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Recruiting
I'm InterestedTrial ID: NCT02461420
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
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 Interested
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305
Julia Buckingham
650-725-0439