RecruitingNot Applicable

Stakeholders of Rare Diseases Informing Values In Neuroethics

United States385 participantsStarted 2026-07

Plain-language 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).

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

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

Timeframe: 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.

Timeframe: 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.

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

Trial details

NCT IDNCT07314736

SponsorSt. Jude Children's Research Hospital

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2031-01

Contact for this trial

Liza M. Johnson, MD, MPH, MSB

888-226-4343 referralinfo@stjude.org

View on ClinicalTrials.gov More Rare Disorder trials

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Timeframe: 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.

Timeframe: 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.

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