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Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Recruiting
I'm InterestedTrial ID: NCT02461420
Purpose
The purpose of this study is to comprehensively characterize PMS using standardized medical,
cognitive, and behavioral measures and to track the natural history of the syndrome using
repeated longitudinal assessments. In addition, this study will be aiming to identify
biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic
factors which contribute to diverse phenotypes in patients with PMS.
Official Title
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Stanford Investigator(s)
Eligibility
Inclusion Criteria:
- Individuals older than 18 months of age with pathogenic deletions or mutations of the
SHANK3 gene
- English speaking individuals
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 over age 11 at the time of enrollment.
- Unwilling or unable to comply with study procedures and assessments
Recruiting
I'm InterestedContact Information
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305
Julia Buckingham
650-725-0439