Epilepsy; SeizureNCGENES2NCT03548779
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
A study testing Pre-visit prep in people with Epilepsy; Seizure and Neuromuscular Diseases, run by University of North Carolina, Chapel Hill at 3 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 years and older
- Conditions the study is for
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation
- What is being tested?
- Pre-visit prep
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 548 participants
- Where
- 3 sitesUnited States
- Study dates
- 28 Sep 2018to 8 Sep 2024
- Phase
- Interventional
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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:
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- 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.
Who cannot join
- 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
Show all 9Show fewer
- Children:
- Have a known genetic or non-genetic diagnosis (only referred for counseling or management).
- Medically unstable.
Trial locations and contacts
3 sites in 1 country.
United States3 sites
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
About this study
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.
Read the 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.
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia
- Being tested
- Pre-visit prep, usual care + exome seq
- Medical subject headings
- Epilepsy, Neuromuscular Diseases, Intellectual Disability, Autism Spectrum Disorder, Muscle Hypotonia, Metabolism, Inborn Errors, Movement Disorders, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Pre-visit prepBehavioural
Patient and provider surveys will be used to measure the impact of pre-visit preparation on the primary outcomes of engagement of participants in the clinical interaction and their view of the interaction as patient-centered, in addition to secondary outcomes that may be affected by this intervention (described above). The study investigators will test the hypothesis that patients will benefit from pre-visit preparation by: (1) rating their clinical encounters as more patient-centered and (2) asking more questions during their clinical encounters.
usual care + exome seqDiagnostic test
Provider surveys will be used to assess impact of exome sequencing on diagnostic thinking and management planning. Health utilization and condition-specific general clinical outcomes will be assessed from health records data.
| Study group | Role | What they receive |
|---|---|---|
| Pre-visit prep / usual care + exome seq | Experimental | Participants randomized to pre-visit prep will receive a study packet with educational materials and a question prompt list. These participants will be instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to their clinic visit 1 appointment.
Participants will receive usual care and will be offered research exome sequencing. Receives: Behavioral: Pre-visit prep; Diagnostic Test: usual care + exome seq |
| Pre-visit prep / usual care | Experimental | Participants randomized to pre-visit prep will receive a study packet with educational materials and a question prompt list. These participants will be instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to their clinic visit 1 appointment.
Participants will receive usual care. Receives: Behavioral: Pre-visit prep |
| No prep / usual care + exome seq | Experimental | Participants in the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit.
Participants will receive usual care and will be offered research exome sequencing. Receives: Diagnostic Test: usual care + exome seq |
| No prep / usual care | No intervention | Participants in the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit. Participants will receive usual care. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Initial Patient Pediatric Quality of Life (Peds QL) Score
The Peds QL Measurement Model for the Pediatric Quality of Inventory measures the core dimensions of health as delineated by the World Health Organization as well as role (school) functioning. The 23-item PedsQL Core Scales (Physical Functioning, Emotional Functioning, Social Functioning, and School Functioning) are developmentally appropriate surveys (Ages 2-4, 5-7, 8-12, 13-18) designed for parent proxy report. The 23 items are grouped together on the questionnaire, and are answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better Health-Related Quality of Life (HRQOL). This questionnaire will be self-administered at home.
Measured: 4-6 weeks prior to clinic visit 1
Final Patient Pediatric Quality of Life (Peds QL) Score
The Peds QL Measurement Model for the Pediatric Quality of Inventory measures the core dimensions of health as delineated by the World Health Organization as well as role (school) functioning. The 23-item PedsQL Core Scales (Physical Functioning, Emotional Functioning, Social Functioning, and School Functioning) are developmentally appropriate surveys (Ages 2-4, 5-7, 8-12, 13-18) designed for parent proxy report. The 23 items are grouped together on the questionnaire, and are answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL. This questionnaire will be interviewer administered by telephone.
Measured: 6 months after return of results
Initial Caregiver QoL Score
The Short-Form Health Survey (SF-12) questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be self-administered at home.
Measured: 4-6 weeks prior to clinic visit 1
Intermediate Caregiver QoL Score
The SF-12 questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be interviewer administered by telephone.
Measured: 2 weeks after return of results
Final Caregiver QoL Score
The SF-12 questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be interviewer administered by telephone.
