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Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

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ClinicalTrials.gov Identifier: NCT03426059
Recruitment Status : Recruiting
First Posted : February 8, 2018
Last Update Posted : February 5, 2019
Sponsor:
Collaborator:
Phelan-McDermid Syndrome Foundation
Information provided by (Responsible Party):
Mustafa Sahin, Boston Children’s Hospital

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.

Condition or disease Intervention/treatment
Phelan-McDermid Syndrome Autism Spectrum Disorder Intellectual Disability Other: No Intervention

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


Study Type : Observational
Estimated Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
Actual Study Start Date : May 22, 2018
Estimated Primary Completion Date : December 31, 2019
Estimated Study Completion Date : April 30, 2020


Group/Cohort Intervention/treatment
Phelan-McDermid Syndrome
Phelan-McDermid Syndrome
Other: No Intervention
No Intervention. This is an observational study.




Primary Outcome Measures :
  1. Global cognitive ability [ Time Frame: Baseline ]
    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

  2. Measure of Adaptive Behavior [ Time Frame: Baseline ]
    Using the standardized composite score from the Vineland Adaptive Behavior Scales (20-160, where higher values represent a better outcome) to measure adaptive behavior

  3. Measure of Overall Language Abilities [ Time Frame: Baseline ]
    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

  4. Measure of Overall Motor Functioning [ Time Frame: Baseline ]
    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

  5. Measure of autism symptoms [ Time Frame: Baseline ]
    Using the standardized comparison score from the Autism Diagnostic Observation Scale (1-10, where higher values represent a worse outcome) to measure autism


Secondary Outcome Measures :
  1. Measure of Receptive Language Abilities [ Time Frame: Baseline ]
    Using standardized scores from the Peabody Picture Vocabulary Test (20-160, where higher values represent a better outcome) to measure receptive language abilities

  2. Measure of Expressive Language Abilities [ Time Frame: Baseline ]
    Using standardized scores from the Expressive Vocabulary Test (20-160, where higher values represent a better outcome) to measure expressive language abilities


Biospecimen Retention:   Samples With DNA
Blood draw or saliva sample for future correlative studies in the PMS Biorepository of the Developmental Synaptopathies Consortium


Information from the National Library of Medicine

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Ages Eligible for Study:   22 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
30 adult subjects with PMS will be enrolled across the 6 sites for this study
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:


Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03426059


Locations
United States, California
Stanford University Recruiting
Stanford, California, United States, 94305
Contact: Elijah Kravets    650-724-1881    ekravets@stanford.edu   
Principal Investigator: Jon Bernstein, MD, PHD         
United States, Illinois
Rush University Medical Center Active, not recruiting
Chicago, Illinois, United States, 60612
United States, Maryland
National Institutes of Health Recruiting
Bethesda, Maryland, United States, 20892
Contact: Margaret Pekar    301-402-1084    pekarm@mail.nih.gov   
Principal Investigator: Audrey Thurm, PhD         
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Erin Carmody    617-919-4599    Erin.Carmody@childrens.harvard.edu   
Principal Investigator: Mustafa Sahin, MD, PhD         
United States, New York
Icahn School of Medicine at Mount Sinai Recruiting
New York, New York, United States, 10029
Contact: Emma Wilkinson    212-241-2993    Emma.Wilkinson@mssm.edu   
Principal Investigator: Alexander Kolevzon, MD         
United States, Texas
University of Texas Southwestern Recruiting
Dallas, Texas, United States, 75390
Contact: Adrian Avila    214-648-5155    Adrian.Avila@UTSouthwestern.edu   
Principal Investigator: Cassandra Newsom, PsyD         
Sponsors and Collaborators
Boston Children’s Hospital
Phelan-McDermid Syndrome Foundation

Responsible Party: Mustafa Sahin, Assistant in Neurology, Associate Professor of Neurology, Harvard Medical School, Boston Children’s Hospital
ClinicalTrials.gov Identifier: NCT03426059     History of Changes
Other Study ID Numbers: IRB-P00025776
First Posted: February 8, 2018    Key Record Dates
Last Update Posted: February 5, 2019
Last Verified: February 2019

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Mustafa Sahin, Boston Children’s Hospital:
Autism Spectrum Disorder
Phelan-McDermid Syndrome
PMS
Genotype
Phenotype
Mapping
22q13 Deletion Syndrome
SHANK3
ASD
Intellectual Disability
ID

Additional relevant MeSH terms:
Autism Spectrum Disorder
Syndrome
Child Development Disorders, Pervasive
Intellectual Disability
Chromosome Deletion
Chromosome Disorders
Disease
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Monosomy
Aneuploidy
Chromosome Aberrations
Congenital Abnormalities
Genetic Diseases, Inborn