Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)

Study Purpose

The purpose of this study is to characterize the developmental phenotype of ASD and ID and to identify biomarkers using advanced MRI methodology and electrophysiological biomarkers of synaptic function and connectivity predictive of ASD and ID presence and severity in patients with TSC. In addition, this study will be establishing infrastructure for the collection and storage of human bio-specimens, including genetic material, from TSC patients and their family members with ASD.

Recruitment Criteria

Accepts Healthy Volunteers

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Yes
Study Type

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

Observational
Eligible Ages 18 Months and Over
Gender All
More Inclusion & Exclusion Criteria

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, and echocardiogram.
  • - Age criteria: over 18 months of age at time of enrollment.
  • - Is diagnosed or suspected to have ASD and/or ID.
  • - Primary communicative language is English

    Exclusion Criteria:

    - Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment.
  • - For subjects involved in imaging biomarker assessment: contraindications to 3T MRI scanning, such as metal implants/non-compatible medical devices or medical conditions, including vagus nerve stimulator.
  • - For subjects involved in EEG/ERP biomarker assessment: contraindications to EEG/ERP, such as uncooperative or destructive behaviors preventing lead placement or capture by ERP/VEP equipment.
Under age 2 or above age 11 at the time of enrollment.
  • - Unwilling or unable to comply with study procedures and assessments.

Trial Details

Trial ID:

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

NCT02461459
Phase

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Lead Sponsor

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

Boston Children's Hospital
Principal Investigator

The person who is responsible for the scientific and technical direction of the entire clinical study.

Darcy Krueger, MD, PhD
Principal Investigator Affiliation Children's Hospital Medical Center, Cincinnati
Agency Class

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

OtherNIHNIHOtherNIHNIHNIH
Overall Status Recruiting
Countries United States
Conditions

The disease, disorder, syndrome, illness, or injury that is being studied.

Tuberous Sclerosis, Autism Disorder, Intellectual Disability
Additional Details

Tuberous Sclerosis Complex (TSC) is a multi-system disease that usually exhibits a high variability in clinical findings both among and within families. About 50% of individuals with TSC develop intellectual disability (ID) and/or autism spectrum disorder (ASD). The purpose of this research study is to learn more information about ASD/ID in individuals with TSC through neurobehavioral assessments, electroencephalogram (EEG) data, and magnetic resonance imaging so that ultimately effective treatments and interventions for ASD/ID can be realized. Individuals with TSC will be asked to participate in this study if they are 18 months or older at the time of enrollment and have been diagnosed with suspected or confirmed autism spectrum disorder and/or intellectual disability, as well as healthy controls. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals' primary communicative language must be English. The participant and at least one biological parent will be asked to provide biological specimens including DNA and RNA for inclusion in the TSC RDCRN Biorepository. The study involves 3 on site visits over the course of two years. Study visits will vary in length from about 4 hours to 6 hours. Study visits involve a physical exam, medical history questions, and neuropsychological assessments. A subset of participants between the ages of 2 and 11 years old will take part in the EEG portion of the study. At one point during the study, a blood draw will be done for future research studies. Individuals who have a clinically indicated MRI will have an option to provide routine clinical scans for analysis.

Arms & Interventions

Arms

: Tuberous Sclerosis Complex

Tuberous Sclerosis Complex

Interventions

Contact a Trial Team

If you are interested in learning more about this trial, find the trial site nearest to your location and contact the site coordinator via email or phone. We also strongly recommend that you consult with your healthcare provider about the trials that may interest you and refer to our terms of service below.

University of Alabama at Birmingham, Birmingham, Alabama

Status

Recruiting

Address

University of Alabama at Birmingham

Birmingham, Alabama, 35294

Site Contact

Jessica Krefting, RN

JessicaKrefting@uab.edu

205-975-2890

University of California at Los Angeles, Los Angeles, California

Status

Recruiting

Address

University of California at Los Angeles

Los Angeles, California, 90095

Site Contact

Carly Hyde

CHyde@mednet.ucla.edu

310-825-8738

Stanford University, Palo Alto, California

Status

Recruiting

Address

Stanford University

Palo Alto, California, 94304

Site Contact

Swetapadma Patnaik

sweta@stanford.edu

650-721-1458

Boston Children's Hospital, Boston, Massachusetts

Status

Recruiting

Address

Boston Children's Hospital

Boston, Massachusetts, 02115

Cincinnati, Ohio

Status

Recruiting

Address

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229

Site Contact

Molly Griffith

Molly.Griffith@cchmc.org

513-636-9669

University of Texas at Houston, Houston, Texas

Status

Recruiting

Address

University of Texas at Houston

Houston, Texas, 77030

Site Contact

Elida Salazar

Elida.L.Salazar@uth.tmc.edu

713-500-5766

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