Palliative Care Needs of Children With Rare Diseases and Their Families (FACE-Rare)

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.

Study Overview

• Status: Enrolling by invitation
• Conditions: Congenital Diaphragmatic Hernia; Severe Hemophilia A; Noonan Syndrome; Short Bowel Syndrome; Trisomy 13 Syndrome; Cockayne Syndrome; CHARGE Syndrome; Beta-Propeller Protein-Associated Neurodegeneration; Early Infantile Epileptic Encephalopathy; Asparagine Synthetase Deficiency; FOXG1 Syndrome; KBG Syndrome; Arthrogryposis Congenita Multiplex With Intestinal Atresia; Brain Injury of Prematurity With Periventricular Leukomalacia; Chromosome 17p13.3 Microdeletion Syndrome; Chromosome 1q43-1q44 Deletion; End-Stage Renal Disease With Cloacal Anomaly; Mitochondrial Depletion Disorder; Severe Factor VII Deficiency
• Intervention / Treatment: Behavioral: Family Centered pediatric palliative care for family caregivers of children with rare diseases.

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.

• Study Type: Interventional
• Enrollment (Estimated): 480
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • District of Columbia
    • Washington D.C., District of Columbia, United States, 20010
      • Children's National Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

Description

Child inclusion criteria:

• ≥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.

Family caregiver inclusion criteria:

• > 18.0 years at enrollment.
• Child's family caregiver/legal guardian.
• Not known to be developmentally delayed.

Support person inclusion criteria:

• > 18.0 years at enrollment.
• Chosen by family caregiver.
• Not known to be developmentally delayed.

Exclusion Criteria:

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Supportive Care
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: Single

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: FACE-Rare; 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.; 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.
Experimental: Enhanced Treatment As Usual (TAU); 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.; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Demographic Questionnaire	Age of family caregiver, support person, and child.	Baseline
Process Measure: Satisfaction Questionnaire	Study specific process measure to assess adverse events and benefit/burden of participation. 13 items. Higher scores indicate greater satisfaction. Items are on a 5-point Likert scale from strongly disagree to strongly agree. 6 items were negative (felt afraid, too much to handle, harmful, angry, sad, hurtful) and 7 items were positive (useful, helpful, load off my mind, satisfied, something I needed to do, courageous, worthwhile). Each subscale is scored separately. Higher score for positive scale was better outcome. Higher score for negative scale was worse outcome.	Week 4
Process Measure: Role Stress	Visual analogue scale 0-100. "How stressful is it for you to make medical decisions for your child?" 1 item.	Baseline, 3-, 6-, 12-month
Brief-Multidimensional Measure of Spirituality and Religion (Brief MMRS)	Responses to 5 items from our previous research will be used to test moderator effects: "How often do you go to religious services? How often do you feel God's presence? how often do you pray privately? Do you identify as a religious person? Do you identify as a spiritual person?" Responses are on a 5 point likert scale. Higher scores indicated greater attendance at religious services, etc.	Baseline, 3-, 6-, 12-month
BRICS (Brazil, Russia, India, China, South Africa) National Institute of Nursing Research (NINR) Social Determinants of Health (SDOH)	NINR/National Institute of Health: "The SDOH are the conditions in which people are born, grow, live, work and age…." 32 items. Social connection score (how often, talk on telephone with family, friends, neighbors; get together; attend church or religious services; belong to clubs or organizations; marital partner status) and 2023 Federal Poverty Level for household income. Health insurance and housing insecurity will be used in secondary analysis.	Baseline, 3-, 6-, 12-month
Health Resources and Services Administration (HRSA) Rural Health Grants Eligibility Analyzer	Urban vs. rural setting. Address of participant is entered into the online analyzer, and it determines if this is a rural or urban setting which will be recorded in the data base.	Baseline, 3-, 6-, 12-month
Carer Alert Thermometer (CAT)	Measures child and family caregiver palliative care needs: The CAT is an evidence-based, comprehensive tool comprising 12 questions (broad areas of support need), used to identify two domains of unmet support needs, the current caring situation and the health and well-being of the caregiver. There is a traffic light scoring system so caregivers can rate their support need as green (low), amber (medium), and red (high) indicating level of need and potential risk each alert poses to the caregiving situation. Administered only to intervention participants.	Sessions 1 and 2 -- 2 and 3-4 weeks post baseline
Demographic Questionnaire - Sex	Sex of child, family caregiver and support person.	Baseline.
Demographic Questionnaire - Race	Race of child, family caregiver, and support person	Baseline.
Demographic Questionnaire - Ethnicity	Ethnicity of child, family caregiver, and support person.	Baseline.
Demographic Questionnaire - Marital status.	Marital status of family caregiver and support person.	Baseline.
Demographic Questionnaire - Education.	Education of family caregiver and support person.	Baseline.
Demographic Questionnaire - Federal Poverty Level.	Income above or below the 2025 Federal Poverty Level. Number of persons living in the household and household income will be collected to calculate these data.	Baseline.

