Predicting Epileptogenic Tubers in Patients with Tuberous Sclerosis Complex

Predicting Epileptogenic Tubers in Patients with Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging because ETs lack distinct pathological or genetic markers that differentiate them from other cortical tubers. Approximately 60% of patients fail to have their ETs identified through noninvasive preoperative evaluations, highlighting the clinical need for an efficient, noninvasive ET localization method.

Using MRI data from training datasets, we developed a novel noninvasive fusion model that combines a risk model based on lesion network mapping with a prediction model using brain functional connectivity and random forest algorithms. A retrospective analysis was conducted on TSC patients with epilepsy who underwent resective surgery. Tubers were classified as true-ETs, false-ETs, or true non-ETs based on resection locations and postoperative seizure-freedom. The model calculated and ranked the ET probability for each tuber for every patient, and its accuracy was assessed based on postoperative seizure outcomes.

Study Overview

• Status: Completed
• Conditions: Tuberous Sclerosis Complex

• Study Type: Observational
• Enrollment (Actual): 112

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

(1) male or female patients aged ≥6 months; (2) patients meeting the diagnostic criteria for TSC according to Northrup's guidelines;17 (3) patients in whom the clinical evaluation determined that a single surgical target, or hypothesized primary EZ, was identified by a multidisciplinary specialist team at epilepsy centers of Beijing Children's Hospital, PLA General Hospital, or Shenzhen Children's Hospital in China; (4) patients who underwent resective surgery between July 2016 and June 2023, with a 1-year follow-up completed by June 2024; and (5) availability of patients with available preoperative and postoperative MRI T2-Flair imaging.

Exclusion Criteria:

• (1) patients with a history of craniotomy, serious head injury, neuromodulation therapy, or corpus callosotomy before or within one year after the resective surgery; and (2) subjects lacking key clinical or MRI data. This study was approved by the Ethics Commission of Beijing Children's Hospital.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
TSC

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
seizure freedom after surgery	From enrollment to the end of treatment at 1 year

Collaborators and Investigators

• Sponsor: Beijing Children's Hospital

Study record dates

Study Major Dates

• Study Start (Actual): July 1, 2016
• Primary Completion (Actual): June 1, 2023
• Study Completion (Actual): June 1, 2023

Study Registration Dates

• First Submitted: January 17, 2025
• First Submitted That Met QC Criteria: January 17, 2025
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: January 17, 2025
• Last Verified: June 1, 2023

More Information

Terms related to this study

• Keywords: TSC; TSC MRI
• Additional Relevant MeSH Terms: Nervous System Diseases; Pathologic Processes; Neoplasms; Genetic Diseases, Inborn; Neurodegenerative Diseases; Congenital Abnormalities; Heredodegenerative Disorders, Nervous System; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Hamartoma; Neoplasms, Multiple Primary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Sclerosis; Tuberous Sclerosis
• Other Study ID Numbers: TSC-MRI

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No