North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Public ClinicalTrials.gov record NCT03548779. 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 "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.
Study identification
- NCT ID
- NCT03548779
- Recruitment status
- Completed
- Study type
- Interventional
- Phase
- Not applicable
- Enrollment
- 548 participants
Conditions and interventions
Conditions
- Epilepsy; Seizure
- Neuromuscular Diseases
- Brain Malformation
- Intellectual Disability
- Autism Spectrum Disorder
- Hypotonia
- Inborn Errors of Metabolism
- Movement Disorders
- Genetic Disease
- Development Delay
- Chromosome Abnormality
- Hearing Loss
- Dysmorphic Features
- Skeletal Dysplasia
- Congenital Abnormality
- Microcephaly
- Macrocephaly
Interventions
- Pre-visit prep Behavioral
- usual care + exome seq Diagnostic Test
Behavioral · Diagnostic Test
Eligibility (public fields only)
- Age range
- 0 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
- Sep 27, 2018
- Primary completion
- Sep 7, 2023
- Completion
- Sep 7, 2024
- Last update posted
- May 12, 2025
2018 – 2024
United States locations
- U.S. sites
- 3
- U.S. states
- 1
- U.S. cities
- 3
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Mission Health | Asheville | North Carolina | 28801 | — |
| University of North Carolina at Chapel Hill | Chapel Hill | North Carolina | 27599 | — |
| East Carolina University | Greenville | North Carolina | 27858 | — |
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 NCT03548779, 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 May 12, 2025 · Synced Sep 5, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT03548779 live on ClinicalTrials.gov.