Measured: 6 months after return of results
Post-Clinic Visit 1 Mean Patient Centeredness Score
Patient centeredness scale, which measures the caregiver's perception of the level of patient centeredness of their visit with their child's provider (developed by Little et al., 2001). Self-administered in the clinic, immediately after clinic visit 1. Item responses will be coded as: 1=Very strongly disagree; 2=Strongly disagree; 3=Moderately disagree; 4=Neither agree nor disagree; 5=Moderately agree; 6=Strongly agree; 7=Very strongly agree. Response values will be summed and divided by the total number of items (21) to obtain mean scores ranging from 0-7 where higher values indicate stronger perceptions of patient centeredness.
Measured: Immediately after clinic 1 day of visit 1
Post-Return of Results Mean Patient Centeredness Score
Patient centeredness scale, which measures the caregiver's perception of the level of patient centeredness of their visit with their child's provider (developed by Little et al., 2001). Self-administered in the clinic, immediately after clinic visit 1. Item responses will be coded as: 1=Very strongly disagree; 2=Strongly disagree; 3=Moderately disagree; 4=Neither agree nor disagree; 5=Moderately agree; 6=Strongly agree; 7=Very strongly agree. Response values will be summed and divided by the total number of items (21) to obtain mean scores ranging from 0-7 where higher values indicate stronger perceptions of patient centeredness.
Measured: 2 weeks after return of results
Number of Questions Caregiver Asks in Clinic Visit 1
Count of number of questions caregiver asks provider in the audio recording of clinic visit 1. Coded by trained study staff.
Measured: During clinic 1 day of visit 1
Number of In-patient Hospital Admissions Among Child Participants 1 Year Prior to Return of Results
Count of number of in-patient hospital admissions among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants.
Measured: 1 year prior to return of results
Number of In-patient Hospital Admissions Among Child Participants 1 Year After Return of Results
Count of number of in-patient hospital admissions among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants.
Measured: 1 year after return of results
Number of In-patient Hospital Days Among Child Participants 1 Year Prior to Return of Results
Count of number of in-patient hospital days among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants.
Measured: 1 year prior to return of results
Number of In-patient Hospital Days Among Child Participants 1 Year After Return of Results
Count of number of in-patient hospital days among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants.
Measured: 1 year after return of results
Number of Long-term Care Admissions Among Child Participants 1 Year Prior to Return of Results
Count of number of long-term care admissions among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants.
Measured: 1 year prior to return of results
Number of Long-term Care Admissions Among Child Participants 1 Year After Return of Results
Count of number of long-term care admissions among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants.
Measured: 1 year after return of results
Number of Long-term Care Days Among Child Participants 1 Year Prior to Return of Results
Count of number of long-term care days among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants.
Measured: 1 year prior to return of results
Number of Long-term Care Days Among Child Participants 1 Year After Return of Results
Count of number of long-term care days during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants.
Measured: 1 year after return of results
Number of ER Visits Among Child Participants 1 Year Prior to Return of Results
Count of number of ER visits during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants.
Measured: 1 year prior to return of results
Number of ER Visits Among Child Participants 1 Year After Return of Results
Count of number of ER visits during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants.
Measured: 1 year after return of results
Number of Specialists Visits Among Child Participants 1 Year Prior to Return of Results
Count of number of specialists visits during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants.
Measured: 1 year prior to return of results
Number of Specialists Visits Among Child Participants 1 Year After Return of Results
Count of number of specialists visits during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants.
Measured: 1 year after return of results
Secondary outcomes (15)
Initial Average Peds QL Score for "Missing School for Not Feeling Well"
This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This questionnaire will be self-administered at home.
Measured: 4-6 weeks prior to clinic visit 1
Final Average Peds QL Score for "Missing School for Not Feeling Well"
This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This questionnaire will be interviewer-administered by telephone.
Measured: 6 months after return of results
Initial Average Peds QL Score for "Missing School for Doctors Visit"
This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This measure will be included in the questionnaire that will be self-administered at home.
Measured: 4-6 weeks prior to clinic visit 1
Final Average Peds QL Score for "Missing School for Doctors Visit"
This is a single item measure from the Peds QL that will be answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL for this single measure. This measure will be interviewer administered by telephone.
