N/A
N=548
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Epilepsy; Seizure · Neuromuscular Diseases · Brain Malformation · Intellectual Disability · Autism Spectrum Disorder
Bottom Line
View on ClinicalTrials.gov: NCT03548779 ↗Enrolled (actual)
548
Serious AEs
0.4%
Results posted
May 2025
Primary outcome: Primary: Initial Patient Pediatric Quality of Life (Peds QL) Score — 64.37; 65.83; 60.04; 63.39 score on a scale
Study Design & Population
- Study type
- Interventional
- Phase
- N/A
- Interventions
- Pre-visit prep (Behavioral); usual care + exome seq (Diagnostic_test)
- Age
- Pediatric, Adult, Older Adult · 0+ yrs
- Sex
- All
- Sponsor
- University of North Carolina, Chapel Hill
- Primary completion
- Sep 2023
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Initial Patient Pediatric Quality of Life (Peds QL) Score |
64.37; 65.83; 60.04; 63.39 | — |
| PRIMARY Final Patient Pediatric Quality of Life (Peds QL) Score |
72.15; 75.74; 71.65; 68.90 | — |
| PRIMARY Initial Caregiver QoL Score |
50.14; 48.84; 51.30; 47.69 | — |
| PRIMARY Intermediate Caregiver QoL Score |
51.48; 46.58; 50.66; 50.08 | — |
| PRIMARY Final Caregiver QoL Score |
53.31; 50.38; 47.41; 47.46 | — |
| PRIMARY Post-Clinic Visit 1 Mean Patient Centeredness Score |
5.7; 5.7; 5.9; 5.8 | — |
| PRIMARY Post-Return of Results Mean Patient Centeredness Score |
5.5; 5; 5; 4.8 | — |
| PRIMARY Number of Questions Caregiver Asks in Clinic Visit 1 |
4.36; 2.83 | — |
| PRIMARY Number of In-patient Hospital Admissions Among Child Participants 1 Year Prior to Return of Results |
0; 3; 4; 2 | — |
| PRIMARY Number of In-patient Hospital Admissions Among Child Participants 1 Year After Return of Results |
1; 1; 8; 2 | — |
| PRIMARY Number of In-patient Hospital Days Among Child Participants 1 Year Prior to Return of Results |
0; 13; 22; 1 | — |
| PRIMARY Number of In-patient Hospital Days Among Child Participants 1 Year After Return of Results |
5; 5; 148; 11 | — |
| PRIMARY Number of Long-term Care Admissions Among Child Participants 1 Year Prior to Return of Results |
0; 0; 4; 0 | — |
| PRIMARY Number of Long-term Care Admissions Among Child Participants 1 Year After Return of Results |
0; 0; 3; 0 | — |
| PRIMARY Number of Long-term Care Days Among Child Participants 1 Year Prior to Return of Results |
0; 0; 29; 0 | — |
| PRIMARY Number of Long-term Care Days Among Child Participants 1 Year After Return of Results |
0; 0; 17; 0 | — |
| PRIMARY Number of ER Visits Among Child Participants 1 Year Prior to Return of Results |
15; 25; 35; 35 | — |
| PRIMARY Number of ER Visits Among Child Participants 1 Year After Return of Results |
10; 29; 20; 23 | — |
| PRIMARY Number of Specialists Visits Among Child Participants 1 Year Prior to Return of Results |
202; 665; 663; 332 | — |
| PRIMARY Number of Specialists Visits Among Child Participants 1 Year After Return of Results |
220; 556; 650; 273 | — |
| SECONDARY Initial Average Peds QL Score for "Missing School for Not Feeling Well" |
70.8; 80.6; 65.5; 73 | — |
| SECONDARY Final Average Peds QL Score for "Missing School for Not Feeling Well" |
77.1; 82.6; 78.9; 81.3 | — |
| SECONDARY Initial Average Peds QL Score for "Missing School for Doctors Visit" |
59.7; 65; 54.9; 60 | — |
| SECONDARY Final Average Peds QL Score for "Missing School for Doctors Visit" |
77.1; 82.6; 78.9; 82.5 | — |
| SECONDARY Initial Amount of Work Missed Because of Child's Condition or Treatments Score |
2.3; 2.4; 2.5; 2 | — |
| SECONDARY Final Amount of Work Missed Because of Child's Condition or Treatments Score |
2.3; 2.3; 2.5; 2.6 | — |
| SECONDARY Initial Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score |
2.7; 2.5; 2.7; 2.4 | — |
| SECONDARY Intermediate Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score |
1.9; 2; 2.3; 2.1 | — |
| SECONDARY Final Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score |
2.1; 2.1; 2.1; 2.1 | — |
| SECONDARY Percent Concordance of Caregiver and Provider Reports of Genetic or Genomic Test Results |
9; 12 | — |
| SECONDARY Mean Baseline Self Efficacy Score |
4.5; 4.5; 4.6; 4.6 | — |
| SECONDARY Mean Pre-Clinic Visit 1 Self Efficacy Score |
4.6; 4.4; 4.5; 4.4 | — |
| SECONDARY Post-Return of Results Mean FACToR Uncertainty Subscale Score |
1.7; 2.4; 2.3; 2.2 | — |
| SECONDARY Vital Status at Final f/u |
28; 38; 35; 36; 0; 1 | — |
| SECONDARY Number of Child Participants With Causes of Death Unrelated to the Study |
0; 1; 0; 0 | — |
Summary
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.
Eligibility Criteria
Both children and parents are participants:
Inclusion Criteria
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.
Exclusion Criteria
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.
Data sourced from ClinicalTrials.gov (NCT03548779). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.