Palliative Care Needs of Children With Rare Diseases and Their Families

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.

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

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.

Sponsors & Collaborators

• Akron Children's Hospital

  collaborator OTHER

• Stanford University

  collaborator OTHER

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  collaborator NIH

• Children's National Research Institute

  lead OTHER

Principal Investigators

• Maureen E Lyon, PhD · Children's National Research Institute

Study Design

Allocation

RANDOMIZED

Purpose

SUPPORTIVE_CARE

Masking

SINGLE

Model

PARALLEL

Eligibility

Min Age

12 Months

Max Age

99 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2025-10-02

Primary Completion

2029-02-02

Completion

2029-08-02

Countries

• United States

Study Locations