Measured: 6 months after return of results
Initial Amount of Work Missed Because of Child's Condition or Treatments Score
This is a single item measure that will be answered on a scale of 1-6 where 1=None, 2=Less than a week, 3=Between 1 and 4 weeks, 4= Between 4 and 8 weeks, 5=Between 8 and 12 weeks, 6=I stopped working altogether. Higher scores indicate greater amounts of work missed because of the child's condition or treatments. This measure will be included in the questionnaire that will be self-administered at home.
Measured: 4-6 weeks prior to clinic visit 1
Final Amount of Work Missed Because of Child's Condition or Treatments Score
This is a single item measure that will be answered on a scale of 1-6 where 1=None, 2=Less than a week, 3=Between 1 and 4 weeks, 4= Between 4 and 8 weeks, 5=Between 8 and 12 weeks, 6=I stopped working altogether. Higher scores indicate greater amounts of work missed because of the child's condition or treatments. This measure will be interviewer-administered by telephone.
Measured: 6 months after return of results
Initial Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score
This is a single item measure that will be answered on a scale of 1-5, where 1=Not at all, 2=A little bit, 3=Somewhat, 4=Quite a bit, 5=Very much. Higher scores indicate greater difficulty finishing normal work (including both work outside of the home and housework) because of child's condition or treatments. This measure will be included in the questionnaire that will be self-administered at home.
Measured: 4-6 weeks prior to clinic visit 1
Intermediate Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score
This is a single item measure that will be answered on a scale of 1-5, where 1=Not at all, 2=A little bit, 3=Somewhat, 4=Quite a bit, 5=Very much. Higher scores indicate greater difficulty finishing normal work (including both work outside of the home and housework) because of child's condition or treatments. This measure will be interviewer-administered by telephone.
Measured: 2 weeks after return of results
Final Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score
This is a single item measure that will be answered on a scale of 1-5, where 1=Not at all, 2=A little bit, 3=Somewhat, 4=Quite a bit, 5=Very much. Higher scores indicate greater difficulty finishing normal work (including both work outside of the home and housework) because of child's condition or treatments. This measure will be interviewer-administered by telephone.
Measured: 6 months after return of results
Percent Concordance of Caregiver and Provider Reports of Genetic or Genomic Test Results
Concordance between caregiver and provider reports of whether patients' diagnostic results were positive, negative, or uncertain. Coded as a dichotomous variable: 0=discordant diagnostic reports; 1=concordant diagnostic reports. Results are given as the number of parent/caregiver participant responses for each group that were concordant with the provider's diagnostic interpretation of the exome results.
Measured: 2 weeks after return of results
Mean Baseline Self Efficacy Score
Self-efficacy scale, which measures caregivers' confidence in communicating with their child's provider. Self-administered as part of the intake questionnaire. Measured with adapted Decision Self Efficacy Scale (developed by O'Connor, 1995). Adapted wording from the original scale so items refer to general communication, as opposed to a specific decision. Shorted scale to 7 items from 11 since not all items were applicable to this study. Item responses will be coded as: 1=Not at all confident; 5=Very confident. Mean scores will be calculated by summing the response values and dividing by the total number of items (7). Higher scores indicate higher confidence in communicating with their child's provider.
Measured: 4-6 weeks prior to clinic visit 1
Mean Pre-Clinic Visit 1 Self Efficacy Score
Self-efficacy scale, which measures caregivers' confidence in communicating with their child's provider. Self-administered as part of the intake questionnaire. Measured with adapted Decision Self Efficacy Scale (developed by O'Connor, 1995). Adapted wording from the original scale so items refer to general communication, as opposed to a specific decision. Shorted scale to 7 items from 11 since not all items were applicable to this study. Item responses will be coded as: 1=Not at all confident; 5=Very confident. Mean scores will be calculated by summing the response values and dividing by the total number of items (7). Higher scores indicate higher confidence in communicating with their child's provider.
Measured: Immediately before Clinic Visit 1
Post-Return of Results Mean FACToR Uncertainty Subscale Score
Subscale of the Feeling About genomiC Testing Results measure assesses caregivers' level of uncertainty about their child's genetic test results (developed by Gallego et al., 2014). Interviewer administered by telephone. Item responses will be coded as: 1=Not at all; 2=A little; 3=Somewhat; 4=A good deal; 5=A great deal. Mean scores will be calculated by summing the response values and dividing by the total number of items (3). Higher scores indicate greater uncertainty about their child's genetic test results.
