Recruiting

Observational Study

Sponsor:

St. Jude Children's Research Hospital

Code:

NCT07314736

Conditions

Rare Disorder

Disorder, Neurologic

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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

Rare Disorder

Disorder, Neurologic

Study ID

NCT07314736

Start date

Jul 8, 2026

Status verified date

Jun, 2026

Completion date

Jan, 2031

Anticipated

Primary completion date

Jan, 2031

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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).

Study Design

Enrollment

385 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • 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 [ Time Frame: 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. [ Time Frame: 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. [ Time Frame: The panel will meet quarterly, beginning formal framework development in Year 3 until study completion, approximately 5 years. ]

Central Contacts and Locations

Central contacts

Liza M. Johnson, MD, MPH, MSB

888-226-4343referralinfo@stjude.org

Locations

St. Jude Children's Research Hospital

Recruiting

Memphis, Tennessee, United States, 38105

Contacts

Liza M. Johnson, MD, MPH, MSB

888-226-4343referralinfo@stjude.org

Principal Investigator:

Liza M. Johnson, MD, MPH, MSB

More Information

Sponsor

St. Jude Children's Research Hospital

Last update posted

Jul 13, 2026

Last verified

Jun, 2026

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by St. Jude Children's Research Hospital on 2026-07-13.