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Understanding Ethical Challenges in Personalized Treatments for Rare Neurological Diseases

This study, called "Stakeholders of Rare Diseases Informing Values In Neuroethics," is looking to understand the ethical challenges involved in developing personalized treatments for children with rare neurological diseases (RND). Researchers want to hear from patients, families, healthcare providers, and researchers about their thoughts and recommendations for these very specific treatments. The goal is to create a set of best practices for how to ethically conduct research on personalized treatments for children with severe genetic disorders. This is an observational study, meaning no new treatments are being tested. It aims to enroll 385 participants, including parents or caregivers of children under 21 with a genetic or suspected genetic diagnosis of an ultrarare disorder, who are expected to live at least one more year.

Study design
This is an observational study aiming to enroll 385 participants, including parents/caregivers and other stakeholders. It uses a mix of interviews, surveys, and focus groups.
What's involved
Participants in Group 1 will have semi-structured interviews at baseline and every 6 months for approximately 5 years. Participants in Groups 2 and 3 will have a single interview within 60 days of enrollment.
Compensation
Not stated in the trial record.
Follow-up
Participants in Group 1 will be followed for approximately 5 years. Participants in Groups 2 and 3 will have a single interview within 60 days of enrollment.

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NCT07314736

Stakeholders of Rare Diseases Informing Values In Neuroethics

Recruiting
Not specifiedAll AgesObservational
St. Jude Children's Research Hospital
~385 participants
Updated 2026-07-13 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Identifying key stakeholder preferences and recommendations for the ethical conduct of n-of-few approaches in pediatric patients with rare neurological diseases (RND) utilizing semi-structured interviews
Measured over At baseline and every 6 months until end of study, approximately 5 years (Group 1); Once, within 60 days of enrollment (single interview per Group 2 and 3 participant)
+2 more outcomes measured

Conditions

Rare Disorder
Disorder, Neurologic

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Nervous System Disorder

Where it's being run

1 sites across 1 states
Tennessee1

Study leadership

  • Liza M. Johnson, MD, MPH, MSB · PRINCIPAL_INVESTIGATOR · St. Jude Children's Research Hospital

Who to contact

Liza M. Johnson, MD, MPH, MSB
[email protected]
888-226-4343
Email the study team

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Eligibility criteria

Inclusion

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
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.
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

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).

What this trial measures

  • Identifying key stakeholder preferences and recommendations for the ethical conduct of n-of-few approaches in pediatric patients with rare neurological diseases (RND) utilizing semi-structured interviewsAt baseline and every 6 months until end of study, approximately 5 years (Group 1); Once, within 60 days of enrollment (single interview per Group 2 and 3 participant)

    Semi-structured interviews will be analyzed using MAXQDA software to identify themes though a systematic and standardized process. A deductive approach willl be used to formulate initial codes based on research questions and interview guides developed. Additional themes and codes will be developed using an inductive approach where new codes are allowed to emerge after review of the transcripts by three study team members trained in content analysis. To compensate for the multiple appearance of a code in a single interview, the percentage of patients for whom the code appeared will be tallied. Codes will be grouped and identified as a theme that captures the shared meaning. The definitions of each of the combined codes will be compared to arrive at a final definition for each theme. As with the codes, the frequency of occurrence of each theme and the percentage of patients to which each theme applied will be tallied, as well as inter-rater reliability.

  • Identify key challenges and ethics-informed best practices for the development and implementation of personalized or n-of-few genomic interventions for rare and catastrophic pediatric disorders.At baseline and every 6 months until end of study, approximately 5 years (Group 1); Once, within 60 days of enrollment (single interview per Group 2 and 3 participant)

    Semi-structured interviews will be analyzed using MAXQDA software to identify themes though a systematic and standardized process. A deductive approach will be used to formulate initial codes based on research questions and interview guides developed. Additional themes and codes will be developed using an inductive approach where new codes are allowed to emerge after review of the transcripts by three study team members trained in content analysis. To compensate for the multiple appearance of a code in a single interview, the percentage of patients for whom the code appeared will be tallied. Codes will be grouped and identified as a theme that captures the shared meaning. The definitions of each of the combined codes will be compared to arrive at a final definition for each theme. As with the codes, the frequency of occurrence of each theme and the percentage of patients to which each theme applied will be tallied, as well as inter-rater reliability.

  • To develop a best practice framework for the ethical conduct of research involving personalized interventions for children with catastrophic genetic disorders of childhood onset.The panel will meet quarterly, beginning formal framework development in Year 3 until study completion, approximately 5 years.

    An interdisciplinary advisory panel of approximately 20 expert partners will be established. The panel will be presented with clearly defined problems-on elements of respect for persons (informed consent, parental autonomy), beneficence (risk-benefit assessments), justice (fair subject selection, equity) and research obligations, among others-which will be reframed to them from multiple perspectives (from results of Objective 1 and 2). The working group will engage in decisional analysis, identifying and evaluating value trade-offs through moral discussion and consensus. This iterative process of integrating normative content with empirical findings will then lead to practical recommendations, optimizing positives and minimizing negatives.