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.

Stanford Investigator(s):

Now accepting new patients

Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305
Julia Buckingham
650-725-0439
Recruiting