NCT03548779Completed
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Source: ClinicalTrials.gov · Last updated 13 May 2025
Brief summary (registry, in English)
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes. A clinical trial will be implemented to compare (1) first-line exome sequencing to usual care and (2) participant pre-visit preparation to no pre-visit preparation. The study will use a randomized controlled design, with 2x2 factorial design, coupled with patient-reported outcomes and comprehensive clinical data collection addressing key outcomes, to determine the net impact of diagnostic results and secondary findings.
- Status (registry)
- Completed
- Study type
- Interventional
- Enrollment
- 548 (actual)
- First submitted
- 24 May 2018
- Start date
- 28 Sept 2018
- Primary completion date
- 8 Sept 2023
- Lead sponsor
- University of North Carolina, Chapel Hill
- NCT number
- NCT03548779
What you commit to
- Study type: Interventional
- Participants enrolled: 548
- From 28 Sept 2018 to the primary completion date, 8 Sept 2023
- 3 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Age
- Younger than 18 years old.
Other
- Parents:
- Unwilling to complete study surveys and other procedures.
- Have cognitive or other impairments precluding ability to provide giving informed consent.
- Not fluent in English or Spanish.
- Unable to attend all clinic visits
- Children:
- Have a known genetic or non-genetic diagnosis (only referred for counseling or management).
- Medically unstable.
Who the study is looking for
- Parents meeting the following criteria:
- Parent of a child who meets the criteria below
- At least 18 years old.
- Must be able to provide informed consent for child and self.
- Must be fluent in English or Spanish.
- Children meeting the following criteria:
- Infants and children 15 years old or less.
- Referred for initial evaluation of a possible monogenic disorder OR
- Seen for evaluation of an undiagnosed disorder in a study-associated clinic.
Criteria the registry did not label
- Both children and parents are participants:
Age in the registry: 0 years to - · Sex: All · Does not accept healthy volunteers
Sites (3)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Mission Health Coordinator of this site? Confirm its status | Asheville | United States | Unknown status |
| University of North Carolina at Chapel Hill Coordinator of this site? Confirm its status | Chapel Hill | United States | Unknown status |
| East Carolina University Coordinator of this site? Confirm its status | Greenville | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.