Clinical trial NCT03548779: North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Official title: North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
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
Lead sponsor: University of North Carolina, Chapel Hill
Sponsor class: OTHER
Collaborators: name: National Human Genome Research Institute (NHGRI)
name: East Carolina University
name: Mission Health System, Asheville, NC
First posted: 2018-06-07
Enrollment: 548
Sex: ALL
Minimum age (years): 0
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Primary purpose: DIAGNOSTIC

Brief 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.

Detailed description: The NCGENES 2 study is part of the "Clinical Sequencing Evidence-Generating Research (CSER2)" - Clinical Sites with Enhanced Diversity (U01), and brings together interdisciplinary experts from across North Carolina to address questions critical to the translation of genomic medicine to the care of patients with suspected genetic disorders.

In this renewal of the initial NCGENES study, NCGENES 2 will carry out a clinical trial of exome sequencing as a diagnostic test to answer the next set of questions vital to making genome-scale sequencing a routine clinical tool. The study population will be drawn from a state-wide network of Clinical Genetics and Pediatric Neurology clinics -- clinical domains in which patients are enriched for phenotypes caused by heterogeneous genetic conditions. Exome sequencing and genome sequencing (ES/GS) are efficient means of establishing a molecular diagnosis in these populations, with yields of positive or possible diagnostic results in at least 30% of patients examined based on findings from NCGENES and other work. Evidence will be generated regarding the clinical utility of ES/GS using a prospective randomized controlled trial that compares usual care plus exome sequencing to usual care. Patient-reported data, electronic health records data, and administrative claims data will be used to evaluate defined health outcomes, in collaboration with experts in health economics and health services research, to address pressing questions about the utility of exome sequencing. Furthermore, an examination of communication between patients and physicians, and between physicians and laboratories, and how these critical interactions affect the utility of genomic sequencing will be conducted. A second, nested randomized trial (crossed with exome sequencing in a full-factorial design) will be incorporated to test the hypothesis that a theory-based, multi-component pre-clinic preparation intervention for patients will improve patient-centered outcomes. An "embedded Ethical, Legal, and Social Implications (ELSI)" component will provide feedback to providers regarding communication discrepancies to iteratively improve care. Finally, the challenges of integrating clinical data and genomic information across a state-wide network of sites and examining different models of interaction between genomic clinicians and molecular diagnostic laboratorians will be explored.

Eligibility criteria: Both children and parents are participants:

Inclusion Criteria:

Parents meeting the following criteria:

1. Parent of a child who meets the criteria below
2. At least 18 years old.
3. Must be able to provide informed consent for child and self.
4. Must be fluent in English or Spanish.

Children meeting the following criteria:

1. Infants and children 15 years old or less.
2. Referred for initial evaluation of a possible monogenic disorder OR
3. Seen for evaluation of an undiagnosed disorder in a study-associated clinic.

Exclusion Criteria:

Parents:

1. Younger than 18 years old.
2. Unwilling to complete study surveys and other procedures.
3. Have cognitive or other impairments precluding ability to provide giving informed consent.
4. Not fluent in English or Spanish.
5. Unable to attend all clinic visits

Children:

