Familial Hypercholesterolemia Clinical Trial
Official title:
Reporting Adult-Onset Genomic Results to Pediatric Biobank Participants and Parents
Verified date | July 2023 |
Source | Geisinger Clinic |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Interventional |
The Investigators will conduct a longitudinal, mixed-methods cohort study to assess primary and secondary psychosocial outcomes among 705 MyCode pediatric participants and their parents, and health behaviors of parents whose children receive an adult- or pediatric-onset genomic result. Data will be gathered via quantitative surveys using validated measures of distress, family functioning, quality of life, body image, perceived cancer/heart disease risk, genetic counseling satisfaction, genomics knowledge, and adjustment to genetic information; qualitative interviews with adolescents and parents; and electronic health records review of parents' cascade testing uptake and initiation of risk reduction behaviors. The investigators will also conduct empirical and theoretical legal research to examine the loss of chance doctrine and its applicability to genomic research.
Status | Active, not recruiting |
Enrollment | 427 |
Est. completion date | June 30, 2024 |
Est. primary completion date | June 30, 2024 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | N/A and older |
Eligibility | Inclusion Criteria: - Any pediatric MyCode participant (ages 0-17) OR - Parent of a pediatric MyCode participant who has given assent to participate in this study. Exclusion Criteria: - Individuals who have already had genetic counseling for any of the actionable target conditions as part of their routine clinical care. - Individuals who have already had genetic counseling for any of the actionable target conditions through their participation in another research study. |
Country | Name | City | State |
---|---|---|---|
United States | Geisinger | Danville | Pennsylvania |
Lead Sponsor | Collaborator |
---|---|
Geisinger Clinic | National Human Genome Research Institute (NHGRI) |
United States,
Bjelland I, Dahl AA, Haug TT, Neckelmann D. The validity of the Hospital Anxiety and Depression Scale. An updated literature review. J Psychosom Res. 2002 Feb;52(2):69-77. doi: 10.1016/s0022-3999(01)00296-3. — View Citation
Bond FW, Hayes SC, Baer RA, Carpenter KM, Guenole N, Orcutt HK, Waltz T, Zettle RD. Preliminary psychometric properties of the Acceptance and Action Questionnaire-II: a revised measure of psychological inflexibility and experiential avoidance. Behav Ther. 2011 Dec;42(4):676-88. doi: 10.1016/j.beth.2011.03.007. Epub 2011 May 25. — View Citation
Boterhoven de Haan KL, Hafekost J, Lawrence D, Sawyer MG, Zubrick SR. Reliability and validity of a short version of the general functioning subscale of the McMaster Family Assessment Device. Fam Process. 2015 Mar;54(1):116-23. doi: 10.1111/famp.12113. Epub 2014 Nov 11. — View Citation
Bradbury AR, Patrick-Miller L, Schwartz LA, Egleston BL, Henry-Moss D, Domchek SM, Daly MB, Tuchman L, Moore C, Rauch PK, Shorter R, Karpink K, Sands CB. Psychosocial Adjustment and Perceived Risk Among Adolescent Girls From Families With BRCA1/2 or Breast Cancer History. J Clin Oncol. 2016 Oct 1;34(28):3409-16. doi: 10.1200/JCO.2015.66.3450. Epub 2016 Aug 22. — View Citation
Brehaut JC, O'Connor AM, Wood TJ, Hack TF, Siminoff L, Gordon E, Feldman-Stewart D. Validation of a decision regret scale. Med Decis Making. 2003 Jul-Aug;23(4):281-92. doi: 10.1177/0272989X03256005. — View Citation
Buchanan AH, Voils CI, Schildkraut JM, Fine C, Horick NK, Marcom PK, Wiggins K, Skinner CS. Adherence to Recommended Risk Management among Unaffected Women with a BRCA Mutation. J Genet Couns. 2017 Feb;26(1):79-92. doi: 10.1007/s10897-016-9981-6. Epub 2016 Jun 6. — View Citation
CDC. Office of Public Health Genomics - Genomic Tests and Family History by Levels of Evidence.2014; http://www.cdc.gov/genomics/gtesting/tier.htm.
