A study to validate the assay of biomarkers of the mTOR signalling pathway (p-S6RP(Ser240/244) for mTORC1 and p-AKT (Ser473) for mTORC2) and other non-genetic biomarkers in whole blood samples from patients with tuberous sclerosis complex (TSC): Biomarkers in Patients with Tuberous Sclerosis (BioPaTS)

Aeovian Pharmaceuticals Inc.0 sites14 target enrollmentSeptember 9, 2022

Overview

No summary available.

Registry

who.int

Start Date

September 9, 2022

End Date

February 28, 2023

Last Updated

2 years ago

Study Type

Observational

Sex

All

Sponsor

•1\. Patients who are able to provide written informed consent appropriate to age/local law \- patient and/or parent(s)/legal representative who are willing and able to give informed consent/assent for participation in the study
•2\. Patients who have a definite diagnosis of tuberous sclerosis complex (TSC) according to the Updated International Tuberous Sclerosis Complex Diagnostic Criteria (Paediatric Neurology 123 (2021\)
•3\. Patients who are male or female aged 10 to 65 years
•4\. All medications or interventions for epilepsy (including ketogenic diet and any neurostimulation devices for epilepsy) must have been stable for 4 weeks prior to the screening visit

•1\. Patients with a history of pseudo\-seizures
•2\. Patients with clinically significant unstable medical conditions other than epilepsy
•3\. Patients who have a serious intercurrent illness or uncontrolled disease that could compromise the interpretation of the data from this study
•4\. Patients who have received treatment with felbamate, unless continuous for \>1 year
•5\. Patients who have received any other investigational product within the 30 days prior to the screening visit
•6\. Patients who are unlikely to comply with the requirements of this study