1. Have a known genetic or non-genetic diagnosis (only referred for counseling or management).
2. Medically unstable.

Primary outcomes:
measure: Initial Patient Pediatric Quality of Life (Peds QL) Score
timeFrame: 4-6 weeks prior to clinic visit 1
measure: Final Patient Pediatric Quality of Life (Peds QL) Score
timeFrame: 6 months after return of results
measure: Initial Caregiver QoL Score
timeFrame: 4-6 weeks prior to clinic visit 1
measure: Intermediate Caregiver QoL Score
timeFrame: 2 weeks after return of results
measure: Final Caregiver QoL Score
timeFrame: 6 months after return of results
measure: Post-Clinic Visit 1 Mean Patient Centeredness Score
timeFrame: Immediately after clinic 1 day of visit 1
measure: Post-Return of Results Mean Patient Centeredness Score
timeFrame: 2 weeks after return of results
measure: Number of Questions Caregiver Asks in Clinic Visit 1
timeFrame: During clinic 1 day of visit 1
measure: Number of In-patient Hospital Admissions Among Child Participants 1 Year Prior to Return of Results
timeFrame: 1 year prior to return of results
measure: Number of In-patient Hospital Admissions Among Child Participants 1 Year After Return of Results
timeFrame: 1 year after return of results
measure: Number of In-patient Hospital Days Among Child Participants 1 Year Prior to Return of Results
timeFrame: 1 year prior to return of results
measure: Number of In-patient Hospital Days Among Child Participants 1 Year After Return of Results
timeFrame: 1 year after return of results
measure: Number of Long-term Care Admissions Among Child Participants 1 Year Prior to Return of Results
timeFrame: 1 year prior to return of results
measure: Number of Long-term Care Admissions Among Child Participants 1 Year After Return of Results
timeFrame: 1 year after return of results
measure: Number of Long-term Care Days Among Child Participants 1 Year Prior to Return of Results
timeFrame: 1 year prior to return of results
measure: Number of Long-term Care Days Among Child Participants 1 Year After Return of Results
timeFrame: 1 year after return of results
measure: Number of ER Visits Among Child Participants 1 Year Prior to Return of Results
timeFrame: 1 year prior to return of results
measure: Number of ER Visits Among Child Participants 1 Year After Return of Results
timeFrame: 1 year after return of results
measure: Number of Specialists Visits Among Child Participants 1 Year Prior to Return of Results
timeFrame: 1 year prior to return of results
measure: Number of Specialists Visits Among Child Participants 1 Year After Return of Results
timeFrame: 1 year after return of results
Secondary outcomes:
measure: Initial Average Peds QL Score for "Missing School for Not Feeling Well"
timeFrame: 4-6 weeks prior to clinic visit 1
measure: Final Average Peds QL Score for "Missing School for Not Feeling Well"
timeFrame: 6 months after return of results
measure: Initial Average Peds QL Score for "Missing School for Doctors Visit"
timeFrame: 4-6 weeks prior to clinic visit 1
measure: Final Average Peds QL Score for "Missing School for Doctors Visit"
timeFrame: 6 months after return of results
measure: Initial Amount of Work Missed Because of Child's Condition or Treatments Score
timeFrame: 4-6 weeks prior to clinic visit 1
measure: Final Amount of Work Missed Because of Child's Condition or Treatments Score
timeFrame: 6 months after return of results
measure: Initial Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score
timeFrame: 4-6 weeks prior to clinic visit 1
measure: Intermediate Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score
timeFrame: 2 weeks after return of results
measure: Final Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score
timeFrame: 6 months after return of results
measure: Percent Concordance of Caregiver and Provider Reports of Genetic or Genomic Test Results
timeFrame: 2 weeks after return of results
measure: Mean Baseline Self Efficacy Score
timeFrame: 4-6 weeks prior to clinic visit 1
measure: Mean Pre-Clinic Visit 1 Self Efficacy Score
timeFrame: Immediately before Clinic Visit 1
measure: Post-Return of Results Mean FACToR Uncertainty Subscale Score
timeFrame: 2 weeks after return of results
measure: Vital Status at Final f/u
timeFrame: Final follow-up, up to approximately three years after clinic visit 1
measure: Number of Child Participants With Causes of Death Unrelated to the Study
timeFrame: Final follow-up, up to approximately three years after clinic visit 1
Other outcomes:
Locations:
city: Asheville
country: United States
facility: Mission Health
state: North Carolina
city: Chapel Hill
country: United States
facility: University of North Carolina at Chapel Hill
state: North Carolina
city: Greenville
country: United States
facility: East Carolina University
state: North Carolina
Study officials:
affiliation: University of North Carolina, Chapel Hill
name: Jeannette T Bensen, Ph.D
role: STUDY_DIRECTOR
affiliation: University of North Carolina, Chapel Hill
name: Jonathan S Berg, MD, PhD
role: PRINCIPAL_INVESTIGATOR
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