Palliative Care Needs of Children With Rare Diseases and Their Families

NCT06938542 | Enrolling By Invitation DMC

• 2 other identifiers: R01HD117137-011R01HD117137-01
• Study Type: interventional
• Target: 480
• Locations: 1 country
• Sites: 1

Brief 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

Asparagine Synthetase Deficiency; CHARGE Syndrome; Early Infantile Epileptic Encephalopathy; FOXG1 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; Trisomy 13 Syndrome; Arthrogryposis Congenita Multiplex With Intestinal Atresia; KBG Syndrome

Keywords

pediatrics; palliative care; rare diseases; rare disorders; randomized clinical trial; advance care planning; quality of life; social connection; intervention; spirituality; anxiety; depression; caregiving

Outcome Measures

Primary Outcomes (11)

• Family Appraisal of Caregiving for Palliative Care (FACQ-PC)

  The FACQ-PC is a 25-item measure consists of four theoretically derived subscales: (i) caregiver strain, (ii) positive caregiving appraisals, (iii) caregiver distress, and (iv) family well-being. Scores are from 5 = strongly agree to 1 = strongly disagree. Investigators will not calculate a Total score. On the subscale scores for positive caregiving appraisals and family well-being, higher scores mean better outcomes, i.e. greater positive caregiving appraisals or family well-being. On the subscale scores for caregiver strain and caregiver distress, higher scores mean worse outcomes, i.e. greater caregiver strain or caregiver distress. The FACQ-PC subscale scores will be computed by taking the mean of the items (score range 1-5). Some items are reverse scored, depending on how the item is phrased, so that higher scores = higher amount of the subscale being measured. So the minimum value for each subscale is 1 and the maximum value for each subscale is 5.

  Baseline, 3-, 6-, and 12 month post-intervention

• Functional Assessment of Chronic Illness Therapy-Spirituality-12 Version 4 Expanded (FACIT-Sp-EX)

  Assessed construct of spiritual well-being. Two subscales Meaning/Peace (7 items) and Faith (5 items) and Total score (12 items) were calculated. on a 5-point Likert scale from 0=not at all to 5=very much. Some items are reverse scored. See www.facit.org Meaning/Peace subscale score range from minimum value of 0 to maximum value of 32. Higher scores indicate better meaning/peace. Faith subscale score range from 0 minimum value to maximum value of 16. Higher scores indicate better meaning/peace. Total score range is from 0 minimum value to maximum value of 92. Higher scores indicate better spiritual well-being.

  Baseline, 3-, 6-, and 12 month post-intervention

• Advance Care Plan for Child with Rare Disease Located in the Electronic Health Record (EHR).

  Documentation of an advance care plan for child with rare disease in the Electronic Health Record and decisional preference - to continue all treatments, to continue all treatments with exceptions noted, to provide comfort care only.

  Baseline and 1 year

• Child Healthcare Utilization: initiation of palliative care consultations

  Using a standardized data abstraction form to count initiation of palliative care consultations during the study.

  Baseline, 3-, 6-, 12-month.

• Generalized Anxiety Disorder-7 (GAD-7)

  Quality of life indicator with respect to emotional health-anxiety symptoms. 7 items. Higher scores indicate greater anxiety.

  Baseline, 3-, 6-, 12-month

• Patient Health Questionaire-9 (PHQ-9)

  Quality of life indicator with respect to emotional health-depressive symptoms. 9 items. Higer scores indicate higher symptoms of depression. A yes response to question 9 (self-harm) will trigger a referral.

  Baseline, 3-, 6-, 12-month

• Child Healthcare Utilization: # of days in palliative care before death.

  Using a standardized data abstraction form to count # of days in palliative care before death.

  Baseline, 3-, 6-, 12-month

• Child Healthcare Utilization: # of hospitalizations during study participation

  Using a standardized data abstraction form to count # of days hospitalized during the study.

  Baseline, 3-, 6-, 12-month

• Child Healthcare Utilization: # of Emergency Department visits during study participation

  Using a standardized data abstraction form to count # of days used Emergency Department during study.

  Baseline, 3-, 6-, 12-month

• Child Healthcare Utilization: # of days in the Intensive Care Unit (ICU)

  Using a standardized data abstraction form to count # of days was admitted to ICU during the study.

