🏛️ Verified NIH Record • Updated 2026-08-05
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome (NCT02461420)
🔵 Active, Not Recruiting Interventional Protocol 📊 Observational Clinical Research Sponsor: Boston Children's Hospital
🩺 Plain-English Summary (8th-Grade Level)
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.
Who can join: Review the eligibility criteria below.
Location: Stanford University — Stanford, California
Age range: 18 Months
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (5 Sites)
- Stanford University — Stanford, California
- Rush University Medical Center — Chicago, Illinois
- National Institutes of Health — Bethesda, Maryland
- Boston Children's Hospital — Boston, Massachusetts
- Icahn School of Medicine at Mount Sinai — New York, New York
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
More studies in Phelan-McDermid Syndrome
- A Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome — Birmingham, Alabama
- An Open-label Study of NNZ-2591 in Pediatric Participants With Phelan-McDermid Syndrome — Glendale, California
Explore by condition: All Phelan-McDermid Syndrome clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Review the official NIH record below to find the coordinating site.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.