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

Part of paid clinical trials in Los Angeles, California.

Sponsor
Boston Children's Hospital
Study ID
NCT02461446
Status
Recruiting
Apply to this trial

Conditions

  • ASD
  • Autism
  • Macrocephaly
  • PTEN
  • PTEN Hamartoma Tumor Syndrome

Eligibility Criteria

Sex
ALL
Age
18 Months - N/A
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
May 31, 2015
Status verified
Oct 2024
Primary completion
Dec 31, 2025
Completion
Dec 31, 2026

Study Design

Enrollment
170 participants (estimated)

Arms

  • Arm: PTEN ASD
    PTEN participants with Autism Spectrum Disorder group
  • Arm: PTEN no ASD
    PTEN participants without Autism Spectrum Disorder group
  • Arm: Controls
    Healthy control group

Primary Outcome Measure

Change in verbal abilities at 12 months [ Time Frame: 12 months ]

Central Contacts

Locations (5)

FacilityCityStateZIPSite coordinators
University of California at Los AngelesLos AngelesCalifornia90095
Julian Martinez, MD, PhD
[email protected]
Julian Martinez, MD, PhD (PRINCIPAL_INVESTIGATOR)
Stanford University Medical CenterStanfordCalifornia94305
Robin Libove
[email protected]
650-736-1235
Antonio Hardan, MD (PRINCIPAL_INVESTIGATOR)
Boston Children's HospitalBostonMassachusetts02115
Anna Cronin
[email protected]
617-919-3499
Mustafa Sahin, MD, PhD (PRINCIPAL_INVESTIGATOR)
Cincinnati Children's Hospital Medical CenterCincinnatiOhio45229
Adrienne Victory
[email protected]
513-636-8016
David Ritter, MD (PRINCIPAL_INVESTIGATOR)
Cleveland ClinicClevelandOhio44195
Beth Crouser
[email protected]
216-445-5850
Robyn Busch, PhD (PRINCIPAL_INVESTIGATOR)

Find similar trials in Los Angeles, CA

By condition
Autism spectrum disorder
By specialty
Pediatrics
By research site
University of California at Los Angeles· Los Angeles, CAStanford University Medical Center· Stanford, CABoston Children's Hospital· Boston, MACincinnati Children's Hospital Medical Center· Cincinnati, OHCleveland Clinic· Cleveland, OH

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