders
- Trial name
- NCT06975605
- Testing
- Radiprodil + co-administered drugs
- Where
- Australia
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- GRIN Therapeutics, Inc.
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
Lymphangioleiomyomatosis, Tuberous Sclerosis Complex
Lymphangioleiomyomatosis, a Study on Cathepsin K
This is a physiopathological case-control, non-interventional, monocentric study of adult patients with lymphangioleiomyomatosis.
- Trial name
- LAM-CAK (NCT05323370)
- Testing
- 24h urine, urine sample
- Where
- France
- Volunteers
- 19 people, healthy volunteers welcome
- Sponsor
- University Hospital, Tours
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)
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