Early Biomarkers of Autism in Infants With Tuberous Sclerosis Complex (TSC)
Longitudinal Study to Identify Early Biomarkers of Autism Spectrum Disorder (ASD) in Infants With Tuberous Sclerosis Complex (TSC)
2 other identifiers
observational
166
1 country
5
Brief Summary
The investigators are enrolling 3-12 month old infants with a diagnosis of tuberous sclerosis complex (TSC) for a new study on early markers of autism. The study is looking for early signs for autism in a population (TSC) where autism is common. The goal of this project is to use behavioral testing, MRI and EEG techniques to identify children at risk for developing autism starting at 3 months of age and continuing until 36 months of age. Throughout the study, the investigators will recommend Early Intervention services for any child who shows early signs of autism.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Jan 2013
Longer than P75 for all trials
5 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
January 1, 2013
CompletedFirst Submitted
Initial submission to the registry
January 28, 2013
CompletedFirst Posted
Study publicly available on registry
January 31, 2013
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2019
CompletedStudy Completion
Last participant's last visit for all outcomes
December 1, 2020
CompletedFebruary 4, 2021
February 1, 2021
6.9 years
January 28, 2013
February 2, 2021
Conditions
Keywords
Outcome Measures
Primary Outcomes (3)
ADOS evaluation score at the 36 month visit
The ADOS performed at 24 and 36 months will be used as a preliminary diagnosis for data analysis. The primary outcome is the possible clinical diagnosis of autism spectrum disorder per the DSM 5 guidelines (Autistic Disorder, Asperger's and PDD-NOS).
36 months
MRI biomarkers
MRI biomarkers obtained at baseline, 12, 24, 36 months will be applied to characterize individual patients in terms of brain tissue, white matter structure and connectivity, functional networks, and pathology. Brain tissue segmentation will be based on structural images derived from T1- and T2-weighted and FLAIR sequences using automated software tools designed for these tasks. White matter integrity and organization will be inferred from DTI imaging sequences. Structural connectivity networks will be delineated by DTI tractography assessment.
36 months
EEG biomarkers
One-hour video-EEG containing both wakefulness and sleep (minimum of 20 minutes of each) will be obtained at baseline, 3, 6, 9, 12, 18, 24 and 36 months. Functional connectivity and pathological activity will be determined by measurement of EEG coherence and gamma frequency/high frequency oscillations.
36 months
Study Arms (1)
Tuberous Sclerosis Complex (TSC)
Tuberous Sclerosis Complex
Eligibility Criteria
A total of 150 evaluable infants with TSC will be recruited. Diagnosis of TSC will be based on established clinical criteria and will not require genetic testing prior to participation. The target age of entry into study is 3-6 months, but infants up to age 12 months (less than or equal to 13.5 months) will be included.
You may qualify if:
- 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.
- Age criteria: 3 months- 12 months of age at time of enrollment. For study purposes, 3 months is defined as ≥ 9 weeks, 1 day and 12 months is defined as ≤ 13.5 months.
You may not qualify if:
- Prematurity, defined as gestational age \< 36 weeks at time of delivery
- Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment
- Is taking an mTOR inhibitor such as rapamycin, sirolimus, or everolimus (other than topical formulations) at the time of study enrollment
- Subependymal Giant Cell Astrocytoma requiring medical or surgical treatment at the time of study enrollment
- History of epilepsy surgery at the time of study enrollment
- Contraindications to MRI scanning, such as metal implants/non-compatible medical devices or medical conditions
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (5)
University of Alabama at Birmingham
Birmingham, Alabama, 35294, United States
University of California at Los Angeles
Los Angeles, California, 90095, United States
Boston Children's Hospital
Boston, Massachusetts, 02115, United States
Cincinnati Children's Hospital
Cincinnati, Ohio, 45229, United States
University of Texas at Houston
Houston, Texas, 77030, United States
Related Publications (1)
Srivastava S, Prohl AK, Scherrer B, Kapur K, Krueger DA, Warfield SK, Sahin M; TACERN Study Group. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. Neurology. 2018 Apr 24;90(17):e1493-e1500. doi: 10.1212/WNL.0000000000005352. Epub 2018 Mar 23.
PMID: 29572283DERIVED
Related Links
Biospecimen
Blood
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Mustafa Sahin, MD, PhD
Boston Children's Hospital
- PRINCIPAL INVESTIGATOR
Darcy Krueger, MD, PhD
Children's Hospital Medical Center, Cincinnati
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- MD, PhD
Study Record Dates
First Submitted
January 28, 2013
First Posted
January 31, 2013
Study Start
January 1, 2013
Primary Completion
December 1, 2019
Study Completion
December 1, 2020
Last Updated
February 4, 2021
Record last verified: 2021-02