7905: Electrophysiological Biomarkers of Phelan-McDermid Syndrome

Status: Closed to Enrollment


Study Summary

The purpose of this study is to further characterize Phelan-McDermid Syndrome (PMS) by identifying objective electrophysiological biomarkers (measurable/identifiable EEG patterns) that can be used to understand underlying neural functioning in this study population. Utilizing measures of neurophysiological (related to the functioning of the nervous system) visual and auditory reactivity, we hope to identify electrophysiological biomarkers which (1) can be used as outcome measures in future pharmacological (drug studies) and behavioral intervention studies and (2) aid in predicting treatment response.

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 (movement) 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 appear 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. Aim 3: Neurophysiology of auditory processing in PMS.


About this Study

This is a pilot study aimed at characterizing auditory and visual evoked electrophysiological responses of 25 individuals with PMS and 25 typically developing individuals. Individuals with PMS will be asked to participate in this study if they are between 3 and 21 years of age (inclusive) and have pathogenic deletions or mutations of the SHANK3 gene and are participating in the associated natural history study: Mapping the Genotype, Phenotype and Natural History of Phelan-McDermid Syndrome. Both males and females will be asked to participate. Additionally, to be eligible for study participation, individuals’ primary language must be English. Typically developing individuals will be asked to participate in the study if they are between 3 and 21 years of age (inclusive), they are not currently taking any medications, do not have a history of learning, developmental, psychiatric, or neurological disorders and their primary communicative language is English. Both males and females will be asked to participate.

Study participation involves a single onsite visit to the participating study site to undergo EEG/ERP (event-related potential) testing as well as neurodevelopmental testing.

This study is taking place at 4 institutions across the country: Boston Children’s Hospital (Boston, MA), Icahn School of Medicine at Mount Sinai (New York, NY), Rush University Medical Center (Chicago, IL) and the University of Texas Southwestern (Dallas, TX).


Targeted Enrollment

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

Individuals with PMS

  1. Be between the ages of 3 and 21 years old (inclusive)
  2. Have pathogenic deletions or mutations of the SHANK3 gene
  3. Speak English (primary language)

Control Subjects

  1. Be between the ages of 3 to 21 years old (inclusive)
  2. Speak English (primary language)
  3. Not currently be taking any medications
  4. Not have a history of developmental, psychiatric, or neurological disorders

You are not eligible to participate if:

  1. You are younger than 3 years old or older than 21 years old
  2. Your 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 the study coordinator of any of the participating institutions by phone or by email. 


Rush University Medical Center, Chicago

Contact: Madison Printen, Research Assistant

Phone: 312-563-3352

Email: Madison_T_Printen@rush.edu



Boston Children's Hospital, Boston

Contact: Erin Carmody, Clinical Research Coordinator

Phone: 617-919-3499

Email: Erin.Carmody@childrens.harvard.edu


New York

Icahn School of Medicine at Mount Sinai, New York

Contact: Allison Durkin, Clinical Research Coordinator

Phone: 212-241-2993

Email: allison.durkin@mssm.edu



University of Texas Southwestern Medical Center, Dallas

Contact: Adrian Avila, Site Coordinator

Phone: 214-648-5155

Email: adrian.avila@utsouthwestern.edu