Chew LD, Bradley KA, Boyko EJ. Brief questions to identify patients with inadequate health literacy. Fam Med. 2004 Sep;36(8):588-94. — View Citation
DeMarco TA, Peshkin BN, Mars BD, Tercyak KP. Patient satisfaction with cancer genetic counseling: a psychometric analysis of the Genetic Counseling Satisfaction Scale. J Genet Couns. 2004 Aug;13(4):293-304. doi: 10.1023/b:jogc.0000035523.96133.bc. — View Citation
DuBenske LL, Burke Beckjord E, Hawkins RP, Gustafson DH. Psychometric evaluation of the Health Information Orientation Scale: a brief measure for assessing health information engagement and apprehension. J Health Psychol. 2009 Sep;14(6):721-30. doi: 10.1177/1359105309338892. — View Citation
Giannopoulou I, Smith P, Ecker C, Strouthos M, Dikaiakou A, Yule W. Factor structure Children's Revised Impact of Events (CRIES) Scale with children exposed to earthquake Pers Individ Diff. 2006;40(5):1027-1037
Gray SW, Martins Y, Feuerman LZ, Bernhardt BA, Biesecker BB, Christensen KD, Joffe S, Rini C, Veenstra D, McGuire AL; CSER Consortium Outcomes and Measures Working Group. Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group. Genet Med. 2014 Oct;16(10):727-35. doi: 10.1038/gim.2014.26. Epub 2014 Mar 13. — View Citation
Greco LA, Lambert W, Baer RA. Psychological inflexibility in childhood and adolescence: development and evaluation of the Avoidance and Fusion Questionnaire for Youth. Psychol Assess. 2008 Jun;20(2):93-102. doi: 10.1037/1040-3590.20.2.93. — View Citation
Green ED, Guyer MS; National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside. Nature. 2011 Feb 10;470(7333):204-13. doi: 10.1038/nature09764. — View Citation
Kaphingst KA, Facio FM, Cheng MR, Brooks S, Eidem H, Linn A, Biesecker BB, Biesecker LG. Effects of informed consent for individual genome sequencing on relevant knowledge. Clin Genet. 2012 Nov;82(5):408-15. doi: 10.1111/j.1399-0004.2012.01909.x. Epub 2012 Aug 7. — View Citation
Lupo PJ, Robinson JO, Diamond PM, Jamal L, Danysh HE, Blumenthal-Barby J, Lehmann LS, Vassy JL, Christensen KD, Green RC, McGuire AL; MedSeq Project team. Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project. Per Med. 2016 Jan 1;13(1):13-20. doi: 10.2217/pme.15.45. Epub 2016 Jan 8. — View Citation
McDermott E, Moloney J, Rafter N, Keegan D, Byrne K, Doherty GA, Cullen G, Malone K, Mulcahy HE. The body image scale: a simple and valid tool for assessing body image dissatisfaction in inflammatory bowel disease. Inflamm Bowel Dis. 2014 Feb;20(2):286-90. doi: 10.1097/01.MIB.0000438246.68476.c4. — View Citation
Moos R, Moos B. Family Environment Scale Manual: Development, Applications, Research. 3rd ed. Palo Alto, CA: Consulting Psychologist Press; 1994
Osborne RH, Elsworth GR, Whitfield K. The Health Education Impact Questionnaire (heiQ): an outcomes and evaluation measure for patient education and self-management interventions for people with chronic conditions. Patient Educ Couns. 2007 May;66(2):192-201. doi: 10.1016/j.pec.2006.12.002. Epub 2007 Feb 22. — View Citation
Patenaude AF, Dorval M, DiGianni LS, Schneider KA, Chittenden A, Garber JE. Sharing BRCA1/2 test results with first-degree relatives: factors predicting who women tell. J Clin Oncol. 2006 Feb 1;24(4):700-6. doi: 10.1200/JCO.2005.01.7541. — View Citation
Read CY, Perry DJ, Duffy ME. Design and psychometric evaluation of the Psychological Adaptation to Genetic Information Scale. J Nurs Scholarsh. 2005;37(3):203-8. doi: 10.1111/j.1547-5069.2005.00036.x. — View Citation
Rosenberg M. Society and the adolescent self-image. Princeton, NJ: Princeton University Press; 1965
Schwartz MD, Kaufman E, Peshkin BN, Isaacs C, Hughes C, DeMarco T, Finch C, Lerman C. Bilateral prophylactic oophorectomy and ovarian cancer screening following BRCA1/BRCA2 mutation testing. J Clin Oncol. 2003 Nov 1;21(21):4034-41. doi: 10.1200/JCO.2003.01.088. — View Citation
Zigmond AS, Snaith RP. The hospital anxiety and depression scale. Acta Psychiatr Scand. 1983 Jun;67(6):361-70. doi: 10.1111/j.1600-0447.1983.tb09716.x. — View Citation
* Note: There are 24 references in all — Click here to view all references
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | The Hospital Anxiety and Depression Scale (HADS) | The HADS questionnaire is a 14-item scale comprised of seven questions for anxiety and seven questions for depression. Each item is scored from 0-3. The total scoring is as follows: 8-10 = Mild, 11-14 = Moderate, 15-21 = Severe. Scoring for anxiety and depression are to be completed separately. For both scales, a total score of less than 7 indicates non-cases. | Baseline, 1, 6, & 12 months post-disclosure | |
Primary | The General Functioning 12-item subscale (GF12) of The McMaster Family Assessment Device (FAD) | The GF12 subscale is made up of 12 items, six items that reflect healthy family functioning and the other six items reflecting unhealthy functioning. Scoring is on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items reversed.
