Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC

NCT01767779 | Completed

• 1 other identifier: 1P20NS080199-01
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 5

Brief Summary

To determine whether EEGs during infancy is a reliable biomarker to identify TSC patients that will develop infantile spasms/epilepsy in the near future and thus are appropriate candidates for an antiepileptogenic drug trial. Since not all patients with TSC develop epilepsy, it would be useful to have a biomarker that could predict those patients destined to have epilepsy and thus identify those TSC patients most appropriate for an antiepileptogenic drug trial. A recent study suggests that treating TSC patients with an abnormal EEG prior to onset of infantile spasms with vigabatrin may improve neurological outcome, but the use of EEG as a reliable biomarker of future epilepsy has not been rigorously validated. In this specific aim, we will test the reliability of EEG in predicting future development of infantile spasms or epilepsy in TSC patients during the first year of life.

Conditions

Tuberous Sclerosis Complex

Keywords

Epilepsy; TSC; Tuberous Sclerosis Complex; Infants; Seizures; Biomarkers; EEG

Outcome Measures

Primary Outcomes (1)

• Identification of EEG biomarkers as predictors of developing epilepsy in infants with Tuberous Sclerosis Complex

  Physical/neurological exam, Video EEG, Developmental assessments, Blood draw from child and parents/guardian, and Seizure diaries.

  3 years

Study Arms (2)

seizure free infants with dx of TSC

infants that are seizure free at the time of the study enrollment and meets genetic or clinical diagnostic criteria for TSC

Parents or family guardian of cohort 1

Parent or family guardian of infants that are seizure free at the time of the study enrollment and meets genetic or clinical diagnostic criteria for TSC.

Eligibility Criteria

• Age: 1 Day - 6 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Infants that are seizure free at the time of the study enrollment and meets genetic or clinical diagnostic criteria for TSC (determined as standard of care); parent/family guardian health status is unknown

You may qualify if:

• Cohort 1
• \< 6 months of age; Seizure free at the time of study enrollment; and meets genetic or clinical diagnostic criteria for TSC (Tuberous Sclerosis), the latter based on current recommendations for diagnostic evaluation, such as physical exam, neuroimaging, echocardiogram.
• Cohort 2
• Parent or family guardian of infant

You may not qualify if:

• Cohort 1
• ≥ 6months of age; history of seizures and/or infantile spasms; patients receiving vigabatrin or any anti-epileptic medication or mTOR inhibitor prior to study enrollment Cohort 2
• not parent or family guardian

Sponsors & Collaborators

• University of Alabama at Birmingham: lead
• Children's Hospital Medical Center, Cincinnati: collaborator
• The University of Texas Health Science Center, Houston: collaborator
• University of California, Los Angeles: collaborator
• Boston Children's Hospital: collaborator

Study Sites (5)

University of Alabama at Birmingham

Birmingham, Alabama, 35294, United States

Location

UCLA

Los Angeles, California, 90095, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

Cincinnati Children's Hospital

Cincinnati, Ohio, 45229, United States

Location

University of Texas in Houston

Houston, Texas, 77030, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

A single venous blood sample will be drawn from the child and parents/family guardian for future research studies and future genetic testing

MeSH Terms

Conditions

Tuberous Sclerosis; Epilepsy; Seizures

Condition Hierarchy (Ancestors)

Hamartoma; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Nervous System Diseases; Neurocutaneous Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Brain Diseases; Central Nervous System Diseases; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Martina Bebin, MD

  University of Alabama at Birmingham

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor of Neurology

Study Record Dates

• First Submitted: January 7, 2013
• First Posted: January 14, 2013
• Study Start: September 1, 2012
• Primary Completion: December 1, 2016
• Study Completion: December 1, 2018
• Last Updated: April 11, 2019

Record last verified: 2019-04

Locations

US (5)