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Active, Not Recruiting

NCT Number: NCT02461459

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

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Tuberous Sclerosis Autism Disorder Autism Spectrum Disorder Autistic Disorder Child Development Disorders, Pervasive Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Hamartoma Heredodegenerative Disorders, Nervous System Intellectual Disability Malformations of Cortical Development Malformations of Cortical Development, Group I Mental Disorders Neoplasms Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Nervous System Diseases Nervous System Malformations Neurobehavioral Manifestations Neurocutaneous Syndromes Neurodegenerative Diseases Neurodevelopmental Disorders Neurologic Manifestations Pathological Conditions, Signs and Symptoms Signs and Symptoms

Age range

18 month and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Alabama at Birmingham, Birmingham, Alabama, United States

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About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Change in ADOS-2 scores at end of study

    Time frame: 24 months

    Using standardized composite score for ADOS-2 performed yearly to determine ASD

  2. Change in SBIS-5 scores or Mullen Scales of Early Learning (MSEL) at end of study

    Time frame: 24 months

    Using standardized IQ score from the Stanford-Binet Intelligence Scales Fifth Edition (SBIS-5) or Mullen Scales of Early Learning (MSEL) performed yearly to determine ID

  3. Change in Fractional anisotropy (FA) at 12 months

    Time frame: 12 months

    To determine cerebellum white matter structural integrity, the primary outcome measures will be fractional anisotropy (FA) determined by MRI diffusion tensor imaging (DTI) with tractography at 12 months radial diffusivity (RD), axial diffusivity (AD), and mean diffusivity (MD) of cerebellar fascicles corresponding to the neuroanatomically-defined excitatory and inhibitory projections cerebellar Purkinje neurons,

  4. Change in fractional anisotropy (FA) at 24 months

    Time frame: 24 months

    To determine cerebellum white matter structural integrity, the primary outcome measures will be fractional anisotropy (FA) determined by MRI diffusion tensor imaging (DTI) with tractography at 24 months

  5. Change in radial diffusivity (RD) at 12 months

    Time frame: 12 months

    To determine cerebellum white matter structural integrity, the primary outcome measures will be radial diffusivity (RD) determined by MRI diffusion tensor imaging (DTI) with tractography at 12 months

  6. Change in radial diffusivity (RD) at 24 months

    Time frame: 24 months

    To determine cerebellum white matter structural integrity, the primary outcome measures will be radial diffusivity (RD) determined by MRI diffusion tensor imaging (DTI) with tractography at 24 months

  7. Change in mean diffusivity (MD) of cerebellar fascicles at 12 months

    Time frame: 12 months

    To determine cerebellum white matter structural integrity, the primary outcome measures will be mean diffusivity (MD) of cerebellar fascicles determined by MRI diffusion tensor imaging (DTI) with tractography at 12 months

  8. Change in mean diffusivity (MD) of cerebellar fascicles at 24 months

    Time frame: 24 months

    To determine cerebellum white matter structural integrity, the primary outcome measures will be mean diffusivity (MD) of cerebellar fascicles determined by MRI diffusion tensor imaging (DTI) with tractography at 24 months

  9. Change in axial diffusivity (AD) at 12 months

    Time frame: 12 months

    To determine cerebellum white matter structural integrity, the primary outcome measures will be axial diffusivity (AD) determined by MRI diffusion tensor imaging (DTI) with tractography at 12 months

  10. Change in axial diffusivity (AD) at 24 months

    Time frame: 24 months

    To determine cerebellum white matter structural integrity, the primary outcome measures will be axial diffusivity (AD) determined by MRI diffusion tensor imaging (DTI) with tractography at 24 months

Sponsors and collaborators

Lead sponsor

Boston Children's Hospital

Other

Collaborators

  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  • National Center for Advancing Translational Sciences (NCATS)
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • National Institutes of Health (NIH)
  • Office of Rare Diseases (ORD)
  • Tuberous Sclerosis Alliance

Registry information

Important dates

Study start
2015
Primary completion
2025
Study completion
2026
First posted
Jun 3, 2015
Registry last updated
Oct 26, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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