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COMPLETED

Mapping the Phenotype in Adults With Phelan-McDermid Syndrome

NCT03426059 · View on ClinicalTrials.gov ↗

Study Summary

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.

Interventions

  • OTHER No Intervention

Study Locations (6)

California

  • Stanford University — Stanford

Illinois

  • Rush University Medical Center — Chicago

Maryland

  • National Institutes of Health — Bethesda

Massachusetts

  • Boston Children's Hospital — Boston

New York

  • Icahn School of Medicine at Mount Sinai — New York

Texas

  • University of Texas Southwestern — Dallas

Trial Details

FieldValue
Enrollment Target 24 participants
Start Date 2018-05-22
Est. Completion 2020-12-31

Sponsor

Boston Children's Hospital

752 total trials

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Full Details on ClinicalTrials.gov ↗

What the Registry Record Tells You About NCT03426059

The ClinicalTrials.gov registry entry for NCT03426059 describes a study currently listed as completed. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 24 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Boston Children's Hospital, which has 752 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.

The record links to 3 conditions, with Autism Spectrum Disorder appearing as the primary indexed condition, and to 1 intervention — of which No Intervention is the first listed. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.

Geographic footprint matters for practical reasons: NCT03426059 reports 6 study locations spanning 6 distinct geographic areas — top geographies include California, Illinois, Maryland. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.

Frequently Asked Questions

What is clinical trial NCT03426059 about?

NCT03426059 is a clinical study titled "Mapping the Phenotype in Adults With Phelan-McDermid Syndrome". 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,...

What is the current status of trial NCT03426059?

This trial is currently completed. The enrollment target is 24 participants. The study started on 2018-05-22. Estimated completion is 2020-12-31.

What conditions does trial NCT03426059 study?

This clinical trial studies the following conditions: Autism Spectrum Disorder, Intellectual Disability, Phelan-McDermid Syndrome. These conditions were identified from the trial registry and reflect the primary focus areas of the research.

What interventions are being tested in trial NCT03426059?

The interventions under investigation include: No Intervention (OTHER). Each intervention is being evaluated for safety and efficacy as part of this clinical study.

Who is sponsoring clinical trial NCT03426059?

This trial is sponsored by Boston Children's Hospital, which has 752 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.

Where is trial NCT03426059 being conducted?

This trial has 6 study locations across California, Illinois, Maryland, Massachusetts, New York. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.

Related

Data sourced from official U.S. government datasets. See our methodology for details. Retrieved and formatted by PlainTrial Editorial