Official Title
Sickle Cell Disease and the Genomic and Gene Therapy Needs of Stakeholders
Brief Title
Sickle Cell Disease and the Genomic and Gene Therapy Needs of Stakeholders
Protocol ID
NCT04416178
Lead Sponsor
St. Jude Children's Research Hospital
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 second, 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.
Secondary objectives are development of a web-based tool about treatment options for SCD
that fosters patient-clinician communication and promotes shared decision-making. The
web-based tool will undergo usability and pilot testing to ensure it is accessible to
families and provide data about strategies for integrating into clinical conversations
about treatment options.
Investigators will use the data generated to reduce the risk of misunderstanding about
DNA and genetic research and build strong relationships between SCD families and
researchers in the future. The project will design educational information and study
materials to help parents of children with SCD understand important details about genomic
medicine in SCD care.
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.
Investigators will re-approach 5-15 parents and 5-15 patients (both adolescent and young
adult) to review educational materials developed about sickle cell disease treatment
options. Additionally, investigators will approach parents of children with SCD as well
as young adult patients for pilot testing of the web-based educational tool.
Study Period
Enrollment Count
352 participants
Eligibility Criteria
Inclusion Criteria
Group 1 (Survey and Interview) Participants only:
- 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.
Group 2 (Focus Group) Participants only:
- Adult Patient with or Parent of child with HbSS, HbS/ β0thalassemia, β+ thalassemia
or HbSC aged 12 months to 18 years at study initiation, irrespective of clinical
severity or patient aged 16-18 with aforementioned SCD genotype.
- Informed consent from parent or legal guardian and assent of adolescent participant.
Group 3 (Usability and Pilot Testing) Participants only:
- Parent of child with HbSS, HbS/ β0thalassemia, β+ thalassemia or HbSC aged 12 months
to 18 years at study initiation, irrespective of clinical severity or patient aged
13 and up with aforementioned SCD genotype.
- Informed consent from parent or legal guardian and assent of adolescent participant.
Exclusion Criteria (All groups):
- 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.
Filters
Sickle Cell Disease
RECRUITING
CHILD
ADULT
OLDER_ADULT