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NCT Number: NCT02461446

Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations

The purpose of this study is to determine cross-sectional and longitudinal medical, behavioral, and cognitive differences between PTEN ASD and other groups, as well as to identify cognitive, neural systems, and molecular biomarkers specific to PTEN ASD. In addition, this study will be creating and maintaining a biorepository and linked phenotypic database for PTEN ASD.

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Key information

Conditions

PTEN ASD Autism Autism Spectrum Disorder Autistic Disorder Child Development Disorders, Pervasive Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Craniofacial Abnormalities Genetic Diseases, Inborn Hamartoma Hamartoma Syndrome, Multiple Macrocephaly Malformations of Cortical Development Malformations of Cortical Development, Group I Megalencephaly Mental Disorders Musculoskeletal Abnormalities Musculoskeletal Diseases Neoplasms Neoplasms, Multiple Primary Neoplastic Syndromes, Hereditary Nervous System Diseases Nervous System Malformations Neurodevelopmental Disorders PTEN Hamartoma Tumor Syndrome

Age range

18 month and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University of California at Los Angeles, Los Angeles, California, United States

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About this study

Autism spectrum disorders (ASD) are a set of neurodevelopmental disorders characterized by social communication/interaction impairments and restricted/repetitive behaviors. ASD associated with germline heterozygous PTEN mutations (PTEN ASD) is a genetically defined sub-group that, may be one of the more prevalent genetic disorders contributing to ASD (0.5-2%). The purpose of this research study is to carefully track the phenotypic and molecular characteristics of PTEN ASD and identify biomarkers for intervention studies.

Individuals with PTEN ASD, with macrocephalic ASD without a PTEN mutation (macro-ASD), healthy controls, and individuals with PTEN mutations without ASD (PTEN no-ASD) will be asked to participate in this study if they are 18 months and older. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals' primary communicative language must be English.

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, neuropsychological assessments, and a blood draw done for laboratory studies. A subset of participants between the ages of 2 and 11 years old will take part in the EEG portion of the study. 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

  • Individuals above the age of 18 months old at the time of consent who have documentation of a clinical diagnosis of autism spectrum disorder and/or a verified PTEN mutation from a medical or mental health professional for inclusion in the PTEN ASD, PTEN no-ASD or ASD macrocephaly groups.
  • Macrocephaly (head circumference greater than or equal to 98th percentile) for inclusion in the ASD macrocephaly group.
  • For youths, consent from parents or legal guardian. For adults, consent from self or legal guardian.
  • Youths who are able (some young or severely impaired participants may not be able to provide assent) will be asked to provide assent as per IRB guidelines.
  • Families with multiple children who meet the above inclusion criteria will be permitted to have as many children participate as they wish. A separate consent form will be filled out for each child enrolled in the study.
  • Primary communicative language must be English

Exclusion criteria

  • Unwilling or unable to comply with study procedures and assessments
  • Clinically significant medical disease that would prohibit participation in the study procedures.
  • For subjects ELIGIBLE FOR OPTIONAL 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 ELIGIBLE FOR 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 over 11 at the time of enrollment.

Treatment and study plan

Primary outcomes

  1. Change in verbal abilities at 12 months

    Time frame: 12 months

    Verbal and non-verbal ability will be evaluated using Stanford Binet -5 or Mullen Scales of Early Learning (MSEL) at 12 months

  2. Change in communication ability at 12 months

    Time frame: 12 months

    Communication ability will be evaluated using composite score of the Peabody Picture Vocabulary Test (PPVT-4).

  3. Change in communication ability at 12 months

    Time frame: 12 months

    Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 12 months.

  4. Change in verbal abilities at 24 months

    Time frame: 24 months

    Verbal and non-verbal ability will be evaluated using Stanford Binet 5 or Mullen Scales of Early Learning (MSEL) at 24 months

  5. Change in visual perception at 12 months

    Time frame: 12 months

    Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 12 months

  6. Change in working memory at 12 months

    Time frame: 12 months

    Working memory will be evaluated using the Stanford Binet 5 at 12 months

  7. Change in processing speed at 12 months

    Time frame: 12 months

    Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 12 months

  8. Change in working memory at 24 months

    Time frame: 24 months

    Working memory will be evaluated using the Stanford Binet 5 at 24 months

  9. Change in processing speed at 24 months

    Time frame: 24 months

    Processing Speed will be measured using the Processing Speed Index from the Weschler Intelligence Scales at 24 months

  10. Change in visual perception at 24 months

    Time frame: 24 months

    Visual perception will be measured using the Beery Developmental Test of Visuomotor Integration (VMI) at 24 months

  11. Change in communication ability at 24 months

    Time frame: 24 months

    Communication ability will be evaluated using composite score of the Peabody Picture Vocabulary Test (PPVT-4) at 24 months

  12. Change in communication ability at 24 months

    Time frame: 24 months

    Communication ability will be evaluated using composite score of the Expressive Vocabulary Test (EVT-2) at 24 months.

Study contacts

Contact information is provided by the study sponsor or research team.

Rajna Filip-Dhima, MS

CONTACT

[email protected]

617-919-7068

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)

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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