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7902: Mapping the Genotype, Phenotype, and Natural History of Phelan McDermid Syndrome (PMS)

Study Summary

The purpose of this study is to characterize define Phelan-McDermid syndrome (PMS) using standardized medical, cognitive, and behavioral measures. Additionally, this study will track how PMS develops and progresses over time using repeated measurements over time, as well as identify genetic factors which contribute to the many different symptoms that different subjects with PMS experience.

For Diseases: 22q13 Deletion syndrome, Phelan-McDermid syndrome, SHANK3 deletion/mutation


Phelan-McDermid syndrome (PMS), or 22q13 Deletion syndrome, is caused by a loss of one copy of the SHANK3 gene and is characterized by global developmental delay/intellectual disability (ID), motor skills deficits, delayed or absent speech, and autism spectrum disorder (ASD). The goal of this study is to understand more about the biology underlying PMS and the different ways that the disease can present in individuals, as well as to create the foundation for future treatment studies in PMS and in other ID/ASD-associated disorders that share signaling pathways with PMS.

About this Study

This is a longitudinal study of 200 individuals with PMS. Individuals with PMS will be asked to participate in this study if they are older than 18 months 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’ primary language must be English or Spanish. Parents and unaffected siblings may also be asked to consent to have blood drawn for analysis. Virtual visits are an option.

The study involves 3 visits which occur on site, over 2-3 years. Study visits involve a physical exam, medical history questions, blood work and neuropsychological assessments. If individuals have certain clinically indicated procedures (i.e. MRI, EEG, etc.) due, they will be asked to share their medical records.

This study is taking place at 5 institutions throughout the country: Boston Children's Hospital, Icahn School of Medicine at Mount Sinai, Rush University Medical Center, Stanford University and the National Institute of Mental Health.

Targeted Enrollment

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

  • Individuals older than 18 months of age
  • Have pathogenic deletions or mutations of the SHANK3 gene
  • Primary language is English or Spanish

You are not eligible to participate if:

  • Taken an investigational drug as part of another research study within 30 days of study enrollment.
  • Unwilling or unable to comply with study procedures or assessments.
  • Primary language is not English or Spanish

How to participate:

If you are interested in participating in this research or would like to learn more about it, please contact Aisling Quinlan at