This prospective mixed-method interview study aims to qualitatively describe the beliefs, attitudes, and informational needs around gene therapy for rare pediatric diseases among patients and parents of children with a rare disease targeted for treatment using gene therapy techniques. Using learned insights, the team will develop an online platform providing educational content and patient decision aids for patients and their families.

The study team seeks to understand the unique needs of patients and parents of children who are considering novel experimental gene therapy treatments. The study team will engage patients, caregivers, and healthcare worker stakeholders to understand their attitudes, beliefs, and concerns surrounding these treatments. Based on these insights, the team, with the support of the above stakeholders and an external vendor, will develop web platform offering educational content and decision aids to enhance their experience and overall satisfaction with the process of making treatment decisions. This is especially important as novel therapies for SCD will increasingly include gene editing in pediatric trials over the next two years. These efforts will address significant gaps in the educational material available to those considering gene therapy and (to the team's knowledge) will create a resource that will be the first of its kind.

Inclusion Criteria:

1. For Group 1 participants only (Undergone Gene Therapy):

   • Parent/caregiver whose child has undergone gene therapy. OR Parent/caregiver of a child who died after receiving gene therapy at least 6 months prior to enrollment, but no more than 24 months prior to enrollment, to be contacted no sooner than 3 months after the death has occurred and no longer than 2 years. OR Patients age 8 and above who have undergone gene therapy.
   • Willingness to participate in one-on-one video interview with a study team member using a personal mobile device or computer with working internet connection.
   • Must be willing to provide verbal informed consent.
   • Release of information form signed by participant providing our study team with permission to contact healthcare provider to verify their diagnosis and receipt of gene therapy (if received).
   • Successful verification of diagnosis of rare genetic disease targeted for treatment using gene therapy.
   • A positive confirmation on receipt of gene therapy and type received from their healthcare provider (only for those received gene therapy).

2. For Group 2 participants only (Offered, but did not Undergo Gene Therapy):

   • Parent/caregiver of children (or patients 8 and above ) with a rare genetic disease who had been offered but were not eligible for a trial or decided against receiving gene therapy.
   • Willingness to participate in one-on-one video interview with a study team member using a personal mobile device or computer with working internet connection.
   • Must be willing to provide verbal informed consent.
   • Signed release of information form providing GeneTx study team with permission to contact participant's healthcare provider to verify the diagnosis.
   • Successful verification of diagnosis of rare genetic disease targeted for treatment using gene therapy.

3. For Group 3 participants only (Provider Interviews):

   • Healthcare worker who has provided care to ≥ 2 patients receiving gene therapy.
   • Willingness to participate in one-on-one video (or in-person) interview with a study team member using a personal mobile device or computer with working internet connection.
   • Informed consent from a study participant.

4. For Group 4 participants only (Undergone Gene Therapy for Bone Marrow Failure Condition):

   • Parent/caregiver whose child has undergone gene therapy. OR Parent/caregiver of a child who died after receiving gene therapy at least 6 months prior to enrollment, but no more than 24 months prior to enrollment, to be contacted no sooner than 3 months after the death has occurred and no longer than 2 years. OR Patients age 8 and above who have undergone gene therapy.
   • Willingness to participate in one-on-one video interview with a study team member using a personal mobile device or computer with working internet connection.
   • Must be willing to provide verbal informed consent.
   • Release of information form signed by participant providing our study team with permission to contact healthcare provider to verify their diagnosis and receipt of gene therapy (if received).
   • Successful verification of diagnosis of rare genetic disease targeted for treatment using gene therapy.
   • A positive confirmation on receipt of gene therapy and type received from their healthcare provider (only for those received gene therapy).

5. For Group 5 participants only (Offered, but did not Undergo Gene Therapy for Bone Marrow Failure Condition ):

   • Parent/caregiver of children (or patients 8 and above ) with a bone marrow failure disease who had been offered but were not eligible for a trial or decided against receiving gene therapy.
   • Willingness to participate in one-on-one video interview with a study team member using a personal mobile device or computer with working internet connection.
   • Must be willing to provide verbal informed consent.
   • Signed release of information form providing GeneTx study team with permission to contact participant's healthcare provider to verify the diagnosis.
   • Successful verification of diagnosis of rare genetic disease targeted for treatment using gene therapy.

6. For Group 6 participants only (Never offered gene therapy for Bone Marrow Failure Condition):

   • Parent/caregiver of children (or patients 8 and above ) with a bone marrow failure disease who had not been offered gene therapy.
   • Willingness to participate in one-on-one video interview with a study team member using a personal mobile device or computer with working internet connection.
   • Must be willing to provide verbal informed consent.
   • Signed release of information form providing GeneTx study team with permission to contact participant's healthcare provider to verify the diagnosis.
   • Successful verification of diagnosis of rare genetic disease targeted for treatment using gene therapy.

7. For Group 7 participants only (Provider Interviews for Bone Marrow Failure Condition):

   • Healthcare worker who has provided care to ≥ 2 patients receiving gene therapy.
   • Willingness to participate in one-on-one video (or in-person) interview with a study team member using a personal mobile device or computer with working internet connection.
   • Informed consent from a study participant.

Exclusion Criteria (for all 7 groups):

• Participants who are unable to converse fluently in English will be excluded.
• Inability or unwillingness of research participant to give verbal informed consent.
• Participants who lack access to a computer or mobile device that supports video communications will be excluded.
• 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).

About 105 patients (age 8 and above) or parents of children verified to have a rare disease targeted for treatment using gene therapy techniques and 10-20 healthcare workers who provide care to patients receiving gene therapy (including an additional 10-20 healthcare workers treating patients with a bone marrow failure condition) .