The total score is then divided by the number of items on the subscale giving a total score ranging from 1.0 (best functioning) to 4.0 (worse functioning) |
Baseline, 1, 6, & 12 months post-disclosure | |
Primary | Health-Related Quality of Life (HRQOL) | Healthy days are the positive complementary form of unhealthy days. Healthy days estimates the number of recent days when a person's physical and mental health was good (or better) and is calculated by subtracting the number of unhealthy days from 30 days.
Unhealthy days are an estimate of the overall number of days during the previous 30 days when the respondent felt that either his or her physical or mental health was not good. To obtain this estimate, responses to questions 2 and 3 are combined to calculate a summary index of overall unhealthy days, with a logical maximum of 30 unhealthy days. For example, a person who reports 4 physically unhealthy days and 2 mentally unhealthy days is assigned a value of 6 unhealthy days, and someone who reports 30 physically unhealthy days and 30 mentally unhealthy days is assigned the maximum of 30 unhealthy days. |
Baseline, 1, 6, & 12 months post-disclosure | |
Primary | Uptake of cascade testing | Uptake of cascade testing (yes/no) among parents. | 12 months post-disclosure to pediatric proband | |
Primary | Initiation of risk reduction behavior | Initiation of risk reduction behavior (yes/no) among parents with familial gene variant. | 12 months post-disclosure to pediatric proband | |
Secondary | Body Image instrument | Change in adolescents' body image measured using the Body image instrument. | Baseline, 1, 6, & 12 months post-disclosure | |
Secondary | Self-Esteem Scale | The Self-Esteem Scale is made up on 10 items to measure self-esteem. Scoring involves a method of combined ratings. Low self-esteem responses are "disagree" or "strongly disagree" on items 1, 3, 4, 7, 10, and "strongly agree" or "agree" on items 2, 5, 6, 8, 9. Two or three out of three correct responses to items 3, 7, and 9 are scored as one item. One or two out of two correct responses for items 4 and 5 are considered as a single item; items 1,8, and 10 are scored as individual items; and combined correct responses (one or two out of two) to items 2 and 6 are considered to be a single item.
The scale can also be scored by totaling the individual 4-point items after reverse-scoring the negatively worded items. |
Baseline, 1, 6, & 12 months post-disclosure | |
Secondary | Decision Regret scale | The Decision Regret Scale is made up of 5 items that address the notion of regret in a variety of ways. Scoring on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items.
The total score is taken from the mean of the 5 items. |
1 & 12 months post-disclosure | |
Secondary | Genetic Counseling Satisfaction Scale (GCSS) | The GCSS is a 6-item Likert scale that assesses participant satisfaction with the process and content of genetic counseling. Scoring on a 4-point scale (from 1 for strongly agree to 4 for strongly disagree) with the scale for the negatively worded items.
The total score is taken from the mean of the 6 items. |
1 month post-disclosure | |
Secondary | Children's Revised Impact of Events scale | The CRIES is a 13-item scale developed as a screening instrument for children at risk of developing PTSD after experiencing a traumatic event. It includes four items measuring intrusion, four items measuring avoidance and five items measuring arousal. Each item is rated on a four-point scale (Not at all, Rarely, Sometimes, Often), scored 0, 1, 3, 5 with no reversed items. The total score indicates the severity of a child's posttraumatic stress reactions with a range from 0 to 65.
