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

Status: Closed to Enrollment

Study Summary

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

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 understand more about the biology behind PMS and the different ways that the disease can present in individuals, as well as to create the foundation for future clinical trials (research 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 90 individuals with PMS. Individuals with PMS will be asked to participate in this study if they are between 3 and 21 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’ primary language must be English. Parents and unaffected siblings may also be asked to consent to have blood drawn for analysis.

The study involves 5 visits, 3 of which occur on site, over 2 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 have them done as part of the research study.

This study is taking place at 4 institutions throughout the country: Boston Children's Hospital, Icahn School of Medicine at Mount Sinai, Rush University Medical Center and the National Institutes of Health.


Targeted Enrollment

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

    1. Between the ages of 3 to 21 years old
    2. Have pathogenic deletions or mutations of the SHANK3 gene
    3. Primary language is English

You are not eligible to participate if:

    1. Younger than 3 years old or older than 21 years old
    2. Primary language is not English

How to participate:

If you are interested in participating in this research or would like to learn more about it, please contact Erin Carmody at Erin.Carmody@childrens.harvard.edu or 617-919-4599. Additional participating sites located here.