Measured: 2 weeks after return of results
Vital Status at Final f/u
Based on NC Vital Statistics, the child's vital status will be reported as living or deceased.
Measured: Final follow-up, up to approximately three years after clinic visit 1
Number of Child Participants With Causes of Death Unrelated to the Study
Child causes of death related to the primary condition based on NC Vital Statistics, child causes of death will be reported as related to the disorder of the child or not related to the disorder of the child.
Measured: Final follow-up, up to approximately three years after clinic visit 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Jun 2018
- Study start28 Sep 2018
- Primary completion8 Sep 2023
- Study completion8 Sep 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Publications (62)Papers the sponsor has linked to this study.
- Other trials for Epilepsy; SeizureStudies of the same condition, open and under way.
- More trials run by University of North Carolina, Chapel HillThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind
- Who is masked
- Care provider, Outcomes assessor
- Enrolment
- 548 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of North Carolina, Chapel Hill
- Sponsor type
- University, hospital or other
- Collaborators
- National Human Genome Research Institute (NHGRI), East Carolina University, Mission Health System, Asheville, NC
- Responsible party
- Sponsor
- Investigators
- Jeannette T Bensen, Ph.D, Study director, University of North Carolina, Chapel HillJonathan S Berg, MD, PhD, Principal investigator, University of North Carolina, Chapel Hill
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03548779
- Sponsor's protocol ID
- 17-0816
- Other IDs
- U01HG006487
- Acronym
- NCGENES2
- Status last verified
- Feb 2024
- First submitted
- 24 May 2018
- Last updated
- 13 May 2025
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
- Individual data sharing
- Yes: This study will comply with NIH mandates to share genetic data via submission of raw genotype calls from whole exome sequencing to the database of Genotypes and Phenotypes (dbGaP). All data that is submitted to dbGaP, including individual participant data, is anonymous and includes demographic variables: age of onset, birthplace, sex, race, education level, age. Data is uploaded in batches to the dbGaP website. Individual-level de-identified coded data will be available to investigators outside of the study team at the end of the study after publication of primary results. Investigators will apply for data by formal submission of a letter of intent that will be reviewed and approved by the study leadership. Investigators of approved projects will sign an inter-institution data sharing agreement (for investigators outside of the studies parent institution). The analytic data set will be shared with the investigator via a secure server restricted by password access.
Publications
Aboumatar HJ, Carson KA, Beach MC, Roter DL, Cooper LA. The impact of health literacy on desire for participation in healthcare, medical visit communication, and patient reported outcomes among patients with hypertension. J Gen Intern Med. 2013 Nov;28(11):1469-76. doi: 10.1007/s11606-013-2466-5. Epub 2013 May 21.
PubMed 23690237ACMG Board of Directors. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2015 Jun;17(6):505-7. doi: 10.1038/gim.2015.41. Epub 2015 Mar 12.
PubMed 25764213Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.
PubMed 25637381Barnett ML, Landon BE, O'Malley AJ, Keating NL, Christakis NA. Mapping physician networks with self-reported and administrative data. Health Serv Res. 2011 Oct;46(5):1592-609. doi: 10.1111/j.1475-6773.2011.01262.x. Epub 2011 Apr 26.
PubMed 21521213Bates BR. Public culture and public understanding of genetics: a focus group study. Public Underst Sci. 2005 Jan;14(1):47-65. doi: 10.1177/0963662505048409.
PubMed 15822248Berg JS, Adams M, Nassar N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP. An informatics approach to analyzing the incidentalome. Genet Med. 2013 Jan;15(1):36-44. doi: 10.1038/gim.2012.112. Epub 2012 Sep 20.
PubMed 22995991Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. Genet Med. 2016 May;18(5):467-75. doi: 10.1038/gim.2015.104. Epub 2015 Aug 13.
PubMed 26270767Black KZ, Hardy CY, De Marco M, Ammerman AS, Corbie-Smith G, Council B, Ellis D, Eng E, Harris B, Jackson M, Jean-Baptiste J, Kearney W, Legerton M, Parker D, Wynn M, Lightfoot A. Beyond incentives for involvement to compensation for consultants: increasing equity in CBPR approaches. Prog Community Health Partnersh. 2013 Fall;7(3):263-70. doi: 10.1353/cpr.2013.0040.
