NCT06938542

Palliative Care Needs of Children With Rare Diseases and Their Families

• Status: Enrolling By Invitation
• Phase: N/A
• Study type: Interventional
• Enrollment: 480 (estimated)
• Sponsor: Children's National Research Institute · Academic / Other
• Sex: All
• Age: 12 Months – 99 Years
• Healthy volunteers: Accepted

Summary

The palliative care needs of family caregivers of children with rare diseases and their children are largely unmet, including the need for support to prepare for future medical decision making. This trial will test the FACE-Rare intervention to see if investigators can identify and meet those needs; and if FACE-Rare effects family caregivers' quality of life and child healthcare utilization. Finally, investigators will determine if the intersectionality of child-sex, family-race, Federal poverty level, and social connection influences family quality of life and child health care utilization longitudinally.

Detailed description

Pediatric patients with rare diseases experience high mortality with 30% not living to see their 5th birthday. Families are likely to be asked to make complex medical decisions for their child. Pediatric advance care planning involves preparation and skill development to help make future medical care choices. Children with rare disorders are a heterogeneous group, resulting in their exclusion from research. Available research on families of children with rare diseases lacks scientific rigor. Although desperately needed, there are few empirically validated interventions to address these issues. Investigators propose to close a gap in our knowledge of families' needs for support in a heterogeneous group of children with rare diseases; and to test an advance care planning intervention. The FAmily CEntered (FACE) pediatric advance care planning intervention is adapted to families with children who have rare diseases. Theoretically informed and developed and adapted by the principal investigator and key stakeholders, the proposed intervention will use Respecting Choices Next Steps Pediatric ACP™ for families whose child is unable to participate in health care decision-making. Our consultation with families of children with rare disorders and the National Organization for Rare Disorders (NORD) revealed that basic palliative care needs should be addressed first, prior to an advance care planning intervention. For the study to be able to meet this request, all families randomized to the intervention will first complete the Carer Support Needs Assessment Tool (CSNAT)© adapted by investigators for use in pediatrics. In the CSNAT Approach, facilitators assess caregivers' prioritized palliative care needs and develop Shared Action Plans for increasing informal social support. Thus, investigators propose an innovative 3-session FACE-Rare intervention, integrating two evidence-based approaches. Investigators will evaluate FACE-Rare using a scientifically rigorous intent-to-treat, assessor-blinded, longitudinal, prospective, three-site, randomized controlled trial design. Family/child triads (N=160) will be randomized to FACE-Rare (CSNAT Sessions 1 \& 2 plus Respecting Choices Sessions 3) or an enhanced information Treatment as Usual control group. All families will complete questionnaires at baseline and follow-up at 3-, 6- and 12 months. Investigators will evaluate the effect of FACE-Rare on family quality of life (caregiver appraisal, psychological, spiritual). Investigators will assess the palliative care needs of families at four time points. Investigators will determine the intersectionality of child-sex, family-race, and household income on family caregiver quality of life and child healthcare utilization. Investigators will explore the influence of urban vs. rural setting and religious coping on quality-of-life outcomes. Investigators will use advanced statistical methods informed by statistical advice from rare disease investigators for clinical trials in small populations.

Conditions

• Trisomy 13 Syndrome
• Arthrogryposis Congenita Multiplex With Intestinal Atresia
• Asparagine Synthetase Deficiency
• CHARGE Syndrome
• Early Infantile Epileptic Encephalopathy
• FOXG1 Syndrome
• KBG Syndrome
• Noonan Syndrome
• Severe Hemophilia A
• Short Bowel Syndrome
• Beta-Propeller Protein-Associated Neurodegeneration
• Brain Injury of Prematurity With Periventricular Leukomalacia
• Chromosome 17p13.3 Microdeletion Syndrome
• Chromosome 1q43-1q44 Deletion
• Cockayne Syndrome
• Congenital Diaphragmatic Hernia
• End-Stage Renal Disease With Cloacal Anomaly
• Mitochondrial Depletion Disorder
• Severe Factor VII Deficiency

Interventions

Type	Name	Description
BEHAVIORAL	Family Centered pediatric palliative care for family caregivers of children with rare diseases.	Child with rare disease who is unable to participate in medical decision making/family caregiver/support person triads will be randomized at a 1:1 ratio to one of two study arms, either the 3 session FACE-Rare intervention or the enhanced Treatment as Usual. Assessments will be completed at baseline, 3, 6 and 12 month outcomes.

Timeline

• Start date: 2025-10-02
• Primary completion: 2029-02-02
• Completion: 2029-08-02
• First posted: 2025-04-22
• Last updated: 2026-01-28

Locations

1 site across 1 country: United States