7906: Mapping the Phenotype in Adults with Phelan-McDermid Syndrome

Status: Closed to Enrollment


Study Summary

The study aims to characterize Phelan-McDermid Syndrome in adults and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. 

For Diseases: 22q13 Deletion syndrome, Phelan-McDermid Syndrome, Shank3 deletion/mutation.



Phelan-McDermid Syndrome (PMS), or 22q13 Deletion syndrome, caused by a loss of one copy of the SHANK3 gene, is characterized by global developmental delay/intellectual disability, motor skills deficits, delayed or absent speech, and autism spectrum disorder. The goal of this study is to continue to understand more about the biology behind PMS and the different ways that the disease can affect adults with PMS.The study will help to create the foundation for future clinical trials (research studies) in PMS and in other Intellectual Disability/Autism Spectrum Disorder-associated disorders that share signaling pathways with PMS.


About This Study

This is a study of 30 adults with PMS. You will be asked to participate in this study if you are older than 22 years of age and have pathogenic deletions or mutations of the SHANK3 gene. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals must be proficient in English. Parents and unaffected siblings may also be asked to consent to have blood drawn for analysis.

The study involves a one-time visit. The study visit will involve a physical exam, medical history questions, blood work and neuropsychological assessments. If certain clinically indicated tests (i.e. MRI, EEG, etc.) are due, results will be collected as part of the research study.

This study is taking place at 6 medical centers throughout the country: Boston Children's Hospital, Icahn School of Medicine at Mount Sinai, Rush University Medical Center, the National Institutes of Health, Stanford University and University of Texas Southwestern.


Targeted Enrollment

To be eligible to participate, you must meet the following criteria:


  1. 22 years of age or older at the time of enrollment
  2. Have pathogenic deletions or mutations of the SHANK3 gene
  3. Are proficient in English

You are not eligible to participate if:

  1. Younger than 22 years old at the time of enrollment
  2. Not proficient in English


How to Participate

In order to participate in the study, you must contact the study coordinator of any of the participating institutions by phone or by e-mail. Please see the information below to ask about participation:

United States, California


  • Stanford University, Palo Alto
    Study Coordinator: Julia Buckingham
    Phone: 605-736-1235
    Email: juliab@stanford.edu

United States, Illinois

United States, Maryland

  • National Institutes of Health, Bethesda
    Study Coordinator: Margaret Pekar
    Phone: 301-402-1084
    Email: pekarm@mail.nih.gov

United States, Massachusetts

United States, New York

  • Ichan School of Medicine at Mount Sinai, New York
    Study Coordinator: Allison Durkin
    Phone: 212-241-2993
    Email: Allison.Durkin@mssm.edu

United States, Texas