Clinical trial · Observational
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)
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Tuberous Sclerosis Complex | — | UNRESOLVED | — |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (1)
- label
- Tuberous Sclerosis Complex (TSC)
- description
- Tuberous Sclerosis Complex
Primary outcomes (3)
- measure
- ADOS evaluation score at the 36 month visit
- timeFrame
- 36 months
- description
- 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).
- measure
- MRI biomarkers
- timeFrame
- 36 months
- description
- 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.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 3 Months
- Maximum age
- 12 Months
Show eligibility criteria text
Inclusion Criteria: 1. 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. 2. 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. Exclusion Criteria: 1. Prematurity, defined as gestational age \< 36 weeks at time of delivery 2. Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment 3. Is taking an mTOR inhibitor such as rapamycin, sirolimus, or everolimus (other than topical formulations) at the time of study enrollment 4. Subependymal Giant Cell Astrocytoma requiring medical or surgical treatment at the time of study enrollment 5. History of epilepsy surgery at the time of study enrollment 6. Contraindications to MRI scanning, such as metal implants/non-compatible medical devices or medical conditions
References
Publications (2)
- DERIVEDSadeghzadeh S, Johnstone TM, Peters JM, Porter BE, Ihnen SKZ. Association of earlier surgery with improved postoperative language development in children with tuberous sclerosis complex. J Neurosurg Pediatr. 2024 Jul 12;34(4):384-392. doi: 10.3171/2024.4.PEDS2481. Print 2024 Oct 1. PMID 38996393
- DERIVEDSrivastava 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 29572283