Stakeholders of Rare Diseases Informing Values In Neuroethics

Stakeholders of Rare Diseases Informing Values In Neuroethics

The purpose of this research study is to learn more about the perspectives of key stakeholders-patients, families, healthcare providers, and researchers-on the ethical challenges of small-scale, personalized treatment trials for rare neurological diseases (RND).

Primary Objectives

• To utilize semi-structured interviews to identify key stakeholder preferences and gather recommendations for the ethical conduct of n-of-few approaches in pediatric patients with rare neurological diseases (RND).
• Identify key challenges and best practices for informed consent and communication strategies for personalized interventions in pediatric RND trials.
• To develop a best practice framework for the ethical conduct of research involving personalized interventions for children with catastrophic RND.

Secondary Objectives

• To use surveys to quantitatively measure trust in health care providers and medical researchers, quality of life, and resilience in families of a patient or patients with an RND.
• To elicit feedback from patients and families on their perceived utility of existing patient reported outcome (PROs) measures relevant to capturing their illness experience and needs.

This study will employ a mixed-methods approach to comprehensively understand the perspectives of families and non-family stakeholders regarding personalized research programs in super-rare, catastrophic neurologic disorders. The study will utilize validated surveys, semi-structured interviews, and focus groups.

Group 1: Primary Caregivers/Patients (Longitudinal Approach)

• Participants will complete validated quality-of-life inventories at baseline and once-to-twice per year over the study period.

• Semi-structured interviews will be conducted at the time of enrollment, then approximately every 6 months through the end of the study period, focusing on:

  • Views on a priori-defined research ethics topics.
  • Understanding the family's illness experience and any significant changes since the previous interview.
  • Reflective recaps of previous interviews to identify shifts in attitudes.

Group 2: Other Family Stakeholders (Cross-Sectional Approach)

• This group will participate in single interviews or focus groups, as determined by participant choice. Participants will be referred to study team by Group 1 participants and will be interviewed after their relative in Group 1 has completed at least one interview. They will provide insights into how families apply the concepts of the Belmont Report (e.g., autonomy and justice) to their experiences and define "benefit" and "risk" in the context of personalized treatments.
• This portion of the study will focus on patient-reported outcomes (PROs) that are meaningful to families.

Group 3: Non-Family Stakeholders

• Semi-structured interviews, focus groups, and listening sessions will be conducted to explore ethical best practices and potential pitfalls in delivering n-of-few therapies.

Inclusion Criteria:

Group 1 (Parental Caregiver and Patient Participants)

• Parental/primary caregiver with a child who has a genetic diagnosis of an ultrarare disorder with pediatric onset, or a clinical diagnosis with a suspected genetic etiology.
• Child is under 21 years of age at the time of enrollment.
• Child has an expected survival of at least one year following study enrollment.
• Patients (age ≤ 25 years) with a genetic diagnosis of an ultrarare disorder with pediatric onset, or clinical diagnosis with suspected genetic etiology.
• Willingness to provide verbal informed consent (or assent, as appropriate) to participate

Group 2 (Other Family)

• Family member of a Group 1 participant who plays an active role in the child's life or care.
• Includes siblings (≥ 13 years of age), grandparents, or other non-primary caregivers directly affected by the child's diagnosis.
• Demonstrated familiarity with the child's medical and family experience.
• Willingness to provide verbal informed consent (or assent, as appropriate) to participate.

Group 3 (Non-Family Stakeholders)

• Individuals currently engaged, or recently active, in clinical care, research, advocacy or policy work related to pediatric-onset rare genetic disorders.
• May include clinicians (e.g., neurologists, genetic counselors, nurses, child-life specialists, home-health staff), members of patient-advocacy organizations, institutional-review-board (IRB) members, payers, sponsors, funders, or representatives of hospital systems or regulatory agencies.
• Willingness to provide verbal informed consent to participate in semi-structured interviews or focus groups

Exclusion Criteria:

• Limited English proficiency
• Unable to complete the survey materials or complete the interviews in English.
• Inability or unwillingness of research participant to give verbal informed consent (in English)
• 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).