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

ConditionsPTENASDAutismMacrocephalyPTEN Hamartoma Tumor Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorBoston Children's Hospital

About this trial

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.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

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.

Disqualifiers

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.

Trial population

170 patients will be enrolled for this study, over the age of 18 month old.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

170 Participants
are grouped into 3 trial groups
Group A: PTEN ASD
Group B: PTEN no ASD
Group C: Controls

Trial outcomes

Primary outcomes

1

Change in verbal abilities at 12 months

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

Time frame
12 months
2

Change in communication ability at 12 months

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

Time frame
12 months
3

Change in communication ability at 12 months

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

Time frame
12 months
4

Change in verbal abilities at 24 months

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

Time frame
24 months

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Boston Children's Hospital

Lead sponsor

National Institutes of Health (NIH)

Collaborator

National Institute of Neurological Disorders and Stroke (NINDS)

Collaborator

Office of Rare Diseases (ORD)

Collaborator

National Center for Advancing Translational Sciences (NCATS)

Collaborator

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Collaborator

Source ClinicalTrials.gov
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