Sickle Cell DiseaseNCT04416178
Sickle Cell Disease and the Genomic and Gene Therapy Needs of Stakeholders
An observational study of Sickle Cell Disease, run by St. Jude Children's Research Hospital at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 13 years and olderHealthy volunteers can take part
- Conditions the study is for
- Sickle Cell Disease
- How many people
- 352 participants
- Where
- 1 siteUnited States
- Study dates
- 17 Dec 2020to Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 13 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Those who meet the Eligibility criteria
Who may be able to join
- 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.
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- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
St. Jude Children's Research Hospital
Memphis, Tennessee, 38105
Liza M. Johnson, MD, MPH, MSB, 888-226-4343, referralinfo@stjude.org
Liza M. Johnson, MD, MPH, MSB
About this study
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.
Read the 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.
- Conditions
- Sickle Cell Disease
- Keywords
- Sickle Cell Disease, Sickle Cell Anemia, Hemoglobin SC Disease, Hemoglobin SS Disease, Hemoglobin S beta zero thalassemia, Adolescent, Parent
- Medical subject headings
- Anemia, Sickle Cell, Hemoglobin SC Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Survey and Interview Group (Group1) | 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 13-18 with aforementioned SCD genotype. | |
| Focus Group (Group 2) | 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 whose parent provides verbal informed consent for focus group participation. | |
| Usability and Pilot Testing (Group 3) | 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Interviews will be audio recorded, transcribed verbatim and analyzed using semantic content analysis to identify common themes
Measured: Day 1, or at a future visit (up to approximately 1 year)
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.
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.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Jun 2020
- Study start17 Dec 2020
- Primary completion26 Mar 2024
- Study completionDec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sickle Cell DiseaseStudies of the same condition, open and under way.
- More trials run by St. Jude Children's Research HospitalThe 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 352 participants (estimated)
Sponsor and investigators
- Lead sponsor
- St. Jude Children's Research Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Sponsor
- Investigators
- Liza M. Johnson, MD, MPH, MSB, Principal investigator, St. Jude Children's Research Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04416178
- Sponsor's protocol ID
- SCDGEN
- Other IDs
- 5U01HL133996
- Status last verified
- Apr 2026
- First submitted
- 27 May 2020
- Last updated
- 1 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Sickle Cell Disease and the Genomic and Gene Therapy Needs of Stakeholders
- ClinicalTrials.gov ID
- NCT04416178
- Acronym / sponsor ID
- SCDGEN
- Conditions
- Sickle Cell Disease
- Keywords
- Sickle Cell Disease, Sickle Cell Anemia, Hemoglobin SC Disease, Hemoglobin SS Disease, Hemoglobin S beta zero thalassemia, Adolescent, Parent
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 352 participants (estimated)
- Lead sponsor
- St. Jude Children's Research HospitalUniversity, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- 17 Dec 2020 (actual)
- Primary completion
- 26 Mar 2024 (actual)
- Study completion
- Dec 2026 (estimated)
- First posted
- 4 Jun 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Survey and Interview Group (Group1) | – | –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 13-18 with aforementioned SCD genotype. |
| Focus Group (Group 2) | – | –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 whose parent provides verbal informed consent for focus group participation. |
| Usability and Pilot Testing (Group 3) | – | –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. |
Who may qualify
- Ages
- 13 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Those who meet the Eligibility criteria
Key inclusion criteria (10 listed)
- 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.
- 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.
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 May 2026.
- St. Jude Children's Research HospitalLink provided by the sponsor.
- Clinical Trials Open at St. JudeLink provided by the sponsor.
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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.
Liza M. Johnson, MD, MPH, MSB principal investigator
St. Jude Children's Research Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sickle Cell Disease, run by St. Jude Children's Research Hospital at 1 site 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 10 inclusion and 3 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: looking for participants now, as of the sponsor's last update on 1 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Liza M. Johnson, MD, MPH, MSB (888-226-4343, referralinfo@stjude.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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)). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 1 May 2026; AzTrials last refreshed its copy on 6 Nov 2026.