View clinical trials related to Tuberous Sclerosis.
Filter by:The objective of this study is to evaluate the safety and efficacy of sirolimus (0.2% and 0.4% formulations) and its vehicle when applied topically once daily for 12 weeks for the treatment of cutaneous angiofibromas in pediatric subjects with tuberous sclerosis complex (TSC).
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
This is an open-label, phase 4 study to examine the safety and efficacy of vigabatrin (Sabril) in Tuberous Sclerosis patients, a subset of the larger refractory complex partial epilepsy population for which the drug is approved. While enrolled on this trial, subjects will continue to take all of their normally prescribed medications, including their other antiepileptic drugs (AEDs). Alternatively, there is a prospective observational arm that subjects who are about to take Sabril as treatment for seizures associated with Tuberous Sclerosis may join. Subjects who join this arm will not have any study visits and will not be asked to do anything specifically for the study. The study team will collect all study data from subjects' medical records only.
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 with autism. - The genetic condition tuberous sclerosis, which can cause the growth of benign tumors in the brain and other parts of the body, is also linked with autism. Researchers have been able to determine the specific genetic mutations involved in tuberous sclerosis, and as a result are interested in studying the genetic information of children who have both tuberous sclerosis and autism, as well as tuberous sclerosis without autism. Objectives: - To develop a collection of DNA samples from blood and skin samples taken from children with autism and/or tuberous sclerosis, as well as healthy volunteers. Eligibility: - Children between 4 to 18 years of age who have autism and/or tuberous sclerosis, or are healthy volunteers. - Some of the healthy volunteers will be siblings of children with autism. Design: - Participants will be screened with a medical history and a physical examination, and may also have a genetic evaluation. - Participants will provide a blood sample and a skin biopsy for further study. - No treatment will be provided as part of this protocol.