Stakeholders of Rare Diseases Informing Values In Neuroethics

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.

• 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. [Срок оценки: At baseline and every 6 months until end of study, approximately 5 years]
• Human Connection Scale [Срок оценки: Baseline, then approximately annually during the study period, approximately 5 years]
• Trust in Medical Researchers Scale [Срок оценки: Baseline, then approximately annually during the study period, approximately 5 years.]
• Caregiver Resilience (Connor-Davidson Resilience Scale) [Срок оценки: Baseline, then approximately every 6 months during the study period, approximately 5 years]
• Baseline, then approximately every 6 months during the study period [Срок оценки: Baseline, then approximately every 6 months during the study period, approximately 5 years.]
• Infant Health-Related Quality of Life (PedsQL Infant Module) [Срок оценки: Baseline, then approximately every 6 months during the study period, approximately 5 years]
• Child and Adolescent Health-Related Quality of Life (PedsQL v4.0 Generic Core Scales) [Срок оценки: Baseline, then approximately every 6 months during the study period, approximately 5 years]
• Neuromuscular Disease-Specific Quality of Life (PedsQL 3.0 Neuromuscular Module) [Срок оценки: Baseline, then approximately every 6 months during the study period, approximately 5 years]