NCT02461446 · Boston Children's Hospital
Natural History Study of Individuals With Autism and Germline Heterozygous PTEN Mutations
What this study is about
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.
View original scientific description
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.
Primary outcome measures
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
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).
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.
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
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
Change in working memory at 12 months
Time frame: 12 months
Working memory will be evaluated using the Stanford Binet 5 at 12 months
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
Change in working memory at 24 months
Time frame: 24 months
Working memory will be evaluated using the Stanford Binet 5 at 24 months
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
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
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
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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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.
Where
- Los Angeles, California
- Stanford, California
- Boston, Massachusetts
- Cincinnati, Ohio
- Cleveland, Ohio
Collaborators
National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS), Office of Rare Diseases (ORD), National Center for Advancing Translational Sciences (NCATS), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Oct 26, 2024 · Source of record for eligibility and locations