Families and clinicians shaping ethical standards for personalized care in rare neurological diseases

Stakeholders of Rare Diseases Informing Values In Neuroethics

This project will talk with patients, families, clinicians, and researchers to see which ethical issues matter most when using personalized treatments for children with ultrarare neurological disorders.

Quick facts

• Study type: Observational
• Enrollment: 385 (estimated)
• Sex: All
• Sponsor: St. Jude Children's Research Hospital (Academic / other)
• Locations: 1 site (Memphis, Tennessee)
• Trial ID: NCT07314736 on ClinicalTrials.gov

What this trial studies

This mixed-methods effort uses validated surveys, semi-structured interviews, and focus groups to capture the perspectives of patients, primary caregivers, other family members, and non-family stakeholders about personalized n-of-few approaches in pediatric rare neurological diseases. Enrolled caregiver–patient dyads will complete quality-of-life and related inventories at baseline and periodically over time while interviews and focus groups elicit experiences and recommendations for consent, communication, and trial conduct. Quantitative measures will include trust in providers and researchers, resilience, and perceived utility of patient-reported outcome measures, and qualitative analysis will identify themes to inform best practices. The overall goal is to produce a practical framework to guide ethical design and communication for personalized interventions in catastrophic pediatric RND.

Who should consider this trial

Good fit: Ideal participants are primary caregivers and patients (patients ≤ 25 years; children under 21 at enrollment) with a genetic or suspected genetic ultrarare pediatric-onset neurological disorder, plus involved family members and relevant clinicians or researchers.

Not a fit: People without a pediatric-onset rare neurological condition, those not part of an affected family network, or patients with expected survival under one year are unlikely to gain direct benefit from participation.

Why it matters

Potential benefit: If successful, the project could produce a best-practice framework that improves informed consent, communication, and respect for family values in personalized pediatric RND interventions.

How similar studies have performed: Previous qualitative and survey-based ethics research in rare disease and pediatric contexts has informed guidelines, but applying these methods specifically to n-of-few personalized interventions in catastrophic pediatric RND is relatively novel.

Eligibility criteria

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).

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 Rare Disorder; Disorder, Neurologic; Rare Neurological Disorders; Stakeholders; Patient Participant; Caregiver; Other Family; Non-Family Stakeholder