North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

Browse trials for

• Epilepsy 1,848
• Neuromuscular Diseases 361
• Intellectual Disability 387
• Autism Spectrum Disorder 1,724
• Muscle Hypotonia 66
• Metabolism, Inborn Errors 152

Epilepsy

1,848 studies on the registry are indexed under Epilepsy; 422 are open to participants now.

This study's enrollment of 548 is above the median of 50 across 1,239 interventional studies indexed under Epilepsy.

Lead sponsor

University of North Carolina, Chapel Hill is the lead sponsor of 1,372 studies on the registry; 133 are open to participants now.

Of its 161 completed or terminated interventional studies of FDA-regulated products, 139 (86%) have results posted.

Study arms

• Experimental
  Pre-visit prep / usual care + exome seq

  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.

  Behavioral: Pre-visit prep · Diagnostic Test: usual care + exome seq

• Experimental
  Pre-visit prep / usual care

  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.

  Behavioral: Pre-visit prep

• Experimental
  No prep / usual care + exome seq

  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.

  Diagnostic Test: usual care + exome seq

• No intervention
  No prep / usual care

  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.

Interventions

• BehavioralPre-visit prep

  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.

• Diagnostic testusual care + exome seq

  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.

Primary outcomes

1. 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.

   Time frame: 4-6 weeks prior to clinic visit 1

2. 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.

   Time frame: 6 months after return of results

3. 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.

   Time frame: 4-6 weeks prior to clinic visit 1

4. 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.

   Time frame: 2 weeks after return of results

5. 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.

   Time frame: 6 months after return of results

6. 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.

   Time frame: Immediately after clinic 1 day of visit 1

7. 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.

   Time frame: 2 weeks after return of results

8. 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.

   Time frame: During clinic 1 day of visit 1

9. 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.

   Time frame: 1 year prior to return of results

10. 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.

    Time frame: 1 year after return of results

11. 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.

    Time frame: 1 year prior to return of results

12. 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.

    Time frame: 1 year after return of results

13. 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.

    Time frame: 1 year prior to return of results

14. 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.

    Time frame: 1 year after return of results

15. 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.

    Time frame: 1 year prior to return of results

16. 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.

    Time frame: 1 year after return of results

17. 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.

    Time frame: 1 year prior to return of results

18. 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.

    Time frame: 1 year after return of results

19. 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.

    Time frame: 1 year prior to return of results

20. 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.

    Time frame: 1 year after return of results

Secondary outcomes

1. 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.

   Time frame: 4-6 weeks prior to clinic visit 1

2. 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.

   Time frame: 6 months after return of results

3. 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.

   Time frame: 4-6 weeks prior to clinic visit 1

4. 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.

   Time frame: 6 months after return of results

5. 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.

   Time frame: 4-6 weeks prior to clinic visit 1

6. 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.

   Time frame: 6 months after return of results

7. 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.

   Time frame: 4-6 weeks prior to clinic visit 1

8. 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.

   Time frame: 2 weeks after return of results

9. 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.

   Time frame: 6 months after return of results

10. 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.

    Time frame: 2 weeks after return of results

11. 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.

    Time frame: 4-6 weeks prior to clinic visit 1

12. 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.

    Time frame: Immediately before Clinic Visit 1

13. 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.

    Time frame: 2 weeks after return of results

14. Vital Status at Final f/u

    Based on NC Vital Statistics, the child's vital status will be reported as living or deceased.

    Time frame: Final follow-up, up to approximately three years after clinic visit 1

15. 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.

    Time frame: Final follow-up, up to approximately three years after clinic visit 1

Baseline characteristics

Publications

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Related links

• 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 \[cited 2016 Aug 3\] ↗

Study documents

• Study protocol ↗ · Mar 12, 2020
• Informed consent form ↗ · Feb 28, 2018
• Informed consent form ↗ · Feb 28, 2018
• Informed consent form ↗ · Feb 28, 2018
• Informed consent form ↗ · Feb 28, 2018
• Informed consent form ↗ · Feb 28, 2018
• Informed consent form ↗ · Feb 28, 2018

PDFs hosted by the registry, ClinicalTrials.gov.

Individual participant data

Plan to share: 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.

Supporting information: Study protocol, Informed consent form

Time frame: Data will be shared following study completion and publication of primary study results.

Access criteria: Described above. Access will be by study leadership permission and under an inter-institutional data sharing agreement where relevant

Data sharing details ↗ · www.med.unc.edu