Clinical trial NCT03426059: Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
Official title: Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Phelan-McDermid Syndrome
Autism Spectrum Disorder
Intellectual Disability
Keywords: Phelan-McDermid Syndrome
PMS
Genotype
Phenotype
Mapping
22q13 Deletion Syndrome
SHANK3
Autism Spectrum Disorder
ASD
Intellectual Disability
ID
Lead sponsor: Boston Children's Hospital
Sponsor class: OTHER
Collaborators: name: Phelan-McDermid Syndrome Foundation
First posted: 2018-02-08
Enrollment: 24
Sex: ALL
Minimum age (years): 22
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 30 adult subjects with PMS will be enrolled across the 6 sites for this study

Brief summary: 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.

Detailed description: 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 PMS.

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

Eligibility criteria: 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 gene
* Participant is proficient in English
* Participant provided consent

Exclusion Criteria:

* None

Primary outcomes:
measure: Global cognitive ability
timeFrame: Baseline
measure: Measure of Adaptive Behavior
timeFrame: Baseline
measure: Measure of Overall Language Abilities
timeFrame: Baseline
measure: Measure of Overall Motor Functioning
timeFrame: Baseline
measure: Measure of autism symptoms
timeFrame: Baseline
Secondary outcomes:
measure: Measure of Receptive Language Abilities
timeFrame: Baseline
measure: Measure of Expressive Language Abilities
timeFrame: Baseline
Other outcomes:
Locations:
city: Stanford
country: United States
facility: Stanford University
state: California
city: Chicago
country: United States
facility: Rush University Medical Center
state: Illinois
city: Bethesda
country: United States
facility: National Institutes of Health
state: Maryland
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: New York
country: United States
facility: Icahn School of Medicine at Mount Sinai
state: New York
city: Dallas
country: United States
facility: University of Texas Southwestern
state: Texas
Study officials:
affiliation: Seaver Autism Center, Mount Sinai School of Medicine
name: Alexander Kolevzon, MD
role: STUDY_CHAIR
References: