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

Active, not recruitingOBSERVATIONAL
Enrollment

205

Participants

Timeline

Start Date

May 31, 2015

Primary Completion Date

December 31, 2025

Study Completion Date

December 31, 2026

Conditions
Phelan-McDermid SyndromeAutism Spectrum DisorderIntellectual Disability
Trial Locations (5)

10029

Icahn School of Medicine at Mount Sinai, New York

20892

National Institutes of Health, Bethesda

60612

Rush University Medical Center, Chicago

94305

Stanford University, Stanford

02115

Boston Children's Hospital, Boston

All Listed Sponsors
collaborator

National Institute of Neurological Disorders and Stroke (NINDS)

NIH

collaborator

National Institutes of Health (NIH)

NIH

collaborator

Office of Rare Diseases (ORD)

NIH

collaborator

National Center for Advancing Translational Sciences (NCATS)

NIH

collaborator

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

NIH

collaborator

Phelan-McDermid Syndrome Foundation

OTHER

lead

Boston Children's Hospital

OTHER

NCT02461420 - Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome | Biotech Hunter | Biotech Hunter