Recruiting

Genomic Medicine

Sponsor:

St. Jude Children's Research Hospital

Code:

NCT04416178

Conditions

Sickle Cell Disease

Eligibility Criteria

Sex: All

Age: 13+

Healthy Volunteers: Accepted

Study Details

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.

Conditions

Sickle Cell Disease

Study ID

NCT04416178

Start date

Dec 17, 2020

Status verified date

Apr, 2026

Completion date

Dec, 2026

Anticipated

Primary completion date

Mar 26, 2024

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 13+

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

352 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

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) ]
  • 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 ]

Central Contacts and Locations

Central contacts

Liza M. Johnson, MD, MPH, MSB

888-226-4343referralinfo@stjude.org

Locations

St. Jude Children's Research Hospital

Recruiting

Memphis, Tennessee, United States, 38105

Contacts

Liza M. Johnson, MD, MPH, MSB

888-226-4343referralinfo@stjude.org

Principal Investigator:

Liza M. Johnson, MD, MPH, MSB

More Information

Sponsor

St. Jude Children's Research Hospital

Last update posted

May 1, 2026

Last verified

Apr, 2026

Keywords

  • Sickle Cell Disease
  • Sickle Cell Anemia
  • Hemoglobin SC Disease
  • Hemoglobin SS Disease
  • Hemoglobin S beta zero thalassemia
  • Adolescent
  • Parent

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by St. Jude Children's Research Hospital on 2026-05-01.