Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

Autism Spectrum Disorder Clinical Trial

Official title:

Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03426059
• Other study ID #: IRB-P00025776
• Status: Completed
• Start date: May 22, 2018
• Est. completion date: December 31, 2020

Study information

• Verified date: April 2021
• Source: Boston Children's Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 24
• Est. completion date: December 31, 2020
• Est. primary completion date: December 31, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 22 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Autism Spectrum Disorder
• Chromosome Deletion
• Chromosome Disorders
• Intellectual Disability
• Phelan-McDermid Syndrome
• Syndrome

Intervention

Other:
• No Intervention
No Intervention. This is an observational study.

Locations

Country	Name	City	State
United States	National Institutes of Health	Bethesda	Maryland
United States	Boston Children's Hospital	Boston	Massachusetts
United States	Rush University Medical Center	Chicago	Illinois
United States	University of Texas Southwestern	Dallas	Texas
United States	Icahn School of Medicine at Mount Sinai	New York	New York
United States	Stanford University	Stanford	California

Sponsors (2)

Lead Sponsor	Collaborator
Boston Children's Hospital	Phelan-McDermid Syndrome Foundation

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Global cognitive ability	Using standardized T-scores from the Mullen Scales for Early Learning (49 to 155, where higher values represent a better outcome) or full scale IQ scores from the Stanford Binet-5 (40 to 160, where higher values represent a better outcome) to measure global cognitive ability	Baseline
Primary	Measure of Adaptive Behavior	Using the standardized composite score from the Vineland Adaptive Behavior Scales (20-160, where higher values represent a better outcome) to measure adaptive behavior	Baseline
Primary	Measure of Overall Language Abilities	Using standardized T-scores from the Mullen Receptive Language and Expressive Language subscales (20 to 80, where higher values represent a better outcome), the standardized composite score Vineland Communication subscale (20-160, where higher values represent a better outcome) and the total raw scores from the Macarthur Bates Communication Developmental Inventory to measure overall language	Baseline
Primary	Measure of Overall Motor Functioning	Using standardized T-scores from the Mullen Gross and Fine Motor subscales (20-80, where higher values represent a better outcome) and the Vineland's Motor Skills Domain Standard Score (20-160, where higher values represent a better outcome) to assess motor ability	Baseline
Primary	Measure of autism symptoms	Using the standardized comparison score from the Autism Diagnostic Observation Scale (1-10, where higher values represent a worse outcome) to measure autism	Baseline
Secondary	Measure of Receptive Language Abilities	Using standardized scores from the Peabody Picture Vocabulary Test (20-160, where higher values represent a better outcome) to measure receptive language abilities	Baseline
Secondary	Measure of Expressive Language Abilities	Using standardized scores from the Expressive Vocabulary Test (20-160, where higher values represent a better outcome) to measure expressive language abilities	Baseline