Sickle Cell Disease and the Genomic and Gene Therapy Needs of Stakeholders

• ClinicalTrials.gov Identifier: NCT04416178
• Recruitment Status: Active, not recruiting
• First Posted: June 4, 2020
• Last Update Posted: January 27, 2023
• Sponsor: St. Jude Children's Research Hospital
• Collaborator: National Heart, Lung, and Blood Institute (NHLBI)
• Information provided by (Responsible Party): St. Jude Children's Research Hospital

Tracking Information

• First Submitted Date: May 27, 2020
• First Posted Date: June 4, 2020
• Last Update Posted Date: January 27, 2023
• Actual Study Start Date: December 17, 2020
• Estimated Primary Completion Date: September 2023 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: June 1, 2020)

• Use of semi-structured interviews in parents of SCD patients to qualitatively describe parental attitudes of research involving genomic sequencing, including concerns about participation and expectations from researchers [ Time Frame: Day 1, or at a future visit (up to approximately 1 year) ]
  Interviews will be audio recorded, transcribed verbatim and analyzed using semantic content analysis to identify common themes
• Use of surveys to quantitatively measure genetic/genomic knowledge, trust in health care provider/researchers, and literacy/numeracy ability in parents of children with SCD and adolescents with SCD. [ Time Frame: Day 1 ]
  Patients and parents' demographic characteristics will be collected from the electronic medical record (EMR). Participants will complete various survey instruments designed to measure knowledge and attitudes around genetic testing and biobanks, self-reported literacy and numeracy, and trust in providers. Data will be analyzed quantitatively using descriptive statistics, generalized linear regression models and generalized estimation equations.

• Original Primary Outcome Measures: Same as current
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Sickle Cell Disease and the Genomic and Gene Therapy Needs of Stakeholders
• Official Title: Sickle Cell Disease and the Genomic and Gene Therapy Needs of Stakeholders

Brief Summary

The primary objectives of this prospective mixed-method interview study are to use semi-structured interviews in parents of sickle cell disease (SCD) patients to describe parental attitudes of research involving genomic sequencing, including concerns about participation and expectations from researchers and to use surveys to quantitatively measure genetic/genomic knowledge, trust in health care provider, and literacy/numeracy ability in parents of children with SCD and adolescents with SCD.

Investigators hope to use the results of the planned surveys and interviews to reduce the risk of misunderstanding about DNA and genetic research and build strong relationships between SCD families and researchers in the future, and to design educational information and study materials that will help parents with children with SCD understand important details about DNA and genetic research.

Detailed Description

There is a critical gap in knowledge regarding the attitudes, beliefs, and expectations of parents around clinical research trials involving genomic sequencing of children with sickle cell disease (SCD). SCD primarily affects children of African American (Black) race; institutionally we have found differences in enrollment on genomic sequencing trials (G4K (NCT02530658), PG4KDS) with patients identifying as black more likely to decline enrollment. Enrollment on SCCRIP (NCT02098863), a biobank study for children with SCD is high (92.3%), indicating that potential genomic research does not appear to concern many families with SCD. Given the rising prevalence of clinical research involving genomic sequencing in pediatric SCD, coupled with the increasing likelihood that sequencing will be required for enrollment on therapeutic drug or gene therapy trials, there is a clear need for research to better understand stakeholder concerns and expectations around genomic sequencing in this population.

Parents of children with SCD and adolescent patients will be approached to complete a short survey during a routine clinic visit, in the medicine room or in-patient. Survey questions will be administered at the time of the informed consent conversation. Those who agree will be given a paper survey or an ipad to complete survey items which focus on genetic/genomic knowledge, trust in health care provider, and literacy/numeracy ability in parents of children with SCD and adolescents with SCD. Participants also have the option to have questions read to them or they can take the survey on paper. Completion of the survey is expected to take < 30 minutes. Patient and parent can complete surveys simultaneously.

Of parents completing surveys, a subset will be approached for a private (in person or virtual) semi-structured interview. Participants willing to be interviewed will be interviewed at either the same study visit or at a future visit if this is more convenient for the participant. The interview guide (member of the study team) will ask questions designed to first assess parental perceptions about clinical research then begin to focus on parental attitudes, beliefs, and expectations around research involving clinical genomics. Interviews will be conducted on-site at St. Jude Children's Research Hospital in a private, quiet area. The interview should last 30-60 minutes and will be audio recorded.

Some survey or interview study visits may occur remotely.

• Study Type: Observational
• Study Design: Observational Model: Cohort; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided
• Biospecimen: Not Provided
• Sampling Method: Non-Probability Sample
• Study Population: Those who meet the Eligibility criteria
• Condition: Sickle Cell Disease
• Intervention: Not Provided

Study Groups/Cohorts

• Parents of children with SCD
  Parent of child with HbSS, HbS/ β0thalassemia, or HbSC aged 12 months to 18 years at study initiation
• Adolescents with SCD
  Patient aged 13-18 with HbSS, HbS/ β0thalassemia, or HbSC

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Active, not recruiting
• Actual Enrollment (submitted: June 1, 2020): 300
• Original Estimated Enrollment: Same as current
• Estimated Study Completion Date: September 2023
• Estimated Primary Completion Date: September 2023 (Final data collection date for primary outcome measure)

Eligibility Criteria

Inclusion Criteria:

• Parent of child with HbSS, HbS/ β0thalassemia, or HbSC aged 12 months to 18 years at study initiation, irrespective of clinical severity or patient aged 13-18 with aforementioned SCD genotype.
• Informed consent from parent or legal guardian and assent of adolescent participant.
• Has been previously approached for SCRIPP.

Exclusion Criteria:

• Participants who are unable to converse fluently in English will be excluded. (Permanent)
• Condition or chronic illness, which in the opinion of the PI/Co-I, makes participation unsafe or untenable (i.e. cognitive impairment, concurrent acute morbidity). Participant may be re-evaluated.
• Inability or unwillingness of research participant or legal guardian/representative to give written informed consent.

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 13 Years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: United States

Administrative Information

• NCT Number: NCT04416178
• Other Study ID Numbers: SCDGEN; 5U01HL133996 ( U.S. NIH Grant/Contract )
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

• IPD Sharing Statement: Not Provided
• Current Responsible Party: St. Jude Children's Research Hospital
• Original Responsible Party: Same as current
• Current Study Sponsor: St. Jude Children's Research Hospital
• Original Study Sponsor: Same as current
• Collaborators: National Heart, Lung, and Blood Institute (NHLBI)

Investigators

• Principal Investigator: Liza M. Johnson, MD, MPH, MSB; St. Jude Children's Research Hospital

• PRS Account: St. Jude Children's Research Hospital
• Verification Date: January 2023