North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Completed · Not applicable
Conditions studied: 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
In brief
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.
Key facts
- Study ID
- NCT03548779
- Run by
- University of North Carolina, Chapel Hill
- People needed
- 548
- Starts
- 2018-09-28
- Expected to finish
- 2024-09-08
- Last updated by the study team
- 2025-05-13
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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.
You may not qualify if…
- Parents:
- Younger than 18 years old.
- 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.
Where it is running
- Mission Health — Asheville, North Carolina, United States
- University of North Carolina at Chapel Hill — Chapel Hill, North Carolina, United States
- East Carolina University — Greenville, North Carolina, United States
Full record on ClinicalTrials.gov
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