PubMed 24056508Brandes K, Linn AJ, Butow PN, van Weert JC. The characteristics and effectiveness of Question Prompt List interventions in oncology: a systematic review of the literature. Psychooncology. 2015 Mar;24(3):245-52. doi: 10.1002/pon.3637. Epub 2014 Jul 31.
PubMed 25082386Burkett K, Morris E, Manning-Courtney P, Anthony J, Shambley-Ebron D. African American families on autism diagnosis and treatment: the influence of culture. J Autism Dev Disord. 2015 Oct;45(10):3244-54. doi: 10.1007/s10803-015-2482-x.
PubMed 26055985Bussey-Jones J, Garrett J, Henderson G, Moloney M, Blumenthal C, Corbie-Smith G. The role of race and trust in tissue/blood donation for genetic research. Genet Med. 2010 Feb;12(2):116-21. doi: 10.1097/GIM.0b013e3181cd6689.
PubMed 20098329Catz DS, Green NS, Tobin JN, Lloyd-Puryear MA, Kyler P, Umemoto A, Cernoch J, Brown R, Wolman F. Attitudes about genetics in underserved, culturally diverse populations. Community Genet. 2005;8(3):161-72. doi: 10.1159/000086759.
PubMed 16113533Clayton JM, Butow PN, Tattersall MH, Devine RJ, Simpson JM, Aggarwal G, Clark KJ, Currow DC, Elliott LM, Lacey J, Lee PG, Noel MA. Randomized controlled trial of a prompt list to help advanced cancer patients and their caregivers to ask questions about prognosis and end-of-life care. J Clin Oncol. 2007 Feb 20;25(6):715-23. doi: 10.1200/JCO.2006.06.7827.
PubMed 17308275Corbie-Smith G, Thomas SB, St George DM. Distrust, race, and research. Arch Intern Med. 2002 Nov 25;162(21):2458-63. doi: 10.1001/archinte.162.21.2458.
PubMed 12437405Cunningham-Burley S. Public knowledge and public trust. Community Genet. 2006;9(3):204-10. doi: 10.1159/000092658.
PubMed 16741351
Study at a glance
From the registry record, last updated by the sponsor on 13 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
- ClinicalTrials.gov ID
- NCT03548779
- Acronym / sponsor ID
- NCGENES2 / 17-0816
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability, Autism Spectrum Disorder, Hypotonia
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 548 participants (actual)
- Lead sponsor
- University of North Carolina, Chapel HillUniversity, hospital or other
- Collaborators
- National Human Genome Research Institute (NHGRI), East Carolina University, Mission Health System, Asheville, NC
- Study start
- 28 Sep 2018 (actual)
- Primary completion
- 8 Sep 2023 (actual)
- Study completion
- 8 Sep 2024 (actual)
- First posted
- 7 Jun 2018 (actual)
- Results
- Posted 13 May 2025
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind (care provider, outcomes assessor)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Pre-visit prep / usual care + exome seq | Experimental | Behavioral: Pre-visit prep, Diagnostic Test: usual care + exome seqParticipants randomized to pre-visit prep will receive a study packet with educational materials and a question prompt list. These participants will be instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to their clinic visit 1 appointment. Participants will receive usual care and will be offered research exome sequencing. |
| Pre-visit prep / usual care | Experimental | Behavioral: Pre-visit prepParticipants randomized to pre-visit prep will receive a study packet with educational materials and a question prompt list. These participants will be instructed to review the materials, discuss them with family members if desired, use the question prompt list to select questions they would like to ask at clinic visit 1, and bring the list to their clinic visit 1 appointment. Participants will receive usual care. |
| No prep / usual care + exome seq | Experimental | Diagnostic Test: usual care + exome seqParticipants in the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit. Participants will receive usual care and will be offered research exome sequencing. |
| No prep / usual care | No intervention | –Participants in the no pre-visit preparation arm will receive a mailed card reminding them about their upcoming clinic visit. Participants will receive usual care. |
Who may qualify
- Ages
- 0 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (9 listed)
- 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.
- Infants and children 15 years old or less.
