Clinical Trial: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome

Brief Summary: The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including difusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.

Detailed Summary:

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 phenotype and the biological pathways associated with ID and ASD 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 between the ages of 3 to 21 years of age 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.

The study involves 5 visits (3 on site visits ) over 2 years. Study visits involve 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.

Sponsor: Boston Children’s Hospital

Current Primary Outcome:

• Change in global cognitive ability at 12 months [ Time Frame: 12 months ]
  Using Mullen Scales for Early Learning or Stanford Binet-5 to measure global cognitive ability
• Change in adaptive behavior at 12 months [ Time Frame: 12 months ]
  Using Vineland Adaptive Behavior Scales to measure adaptive behavior
• Change in language abilities at 12 months [ Time Frame: 12 months ]
  Using composite of Mullen Subscales, Vineland Subscales and Macarthur Bates Communication Developmental Inventory to measure language
• Change in motor functioning at 12 months [ Time Frame: 12 months ]
  Using composite of Mullen Subscales and Vineland Subscales to measure motor functioning
• Change in autism symptoms at 12 months [ Time Frame: 12 months ]
  Using composite of Autism Diagnostic Observation Schedule and Repetitive Behavior Scales-Revised to measure autism
• Change in global cognitive ability at 24 months [ Time Frame: 24 months ]
  Using Mullen Scales for Early Learning or Stanford Binet-5 to measure global cognitive ability
• Change in adaptive behavior at 24 months [ Time Frame: 24 months ]
  Using Vineland Adaptive Behavior Scales to measure adaptive behavior
• Change is language abilities at 24 months [ Ti
  
  

  Original Primary Outcome: Same as current
  
  

  Current Secondary Outcome:
  
  

  Original Secondary Outcome:
  
  Information By: Boston Children’s Hospital
  

  Dates:
  Date Received: May 11, 2015
  Date Started: May 2015
  Date Completion: December 2019
  Last Updated: February 27, 2017
  Last Verified: February 2017