Individuals with familial TSC including those with a clinical diagnosis but no genetic confirmation and individuals with a genetic diagnosis

Individuals with sporadic TSC including those with a clinical diagnosis but no genetic confirmation and individuals with a genetic diagnosis

Participant samples for this study may include blood, urine or saliva. An optional skin biopsy may also be collected. Additional samples (such as cerebrospinal fluid, muscle biopsies, and brain tissue) can be used when they are collected as part of a clinically indicated procedure. Where possible, parents of a child will be enrolled to identify genetic variants (genetic modifiers). These and other biological relatives will be asked to donate blood samples and optional skin biopsy samples for study participation. If the relative is unable to donate a blood sample, a saliva sample can be collected instead.

Tuberous Sclerosis Complex

Translational Genomics Research Institute (TGen)

Studies in Patients With Tuberous Sclerosis Complex

Studies in Patients With Rett Syndrome, Tuberous Sclerosis Complex, Neurofibromatoses, and Other Neurodevelopmental Disorders

Identify genetic variants and disease mechanisms responsible for phenotypic variability among patients who are diagnosed with Tuberous Sclerosis Complex (TSC) and their family members.

De-identified participant study data will be published to a central data repository that allows qualified research scientists to access and look at the data under controlled access.

Translational Genomics Research Institute

United States Department of Defense

This group will be treated with everolimus 7-28 days prior to surgery

This group will be enrolled as reference subjects, and will be undergoing routine surgery as part of standard of care treatment. No intervention will be provided to these subjects as part of the study.

Epilepsy

Focal Cortical Dysplasia

This study will measure if the drug called Everolimus effects mTOR signaling (an electrical activity signal in the brain) in patients with Tuberous Sclerosis Complex (TSC) and Focal Cortical Dysplasia (FCD) with treatment resistant epilepsy (TRE) who will be undergoing brain surgery. One group of patients will be treated with Everolimus, for 7-28 days prior to epilepsy surgery and another will not. We will determine if there is a difference in mTOR signaling between the patients who were treated with Everolimus and those who were not

Everolimus

New York University Langone Medical Center

A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD

.Adverse event monitoring should be continued for at least 30 days (or 5 half-lives, whichever is longer) following the last dose of study treatment

MTor signaling is measured by peripheral VEGF-D levels, Blood and brain levels of cytokines (and TNF-α) and inflammatory proteins (HMGB1)at the time of surgery, Brain glutamate and GABA receptor expression at the time of surgery, and Blood levels of everolimus at the time of surgery

angiomyolipoma/seizures

Studies in Patients With Tuberous Sclerosis Complex

A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD

Najkompletnija baza ljekovitog bilja potpomognuta naukom