~13 spots leftby Dec 2025

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

Recruiting in Palo Alto (17 mi)
+4 other locations
Age: Any Age
Sex: Any
Travel: May be covered
Time Reimbursement: Varies
Trial Phase: Academic
Waitlist Available
Sponsor: Boston Children's Hospital
No Placebo Group

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.

Eligibility Criteria

Participant Groups

Find A Clinic Near You

Research locations nearbySelect from list below to view details:
Boston Children's HospitalBoston, MA
Stanford UniversityStanford, CA
National Institutes of HealthBethesda, MD
Icahn School of Medicine at Mount SinaiNew York, NY
More Trial Locations
Loading ...

Who is running the clinical trial?

Boston Children's HospitalLead 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 FoundationCollaborator
National Institutes of Health (NIH)Collaborator
National Center for Advancing Translational Science (NCATS)Collaborator

References