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

NCT04416178 | Recruiting

• 2 other identifiers: SCDGEN5U01HL133996
• Study Type: observational
• Target: 352
• Locations: 1 country
• Sites: 1

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

Keywords

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

Outcome Measures

Primary Outcomes (2)

• 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

  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.

  Day 1

Study Arms (3)

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.

Eligibility Criteria

• Age: 13 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Those who meet the Eligibility criteria

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Heart, Lung, and Blood Institute (NHLBI): collaborator
• St. Jude Children's Research Hospital: lead

Study Sites (1)

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

RECRUITING

Related Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude

MeSH Terms

Conditions

Anemia, Sickle Cell; Hemoglobin SC Disease

Condition Hierarchy (Ancestors)

Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Liza M. Johnson, MD, MPH, MSB

  St. Jude Children's Research Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Liza M. Johnson, MD, MPH, MSB

CONTACT

888-226-4343; referralinfo@stjude.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 27, 2020
• First Posted: June 4, 2020
• Study Start: December 17, 2020
• Primary Completion: March 26, 2024
• Study Completion (Estimated): December 1, 2026
• Last Updated: May 1, 2026

Record last verified: 2026-04

Locations

US (1)