Genomic and gene therapy needs for families and patients with sickle cell disease

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

This project uses interviews and surveys to see if better information and a web-based tool can help parents and teens with sickle cell disease understand genomic sequencing and treatment options.

Quick facts

• Study type: Observational
• Enrollment: 352 (estimated)
• Ages: 13 Years and up
• Sex: All
• Sponsor: St. Jude Children's Research Hospital (other)
• Locations: 1 site (Memphis, Tennessee)
• Trial ID: NCT04416178 on ClinicalTrials.gov

What this trial studies

This prospective mixed-method project uses semi-structured interviews with parents and surveys of parents and adolescents to capture attitudes, concerns, and expectations about genomic sequencing and gene therapy in sickle cell disease. Surveys measure genetic/genomic knowledge, trust in health care providers, and literacy/numeracy, while interviews explore deeper beliefs and decision-making factors. The team will develop a web-based decision-support tool to foster patient-clinician communication and shared decision-making and will conduct usability and pilot testing with families. Participants are recruited at routine clinic or inpatient visits at St. Jude and include parents and adolescents with specified SCD genotypes, many of whom were previously approached for SCCRIP.

Who should consider this trial

Good fit: Ideal participants are parents of children (12 months–18 years) with HbSS, HbS/β0 thalassemia, or HbSC and adolescents (13–18 years) with these genotypes, especially those previously approached for SCCRIP.

Not a fit: Adults outside the specified pediatric/adolescent age ranges, people without the listed SCD genotypes, or those not receiving care at the study site are unlikely to receive direct benefit from participation.

Why it matters

Potential benefit: If successful, the work could help families better understand genomic testing and gene therapy options and improve shared decision-making with clinicians.

How similar studies have performed: Previous genomic and biobank efforts in SCD (e.g., G4K, PG4KDS, SCCRIP) show mixed results—high biobank enrollment in some settings but higher decline rates for sequencing among Black families—indicating related work exists but targeted engagement approaches are still needed.

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.

Where this trial is running

Memphis, Tennessee

• St. Jude Children's Research Hospital — Memphis, Tennessee, United States (RECRUITING)

Study contacts

• Principal investigator: Liza M. Johnson, MD, MPH, MSB — St. Jude Children's Research Hospital
• Study coordinator: Liza M. Johnson, MD, MPH, MSB

Conditions: Sickle Cell Disease, Sickle Cell Anemia, Hemoglobin SC Disease, Hemoglobin SS Disease, Hemoglobin S beta zero thalassemia, Adolescent, Parent