Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

Conditions:Other Indications, Neurology, Psychiatric, Autism
Therapuetic Areas:Neurology, Psychiatry / Psychology, Other
Age Range:22 - Any
Start Date:May 22, 2018
End Date:April 30, 2020

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The protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to
identify potential genetic factors, which may play a role in the variability of the disease's
outcomes. The first aim involves a physical exam, a neurological exam, collection of medical
history information, a clinical genetic evaluation, blood work and neuropsychological
assessments. If clinically indicated, the protocol collects information from medical tests.
These medical tests may include electrocardiography, echocardiography, renal ultrasonography,
and renal ultrasound.

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 phenotypic outcomes and the biological
pathways associated 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

Individuals with PMS will be asked to participate in this study if they are 22 years of age
or older 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.

For this study, there is only one study visit. Study visit involves 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:

- Participant is 22 years of age and older at the time of enrollment

- Participant has been diagnosed with pathogenic deletions or mutations of the SHANK3

- Participant is proficient in English

- Participant provided consent

Exclusion Criteria:
We found this trial at
450 Serra Mall
Stanford, California 94305
(650) 723-2300
Principal Investigator: Jon Bernstein, MD, PHD
Phone: 650-724-1881
Stanford University Stanford University, located between San Francisco and San Jose in the heart of...
Stanford, CA
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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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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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Dallas, Texas 75390
Principal Investigator: Cassandra Newsom, PsyD
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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