Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Public ClinicalTrials.gov record NCT02461420. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT02461420
- Recruitment status
- Active, not recruiting
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 207 participants
Conditions and interventions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 18 Months and older
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Apr 30, 2015
- Primary completion
- Nov 30, 2025
- Completion
- Nov 30, 2026
- Last update posted
- Aug 5, 2026
2015 – 2026
United States locations
- U.S. sites
- 5
- U.S. states
- 5
- U.S. cities
- 5
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Stanford University | Stanford | California | 94305 | — |
| Rush University Medical Center | Chicago | Illinois | 60612 | — |
| National Institutes of Health | Bethesda | Maryland | 20892 | — |
| Boston Children's Hospital | Boston | Massachusetts | 02115 | — |
| Icahn School of Medicine at Mount Sinai | New York | New York | 10029 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT02461420, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Aug 5, 2026 · Synced Sep 7, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT02461420 live on ClinicalTrials.gov.