Trial Search Results

Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

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.

Stanford is currently accepting patients for this trial.

Lead Sponsor:

Boston Children's Hospital

Collaborator: National Institute of Neurological Disorders and Stroke (NINDS)

Stanford Investigator(s):


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

Ages Eligible for Study

18 Months - N/A

Genders Eligible for Study


Now accepting new patients

Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305
Julia Buckingham