Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Conditions:Other Indications, Neurology, Psychiatric, Autism
Therapuetic Areas:Neurology, Psychiatry / Psychology, Other
Age Range:3 - 21
Start Date:May 2015
End Date:December 2019
Contact:Rajna Filip-Dhima, MS

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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 difusion tensor imaging and identify genetic factors
which contribute to diverse phenotypes in patients with PMS.

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 PMS phenotype and the biological pathways
associated with ID and ASD in the disorder, and to establish the foundation for future
clinical trials in PMS and in other ID/ASD-associated disorders that share signaling pathways
with PMS.

Individuals with PMS will be asked to participate in this study if they are between the ages
of 3 to 21 years of age with pathogenic deletions or mutations of the SHANK3 gene at time of
enrollment. Both males and females will be asked to participate. Additionally, to be eligible
for study participation, individuals' primary communicative 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 on site visits ) over 2 years. Study visits involve a physical
exam, medical history questions, blood work and neuropsychological assessments. Individuals
who have certain clinically indicated procedures (i.e. MRI, EEG, etc.) due will have them
done as part of the research study.

Inclusion Criteria:

- Individuals 3 to 21 years of age with pathogenic deletions or mutations of the SHANK3

- English speaking individuals

Exclusion Criteria:

- Individuals younger than 3 or older than 21 at time of enrollment
We found this trial at
1653 W. Congress Parkway
Chicago, Illinois 60612
(312) 942-5000
Principal Investigator: Elizabeth Berry-Kravis, MD, PhD
Phone: 312-563-3352
Rush University Medical Center Rush University Medical Center encompasses a 664-bed hospital serving adults and...
Chicago, IL
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Bethesda, Maryland 20892
Principal Investigator: Audrey Thurm, PhD
Phone: 301-402-1084
Bethesda, MD
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300 Longwood Ave
Boston, Massachusetts 02115
(617) 355-6000
Principal Investigator: Mustafa Sahin, MD, PhD
Phone: 617-919-4599
Boston Children's Hospital Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care....
Boston, MA
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Dallas, Texas 75390
Principal Investigator: Craig Powell, MD, PHD
Phone: 214-648-5155
Dallas, TX
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1428 Madison Ave
New York, New York 10029
(212) 241-6500
Principal Investigator: Alexander Kolevzon, MD
Phone: 212-241-2993
Icahn School of Medicine at Mount Sinai Icahn School of Medicine at Mount Sinai is...
New York, NY
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450 Serra Mall
Stanford, California 94305
(650) 723-2300
Principal Investigator: Jon Bernstein, MD, PHD
Phone: 650-725-0439
Stanford University Stanford University, located between San Francisco and San Jose in the heart of...
Stanford, CA
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