CompletedNot Applicable

Early Biomarkers of Autism in Infants With Tuberous Sclerosis Complex (TSC)

United States166 participantsStarted 2013-01

Plain-language 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.

Who can participate

Age range3 Months – 12 Months

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 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.

Exclusion criteria

✕. 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

What they're measuring

ADOS evaluation score at the 36 month visit

Timeframe: 36 months

MRI biomarkers

Timeframe: 36 months

EEG biomarkers

Timeframe: 36 months

Trial details

NCT IDNCT01780441

SponsorBoston Children's Hospital

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2019-12

View on ClinicalTrials.gov More Tuberous Sclerosis Complex trials

Plain-language summary

Who can participate

Age range3 Months – 12 Months

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 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.

Exclusion criteria

✕. 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