Key exclusion criteria (9 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Pre-visit prepPatient and provider surveys will be used to measure the impact of pre-visit preparation on the primary outcomes of engagement of participants in the clinical interaction and their view of the interaction as patient-centered, in addition to secondary outcomes that may be affected by this intervention (described above). The study investigators will test the hypothesis that patients will benefit from pre-visit preparation by: (1) rating their clinical encounters as more patient-centered and (2) asking more questions during their clinical encounters. | Behavioural | Pre-visit prep / usual care, Pre-visit prep / usual care + exome seq |
| usual care + exome seqProvider surveys will be used to assess impact of exome sequencing on diagnostic thinking and management planning. Health utilization and condition-specific general clinical outcomes will be assessed from health records data. | Diagnostic test | No prep / usual care + exome seq, Pre-visit prep / usual care + exome seq |
Primary outcome
Initial Patient Pediatric Quality of Life (Peds QL) Score
Time frame: 4-6 weeks prior to clinic visit 1
The Peds QL Measurement Model for the Pediatric Quality of Inventory measures the core dimensions of health as delineated by the World Health Organization as well as role (school) functioning. The 23-item PedsQL Core Scales (Physical Functioning, Emotional Functioning, Social Functioning, and School Functioning) are developmentally appropriate surveys (Ages 2-4, 5-7, 8-12, 13-18) designed for parent proxy report. The 23 items are grouped together on the questionnaire, and are answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better Health-Related Quality of Life (HRQOL). This questionnaire will be self-administered at home.
Final Patient Pediatric Quality of Life (Peds QL) Score
Time frame: 6 months after return of results
The Peds QL Measurement Model for the Pediatric Quality of Inventory measures the core dimensions of health as delineated by the World Health Organization as well as role (school) functioning. The 23-item PedsQL Core Scales (Physical Functioning, Emotional Functioning, Social Functioning, and School Functioning) are developmentally appropriate surveys (Ages 2-4, 5-7, 8-12, 13-18) designed for parent proxy report. The 23 items are grouped together on the questionnaire, and are answered on a scale of 0-4. Items are reversed scored and linearly transformed to a 0-100 scale (0=100, 1=75, 2=50, 3=25, 4=0), so that higher scores indicate better HRQOL. This questionnaire will be interviewer administered by telephone.
Initial Caregiver QoL Score
Time frame: 4-6 weeks prior to clinic visit 1
The Short-Form Health Survey (SF-12) questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be self-administered at home.
Intermediate Caregiver QoL Score
Time frame: 2 weeks after return of results
The SF-12 questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be interviewer administered by telephone.
Final Caregiver QoL Score
Time frame: 6 months after return of results
The SF-12 questionnaire is a reliable measure of perceived health that describes the degree of general physical health status and mental health distress. It consists of 12 items, derived from the physical and mental domains. Scores have a range of 0 to 100 and were designed to have a mean score of 50 and a standard deviation of 10 in a representative sample of the US population, with higher scores indicating greater functioning. This questionnaire will be interviewer administered by telephone.
Post-Clinic Visit 1 Mean Patient Centeredness Score
Time frame: Immediately after clinic 1 day of visit 1
Patient centeredness scale, which measures the caregiver's perception of the level of patient centeredness of their visit with their child's provider (developed by Little et al., 2001). Self-administered in the clinic, immediately after clinic visit 1. Item responses will be coded as: 1=Very strongly disagree; 2=Strongly disagree; 3=Moderately disagree; 4=Neither agree nor disagree; 5=Moderately agree; 6=Strongly agree; 7=Very strongly agree. Response values will be summed and divided by the total number of items (21) to obtain mean scores ranging from 0-7 where higher values indicate stronger perceptions of patient centeredness.
Post-Return of Results Mean Patient Centeredness Score
Time frame: 2 weeks after return of results
Patient centeredness scale, which measures the caregiver's perception of the level of patient centeredness of their visit with their child's provider (developed by Little et al., 2001). Self-administered in the clinic, immediately after clinic visit 1. Item responses will be coded as: 1=Very strongly disagree; 2=Strongly disagree; 3=Moderately disagree; 4=Neither agree nor disagree; 5=Moderately agree; 6=Strongly agree; 7=Very strongly agree. Response values will be summed and divided by the total number of items (21) to obtain mean scores ranging from 0-7 where higher values indicate stronger perceptions of patient centeredness.
Number of Questions Caregiver Asks in Clinic Visit 1
Time frame: During clinic 1 day of visit 1
Count of number of questions caregiver asks provider in the audio recording of clinic visit 1. Coded by trained study staff.
Number of In-patient Hospital Admissions Among Child Participants 1 Year Prior to Return of Results
Time frame: 1 year prior to return of results
Count of number of in-patient hospital admissions among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants.