Collaborators and Investigators

• Sponsor: Children's National Research Institute
• Collaborators: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); Stanford University; Akron Children's Hospital
• Investigators: Principal Investigator: Maureen E Lyon, PhD, Children's National Research Institute

Study record dates

Study Major Dates

• Study Start (Actual): October 2, 2025
• Primary Completion (Estimated): February 2, 2029
• Study Completion (Estimated): August 2, 2029

Study Registration Dates

• First Submitted: April 8, 2025
• First Submitted That Met QC Criteria: April 14, 2025
• First Posted (Actual): April 22, 2025

Study Record Updates

• Last Update Posted (Actual): January 28, 2026
• Last Update Submitted That Met QC Criteria: January 27, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: palliative care; pediatrics; quality of life; depression; anxiety; caregiving; intervention; randomized clinical trial; spirituality; advance care planning; social connection; rare diseases; rare disorders
• Additional Relevant MeSH Terms: Internal Hernia; Neurologic Manifestations; Bone Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases; Mental Disorders; Postoperative Complications; Pathologic Processes; Pathological Conditions, Anatomical; Heart Diseases; Disease Attributes; Genetic Diseases, Inborn; Metabolic Diseases; Intestinal Diseases; Connective Tissue Diseases; Behavioral Symptoms; Digestive System Diseases; Gastrointestinal Diseases; Neurobehavioral Manifestations; Eye Diseases; Hematologic Diseases; Neurodegenerative Diseases; Eye Diseases, Hereditary; Malabsorption Syndromes; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Congenital Abnormalities; Otorhinolaryngologic Diseases; Hernia; Vision Disorders; Sensation Disorders; Blood Coagulation Disorders; Cardiovascular Abnormalities; Heart Defects, Congenital; Abnormalities, Multiple; Heredodegenerative Disorders, Nervous System; Ear Diseases; Hemorrhagic Disorders; Intellectual Disability; Blood Coagulation Disorders, Inherited; Coagulation Protein Disorders; DNA Repair-Deficiency Disorders; Hernia, Diaphragmatic; Deaf-Blind Disorders; Deafness; Hearing Loss; Hearing Disorders; Blindness; Chromosome Disorders; Bone Diseases, Developmental; Dwarfism; Coloboma; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Behavior; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Signs and Symptoms; Hemic and Lymphatic Diseases; Trisomy 13 Syndrome; Anxiety Disorders; Depression; Rare Diseases; Hemophilia A; Hernias, Diaphragmatic, Congenital; Short Bowel Syndrome; Noonan Syndrome; Cockayne Syndrome; Factor VII Deficiency; CHARGE Syndrome; Infantile Epileptic-Dyskinetic Encephalopathy; KBG syndrome
• Other Study ID Numbers: R01HD117137-01 (U.S. NIH Grant/Contract); 1R01HD117137-01 (U.S. NIH Grant/Contract)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No