Mapping the Phenotype in Adults With Phelan-McDermid Syndrome
Public ClinicalTrials.gov record NCT03426059. 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 protocol aims to comprehensively define the phenotype of Phelan-McDermid Syndrome and to identify potential genetic factors, which may play a role in the variability of the disease's outcomes. The first aim involves a physical exam, a neurological exam, collection of medical history information, a clinical genetic evaluation, blood work and neuropsychological assessments. If clinically indicated, the protocol collects information from medical tests. These medical tests may include electrocardiography, echocardiography, renal ultrasonography, and renal ultrasound.
Study identification
- NCT ID
- NCT03426059
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 24 participants
Conditions and interventions
Eligibility (public fields only)
- Age range
- 22 Years and older
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- May 22, 2018 (Actual)
- Primary completion
- Dec 31, 2019 (Actual)
- Completion
- Dec 31, 2020 (Actual)
- Last update posted
- Feb 18, 2025
2018 – 2020
United States locations
- U.S. sites
- 6
- U.S. states
- 6
- U.S. cities
- 6
| 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 | — |
| University of Texas Southwestern | Dallas | Texas | 75390 | — |
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 NCT03426059, 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 Feb 18, 2025 · Synced Oct 21, 2026
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Open the official record
The complete public registry record, listed eligibility criteria, and available contact information for NCT03426059 live on ClinicalTrials.gov.