  Baseline, 3-, 6-, 12-month

• Child Healthcare Utilization: # of surgeries

  Using a standardized data abstraction form to count # of surgeries during the study.

  Baseline, 3-, 6-, 12-month

Other Outcomes (13)

• Demographic Questionnaire

  Baseline

• Process Measure: Satisfaction Questionnaire

  Week 4

• Process Measure: Role Stress

  Baseline, 3-, 6-, 12-month

Study Arms (2)

FACE-Rare

EXPERIMENTAL

FACE-Rare (CSNAT-P Sessions 1 \& 2 plus Next Steps: Respecting Choices Sessions 3). The CSNAT-Pediatric intervention consists of two assessment visits with the facilitator, 2-8 weeks apart, comprising conversations about sources for support in a tertiary children's hospital. The adapted Next Steps: Respecting Choices pediatric Advance Care Planning conversation engages families in a process for how to make future medical decisions consistent with the families' goals and values. The Respecting Choices structured and facilitated conversation has five stages. Stage 1: Assesses the family's understanding of illness. Stage 2: Explores experiences with hospitalization. Stage 3: Explores goals of care. Stage 4: Creates an Advance Care Plan; Stage 5: Questions for providers are written down. Stage 6: Follow-up plan and referrals, as needed.

Behavioral: Family Centered pediatric palliative care for family caregivers of children with rare diseases.

Enhanced Treatment As Usual (TAU)

EXPERIMENTAL

Treatment as Usual Control (TAU): To minimize the burden to families, we have chosen an enhanced (palliative care information and resources) TAU comparison condition.

Behavioral: Family Centered pediatric palliative care for family caregivers of children with rare diseases.

Interventions

Family Centered pediatric palliative care for family caregivers of children with rare diseases. BEHAVIORAL

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.

Enhanced Treatment As Usual (TAU); FACE-Rare

Eligibility Criteria

• Age: 12 Months - 99 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• ≥1.0 years and \<18.0 years at enrollment.
• Unable to participate in end-of-life care decision-making.
• Has a rare disease as operationally defined by NIH's Genetic and Rare Diseases Information Center (GARD).
• Not under a Do Not Resuscitate Order or Allow a Natural Death Order.
• Not in the Intensive Care Unit.
• \> 18.0 years at enrollment.
• Child's family caregiver/legal guardian.
• Not known to be developmentally delayed.
• \> 18.0 years at enrollment.
• Chosen by family caregiver.
• Not known to be developmentally delayed.

You may not qualify if:

• Family caregiver or support person is actively homicidal, suicidal, or psychotic at the time of enrollment.

Sponsors & Collaborators

• Children's National Research Institute: lead
• Akron Children's Hospital: collaborator
• Stanford University: collaborator
• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): collaborator

Study Sites (1)

Children's National Hospital

Washington D.C., District of Columbia, 20010, United States

Location

MeSH Terms

Conditions

Trisomy 13 Syndrome; CHARGE Syndrome; Infantile Epileptic-Dyskinetic Encephalopathy; KBG syndrome; Noonan Syndrome; Hemophilia A; Short Bowel Syndrome; Cockayne Syndrome; Hernias, Diaphragmatic, Congenital; Factor VII Deficiency; Rare Diseases; Anxiety Disorders; Depression

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Deaf-Blind Disorders; Deafness; Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Blindness; Vision Disorders; Coloboma; Eye Diseases, Hereditary; Eye Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Coagulation Protein Disorders; Hemorrhagic Disorders; Malabsorption Syndromes; Intestinal Diseases; Gastrointestinal Diseases; Digestive System Diseases; Postoperative Complications; Pathologic Processes; Dwarfism; Bone Diseases, Developmental; Bone Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Hernia, Diaphragmatic; Internal Hernia; Hernia; Pathological Conditions, Anatomical; Disease Attributes; Mental Disorders; Behavioral Symptoms; Behavior

Study Officials

• Maureen E Lyon, PhD

  Children's National Research Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Purpose: SUPPORTIVE CARE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Clinical Psychologist, Tenured Professor of Pediatrics

Study Record Dates

• First Submitted: April 8, 2025
• First Posted: April 22, 2025
• Study Start: October 2, 2025
• Primary Completion (Estimated): February 2, 2029
• Study Completion (Estimated): August 2, 2029
• Last Updated: January 28, 2026

Record last verified: 2026-01

Locations

US (1)