Autism Spectrum Disorder Clinical Trial
Official title:
Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
Verified date | April 2021 |
Source | Boston Children's Hospital |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
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 |
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 |
Lead Sponsor | Collaborator |
---|---|
Boston Children's Hospital | Phelan-McDermid Syndrome Foundation |
United States,
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 |
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