Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Trial Summary
What is the purpose of this trial?
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 diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.
Research Team
Alexander Kolevzon, MD
Principal Investigator
Icahn School of Medicine at Mount Sinai
Eligibility Criteria
Inclusion Criteria
Timeline
Screening
Participants are screened for eligibility to participate in the trial
Baseline Assessment
Initial assessments including physical exam, medical history, blood work, and neuropsychological assessments
Longitudinal Assessment
Participants undergo repeated assessments to track changes in autism symptoms, language abilities, motor functioning, adaptive behavior, and cognitive ability
Follow-up
Participants are monitored for safety and effectiveness after the main assessments
Treatment Details
Interventions
- N/A
Find a Clinic Near You
Who Is Running the Clinical Trial?
Boston Children's Hospital
Lead Sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
National Center for Advancing Translational Sciences (NCATS)
Collaborator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborator
Office of Rare Diseases (ORD)
Collaborator
Phelan-McDermid Syndrome Foundation
Collaborator
National Institutes of Health (NIH)
Collaborator
National Center for Advancing Translational Science (NCATS)
Collaborator