Number of In-patient Hospital Admissions Among Child Participants 1 Year After Return of Results
Time frame: 1 year after return of results
Count of number of in-patient hospital admissions among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants.
Number of In-patient Hospital Days Among Child Participants 1 Year Prior to Return of Results
Time frame: 1 year prior to return of results
Count of number of in-patient hospital days among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants.
Number of In-patient Hospital Days Among Child Participants 1 Year After Return of Results
Time frame: 1 year after return of results
Count of number of in-patient hospital days among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants.
Number of Long-term Care Admissions Among Child Participants 1 Year Prior to Return of Results
Time frame: 1 year prior to return of results
Count of number of long-term care admissions among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants.
Number of Long-term Care Admissions Among Child Participants 1 Year After Return of Results
Time frame: 1 year after return of results
Count of number of long-term care admissions among child participants during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Admissions were summed across all participants.
Number of Long-term Care Days Among Child Participants 1 Year Prior to Return of Results
Time frame: 1 year prior to return of results
Count of number of long-term care days among child participants during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants.
Number of Long-term Care Days Among Child Participants 1 Year After Return of Results
Time frame: 1 year after return of results
Count of number of long-term care days during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Days were summed across all participants.
Number of ER Visits Among Child Participants 1 Year Prior to Return of Results
Time frame: 1 year prior to return of results
Count of number of ER visits during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants.
Number of ER Visits Among Child Participants 1 Year After Return of Results
Time frame: 1 year after return of results
Count of number of ER visits during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants.
Number of Specialists Visits Among Child Participants 1 Year Prior to Return of Results
Time frame: 1 year prior to return of results
Count of number of specialists visits during 1 year prior to return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants.
Number of Specialists Visits Among Child Participants 1 Year After Return of Results
Time frame: 1 year after return of results
Count of number of specialists visits during 1 year after return of results using data obtained from the Electronic Medical Record. Coded by trained study staff. Visits were summed across all participants.
15 secondary outcomes
Initial Average Peds QL Score for "Missing School for Not Feeling Well"
Time frame: 4-6 weeks prior to clinic visit 1
Final Average Peds QL Score for "Missing School for Not Feeling Well"
Time frame: 6 months after return of results
Initial Average Peds QL Score for "Missing School for Doctors Visit"
Time frame: 4-6 weeks prior to clinic visit 1
Final Average Peds QL Score for "Missing School for Doctors Visit"
Time frame: 6 months after return of results
Initial Amount of Work Missed Because of Child's Condition or Treatments Score
Time frame: 4-6 weeks prior to clinic visit 1
Final Amount of Work Missed Because of Child's Condition or Treatments Score
Time frame: 6 months after return of results
Initial Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score
Time frame: 4-6 weeks prior to clinic visit 1
Intermediate Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score
Time frame: 2 weeks after return of results
Final Difficulty With Finishing Normal Work (Including Both Work Outside of the Home and Housework) Because of Child's Condition or Treatments Score
Time frame: 6 months after return of results
Percent Concordance of Caregiver and Provider Reports of Genetic or Genomic Test Results
Time frame: 2 weeks after return of results
Mean Baseline Self Efficacy Score
Time frame: 4-6 weeks prior to clinic visit 1
Mean Pre-Clinic Visit 1 Self Efficacy Score
Time frame: Immediately before Clinic Visit 1
Post-Return of Results Mean FACToR Uncertainty Subscale Score
Time frame: 2 weeks after return of results
Vital Status at Final f/u
Time frame: Final follow-up, up to approximately three years after clinic visit 1
Number of Child Participants With Causes of Death Unrelated to the Study
Time frame: Final follow-up, up to approximately three years after clinic visit 1
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 May 2025.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Background: PubMed 23690237Aboumatar HJ, Carson KA, Beach MC, Roter DL, Cooper LA. The impact of health literacy on desire for participation in healthcare, medical visit communication, and patient reported outcomes among patients with hypertension. J Gen Intern Med. 2013 Nov;28(11):1469-76. doi: 10.1007/s11606-013-2466-5. Epub 2013 May 21.
- Background: PubMed 25764213ACMG Board of Directors. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2015 Jun;17(6):505-7. doi: 10.1038/gim.2015.41. Epub 2015 Mar 12.