A score of 30 and above has been confirmed as the most effective cut-off score for screening cases of PTSD |
1, 6, &12 months post-disclosure | |
Secondary | Psychological Adaptation to Genetic Information scale (PAGIS) | This scale consists of both positively and negatively worded statements that are rated on a 1-6 Likert scale (from 1 for strongly disagree to 6 for strongly agree). The respondent's overall health and health of the affected child (where applicable) is assessed using 5-point likert type items. | 1, 6, & 12 months post-disclosure | |
Secondary | Health Education Impact Questionnaire (heiQ) | The Self-Monitoring and Insight scale captures an individuals' ability to monitor their condition, and their physical and or emotional responses that leads to insight and appropriate action/s to self-manage. It is made up of 7 items, scored by summing item responses and dividing by the number of scale items Scoring is done on a 4-point scale (from 1 for strongly disagree to 4 for strongly agree).
The Health Services Navigation scale aims to capture the positive impact of social engagement and support that evolves through interaction with others and the impact may arise from interaction with others sharing similar health-related life experiences. It is made up of 5 items, scored by summing item responses and dividing by the number of scale items Scoring is done on a 4-point scale (from 1 for strongly disagree to 4 for strongly agree). |
1, 6, & 12 months post-disclosure |
Status | Clinical Trial | Phase | |
---|---|---|---|
Enrolling by invitation |
NCT05284513 -
Collaborative Approach to Reach Everyone With Familial Hypercholesterolemia (CARE-FH)
|
N/A | |
Enrolling by invitation |
NCT05271305 -
Pilot Study for a National Screening for Familial Hypercholesterolemia
|
||
Completed |
NCT02750527 -
Pediatric Population Screening for Type 1 Diabetes and Familial Hypercholesterolemia in Lower Saxony, Germany
|
||
Not yet recruiting |
NCT00924339 -
Soy Food Intervention Trial
|
N/A | |
Withdrawn |
NCT00751608 -
Effect of APL180 on Endothelial Function in Familial Hypercholesterolemia Patients
|
Phase 2 | |
Terminated |
NCT00079846 -
Implitapide in Patients With Homozygous Familial Hypercholesterolemia (HoFH) on Maximal Concurrent Lipid-Lowering Therapy
|
Phase 2 | |
Completed |
NCT02624869 -
Safety, Tolerability and Efficacy of Evolocumab (AMG 145) in Children With Inherited Elevated Low-density Lipoprotein Cholesterol (Familial Hypercholesterolemia)
|
Phase 3 | |
Recruiting |
NCT05758779 -
The Danish Familial Hypercholesterolemia Organized Coronary Screening Trial
|
N/A | |
Enrolling by invitation |
NCT04929457 -
Evaluation of a Digiphysical Screening Method to Identify and Diagnose Familial Hypercholesterolemia
|
||
Not yet recruiting |
NCT04455581 -
A Study to Determine the Safety, Tolerability, and Efficacy of SHR-1209 in Patients With Familial Hypercholesterolemia
|
Phase 2 | |
Recruiting |
NCT04101149 -
Genetic Causes of Familial Hypercholesterolemia
|
||
Completed |
NCT00943306 -
Long Term, Follow-on Study of Lomitapide in Patients With Homozygous Familial Hypercholesterolemia
|
Phase 3 | |
Completed |
NCT02462655 -
Effects of LDL Apheresis System on the Expression of Genes Involved in Lipoprotein Metabolism and Inflammation in Homozygotes for Familial Hypercholesterolemia
|
N/A | |
Terminated |
NCT00079859 -
Implitapide in Patients With Heterozygous Familial Hypercholesterolemia (HeFH) on Maximal Concurrent Lipid-Lowering Therapy
|
Phase 2 | |
Recruiting |
NCT05066932 -
Advanced Lipoproptein Profiling and Cardiovascular Risk Stratification in Familial Hypercholesterolemia
|
||
Not yet recruiting |
NCT04958629 -
A Prospective Cohort Study on Familial Hypercholesterolemia in Health Examination Population
|
||
Completed |
NCT02709850 -
Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of IONIS ANGPTL3-LRx in Healthy Volunteers With Elevated Triglycerides and Participants With Familial Hypercholesterolemia
|
Phase 1 | |
Terminated |
NCT02013713 -
French Observatory of Familial Hypercholesterolemia in Cardiology
|
||
Recruiting |
NCT02009345 -
Familial Hypercholesterolemia Canada / Hypercholesterolemie Familiale Canada
|
||
Terminated |
NCT03331666 -
Impact of LDL-cholesterol Lowering on Platelet Activation
|
Phase 4 |