Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

NCT03426059 | Completed DMC

• 1 other identifier: IRB-P00025776
• Study Type: observational
• Target: 24
• Locations: 1 country
• Sites: 6

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.

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

Outcome Measures

Primary Outcomes (5)

• 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

• 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

• 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

• 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

• 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 Outcomes (2)

• Measure of Receptive Language Abilities

  Baseline

• Measure of Expressive Language Abilities

  Baseline

Study Arms (1)

Phelan-McDermid Syndrome

Phelan-McDermid Syndrome

Other: No Intervention

Interventions

No Intervention OTHER

No Intervention. This is an observational study.

Phelan-McDermid Syndrome

Eligibility Criteria

• Age: 22 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

30 adult subjects with PMS will be enrolled across the 6 sites for this study

You may qualify if:

• 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

You may not qualify if:

• None

Sponsors & Collaborators

• Boston Children's Hospital: lead
• Phelan-McDermid Syndrome Foundation: collaborator

Study Sites (6)

Stanford University

Stanford, California, 94305, United States

Location

Rush University Medical Center

Chicago, Illinois, 60612, United States

Location

National Institutes of Health

Bethesda, Maryland, 20892, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

Icahn School of Medicine at Mount Sinai

New York, New York, 10029, United States

Location

University of Texas Southwestern

Dallas, Texas, 75390, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood draw or saliva sample for future correlative studies in the PMS Biorepository of the Developmental Synaptopathies Consortium

MeSH Terms

Conditions

Telomeric 22q13 Monosomy Syndrome; Autism Spectrum Disorder; Intellectual Disability

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Alexander Kolevzon, MD

  Seaver Autism Center, Mount Sinai School of Medicine

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant in Neurology, Associate Professor of Neurology, Harvard Medical School

Study Record Dates

• First Submitted: January 31, 2018
• First Posted: February 8, 2018
• Study Start: May 22, 2018
• Primary Completion: December 31, 2019
• Study Completion: December 31, 2020
• Last Updated: February 18, 2025

Record last verified: 2025-02

Locations

US (6)