- Background: PubMed 25637381Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.
- Background: PubMed 21521213Barnett ML, Landon BE, O'Malley AJ, Keating NL, Christakis NA. Mapping physician networks with self-reported and administrative data. Health Serv Res. 2011 Oct;46(5):1592-609. doi: 10.1111/j.1475-6773.2011.01262.x. Epub 2011 Apr 26.
- Background: PubMed 15822248Bates BR. Public culture and public understanding of genetics: a focus group study. Public Underst Sci. 2005 Jan;14(1):47-65. doi: 10.1177/0963662505048409.
- Background: PubMed 22995991Berg JS, Adams M, Nassar N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP. An informatics approach to analyzing the incidentalome. Genet Med. 2013 Jan;15(1):36-44. doi: 10.1038/gim.2012.112. Epub 2012 Sep 20.
- Background: PubMed 26270767Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. Genet Med. 2016 May;18(5):467-75. doi: 10.1038/gim.2015.104. Epub 2015 Aug 13.
- Background: PubMed 24056508Black KZ, Hardy CY, De Marco M, Ammerman AS, Corbie-Smith G, Council B, Ellis D, Eng E, Harris B, Jackson M, Jean-Baptiste J, Kearney W, Legerton M, Parker D, Wynn M, Lightfoot A. Beyond incentives for involvement to compensation for consultants: increasing equity in CBPR approaches. Prog Community Health Partnersh. 2013 Fall;7(3):263-70. doi: 10.1353/cpr.2013.0040.
- Background: PubMed 25082386Brandes K, Linn AJ, Butow PN, van Weert JC. The characteristics and effectiveness of Question Prompt List interventions in oncology: a systematic review of the literature. Psychooncology. 2015 Mar;24(3):245-52. doi: 10.1002/pon.3637. Epub 2014 Jul 31.
- Background: PubMed 26055985Burkett K, Morris E, Manning-Courtney P, Anthony J, Shambley-Ebron D. African American families on autism diagnosis and treatment: the influence of culture. J Autism Dev Disord. 2015 Oct;45(10):3244-54. doi: 10.1007/s10803-015-2482-x.
- Background: PubMed 20098329Bussey-Jones J, Garrett J, Henderson G, Moloney M, Blumenthal C, Corbie-Smith G. The role of race and trust in tissue/blood donation for genetic research. Genet Med. 2010 Feb;12(2):116-21. doi: 10.1097/GIM.0b013e3181cd6689.
- Background: PubMed 16113533Catz DS, Green NS, Tobin JN, Lloyd-Puryear MA, Kyler P, Umemoto A, Cernoch J, Brown R, Wolman F. Attitudes about genetics in underserved, culturally diverse populations. Community Genet. 2005;8(3):161-72. doi: 10.1159/000086759.
- Ales M, Luca L, Marija V, Gorazd R, Karin W, Ana B, Alenka H, Peterlin B. Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation. Genet Med \[Internet\]. 2016 Mar 31 \[cited 2016 Aug 3\]Link provided by the sponsor.
- Individual participant dataSharing planned: Yes. This study will comply with NIH mandates to share genetic data via submission of raw genotype calls from whole exome sequencing to the database of Genotypes and Phenotypes (dbGaP). All data that is submitted to dbGaP, including individual participant data, is anonymous and includes demographic variables: age of onset, birthplace, sex, race, education level, age. Data is uploaded in batches to the dbGaP website. Individual-level de-identified coded data will be available to investigators outside of the study team at the end of the study after publication of primary results. Investigators will apply for data by formal submission of a letter of intent that will be reviewed and approved by the study leadership. Investigators of approved projects will sign an inter-institution data sharing agreement (for investigators outside of the studies parent institution). The analytic data set will be shared with the investigator via a secure server restricted by password access.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jeannette T Bensen, Ph.D study director
University of North Carolina, Chapel Hill
Jonathan S Berg, MD, PhD principal investigator
University of North Carolina, Chapel Hill
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Pre-visit prep in people with Epilepsy; Seizure and Neuromuscular Diseases, run by University of North Carolina, Chapel Hill at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 13 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Yes. Results are posted in the registry (first posted 13 May 2025). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Initial Patient Pediatric Quality of Life (Peds QL) Score (time frame: 4-6 weeks prior to clinic visit 1). The study lists 20 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03548779, which also lists 62 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 May 2025.