Stakeholders of Rare Diseases Informing Values In Neuroethics

NCT07314736 | Recruiting

• 1 other identifier: STRIVE
• Study Type: observational
• Target: 385
• Locations: 1 country
• Sites: 1

Brief Summary

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).

Conditions

Disorder, Neurologic; Rare Disorder

Keywords

Rare Neurological Disorders (RND); Stakeholders; Patient Participant; Caregiver; Other Family; Non-Family Stakeholder

Outcome Measures

Primary Outcomes (3)

• 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

  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.

  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)

• 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.

  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.

  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)

• To develop a best practice framework for the ethical conduct of research involving personalized interventions for children with catastrophic genetic disorders of childhood onset.

  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.

  The panel will meet quarterly, beginning formal framework development in Year 3 until study completion, approximately 5 years.

Secondary Outcomes (8)

• 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.

  At baseline and every 6 months until end of study, approximately 5 years

• Human Connection Scale

  Baseline, then approximately annually during the study period, approximately 5 years

• Trust in Medical Researchers Scale

  Baseline, then approximately annually during the study period, approximately 5 years.

• Caregiver Resilience (Connor-Davidson Resilience Scale)

  Baseline, then approximately every 6 months during the study period, approximately 5 years

• Baseline, then approximately every 6 months during the study period

  Baseline, then approximately every 6 months during the study period, approximately 5 years.

Study Arms (3)

Primary Caregivers/Patients

Primary caregivers of children/young adults (age 21 or younger) and patients (age 25 or younger) diagnosed with a super-rare, catastrophic neurologic disorder without definitive FDA-approved treatment.

Other Family Stakeholders

Siblings (13 years or older) and extended family members (e.g., grandparents) and primary caregivers who prefer not to participate in the longitudinal component

Non-Family Stakeholders

Non-family stakeholders involved in the clinical care or investigational treatments of children with catastrophic illnesses.

Eligibility Criteria

• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Those who meet the Eligibility Criteria and agree to participate.

You may qualify if:

• 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

You may not qualify if:

• 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).

Sponsors & Collaborators

• St. Jude Children's Research Hospital: lead

Study Sites (1)

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

RECRUITING

Related Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude

MeSH Terms

Conditions

Rare Diseases; Nervous System Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Liza M. Johnson, MD, MPH, MSB

  St. Jude Children's Research Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Liza M. Johnson, MD, MPH, MSB

CONTACT

866-278-5833; referralinfo@stjude.org

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 16, 2025
• First Posted: January 2, 2026
• Study Start: May 1, 2026
• Primary Completion (Estimated): January 1, 2031
• Study Completion (Estimated): January 1, 2031
• Last Updated: April 8, 2026

Record last verified: 2026-04

Locations

US (1)