FACE for Children With Rare Diseases (FACE-Rare)

Palliative Care Needs of Children With Rare Diseases and Their Families

Children with ultra-rare or complex rare diseases are routinely excluded from research studies because of their conditions, creating a health disparity. However, new statistical techniques make it possible to study small samples of heterogeneous populations. We propose to study the palliative care needs of family caregivers of children with ultra-rare diseases and to pilot test a palliative care needs assessment and advance care planning intervention to facilitate discussions about the future medical care choices families are likely to be asked to make for their child.

Study Overview

• Status: Completed
• Conditions: Rare Diseases
• Intervention / Treatment: Behavioral: FAmily CEntered (FACE) pACP Intervention

Detailed Description

A rare disease is a condition affecting fewer than 200,000 persons. 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 often with co-morbidities, resulting in their exclusion from research, thereby creating a health disparity for this vulnerable population. 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. We 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, proven successful with cancer and HIV, is adapted to families with children who have rare diseases. Theoretically informed and developed by the PI, Dr. Lyon, and colleagues, the proposed intervention will use Respecting Choices Next Steps Pediatric Advance Care Planning™ 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, before 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)© which our investigative team adapted for use in pediatrics. In the CSNAT Approach, facilitators assess caregivers' prioritized palliative care needs and develop Shared Action Plans for palliative care support. Thus, we propose an innovative 3-session FACE-Rare intervention, integrating two evidence-based approaches. We will evaluate FACE-Rare using a scientifically rigorous intent-to-treat, single-blinded, randomized controlled trial design. Family/child pairs or dyads (N=30 dyads) will be randomized to FACE-Rare (CSNAT Sessions 1 & 2 plus Respecting Choices Sessions 3) or control (Treatment As Usual) groups. Both groups will receive palliative care information. All families will complete questionnaires at baseline and 3-months follow-up. Investigators will evaluate the initial efficacy of FACE-Rare on family quality of life (psychological, spiritual). We will estimate how religiousness and caregiver appraisal influence families' quality of life. We will also explore health care utilization by the children during the study and family satisfaction.

If the aims of this pilot trial are achieved, a future, large, multi-site trial will test the full theoretical model to improve care for children with rare diseases and their families through family engaged pediatric Advance Care Planning. The ultimate goal is to minimize suffering and enhance the quality of life of family caregivers of children with rare diseases; and through this process to improve the palliative care of their children.

• Study Type: Interventional
• Enrollment (Actual): 42
• Phase: Not Applicable

Contacts and Locations

Study Locations

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

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 99 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

Child inclusion criteria are

1. ≥1.0 years and <18.0 years at enrollment;e
2. unable to participate in end-of-life care decision-making;
3. have a rare disease as operationally defined (See Human Subjects);
4. not under a Do Not Resuscitate Order or Allow a Natural Death Order; and
5. not in the Intensive Care Unit.

Family caregiver inclusion criteria are:

1. ≥ 18.0 years at enrollment;
2. legal guardian of child and child's caregiver;
3. can speak and understand English; and
4. not known to be developmentally delayed.

Exclusion Criteria:

(1) Family caregiver 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 Intervention; FACE-Rare is a behavioral intervention that combines the CSNAT Pediatric Approach and the Respecting Choices® Next Steps ACP over 3 sessions. Sessions 1&2: CSNAT is an evidence-based process of family caregiver assessment and support in specialized medical (palliative) care. The CSNAT tool is structured around 16 categories of family caregiver support. With the goal to decrease caregiver burden, this process consists of 5 stages wherein a nurse or practitioner works with the caregiver to create a shared support plan for the child. Session 3: Respecting Choices® Next Steps- This advanced care planning (pACP) conversation engages families in a process for how to make future medical decisions consistent with their goals and values. The interview is structured in 6 stages to achieve 2 main goals: to facilitate conversations with the family about their child's medical condition, history, fears, values, beliefs, and hopes; and to set the stage for the family's future healthcare decisions.	Behavioral: FAmily CEntered (FACE) pACP Intervention; The (approximately) weekly 3-session FACE-Rare intervention of approximately 45-60 minutes each is comprised of the CSNAT approach [Sessions 1 & 2] and Respecting Choices [Session 3].; Other Names: FACE-Rare Intervention
No Intervention: Treatment-as-Usual (TAU) Control; To minimize the burden to families, we have chosen a Treatment-as-Usual (TAU) comparison condition, where patients will receive their normal standard of care. Both study arms will receive palliative (specialized medical) care information at enrollment and complete questionnaires before and after the intervention or TAU period. Current practice for minors with life-limiting illnesses is to defer initial discussions of advanced care planning (pACP) until a medical crisis, so this is what the TAU control arm condition will consist of.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Days in Palliative Care Prior to Death	Score is number of days patient was enrolled in a palliative care program in the 30 days prior to death. Applicable only to patients who have deceased since study enrollment. Used to standardize child healthcare utilization from data abstraction based on retrospective medical chart review. Minimum value is 0 with no maximum. Higher score indicates higher level of healthcare utilization.	12 weeks Post-Enrollment
Place of Death	Location where the patient was pronounced dead, as reported in their EMR. Applicable only to patients who have deceased since study enrollment. Categories are Inpatient hospice setting, Home with hospice, Home without hospice, Hospital ICU, Hospital-Not ICU, Other, or Unknown. Used to standardize child healthcare utilization from data abstraction based on retrospective medical chart review.	12 weeks Post-Enrollment
Beck Anxiety Inventory	The Beck Anxiety Inventory (BAI) is a 21-item measure of anxiety rated on a 4-point Likert scale of symptoms over the past week. The BAI has demonstrated reliability and validity to assess anxiety in individuals aged 17-80 years. The BAI has good reliability and validity for family caregivers of seriously ill children. It is a measure of Quality of life: emotional health. Higher scores mean more anxiety symptoms. Total score was used in analysis. Scores range from 0-63.	Change from Baseline Anxiety at 3 Months Post-Enrollment
Functional Assessment of Chronic Illness Therapy (FACIT)- Spiritual Well-Being Scale, Version 4	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. Higher scores indicate better spiritual well-being.	Change from Baseline Spiritual Well-Being at 3 Months Post-Enrollment
Advance Care Plan Document for Children With Rare Diseases	Advanced Care Planning (ACP) Documentation in Electronic Health Records (EHR). Score will be present in EHR or absent from EHR. Evidence of any advance care document (yes/no) will count.	Change from Baseline ACP Documentation in the Electronic Health Record at 12 weeks Post-Enrollment
Hospitalizations	Used to standardize child healthcare utilization from data abstraction by the research nurse based on medical chart review in Electronic Health Record. Score is recorded number of inpatient hospital admissions for clinical treatment for the child with a rare disease. Minimum value is 0 with no maximum. Higher score indicates higher level of healthcare utilization. Questions was "Hospitalization in the last 3 months?"	Change from Baseline to Frequency at 12 weeks Post-Enrollment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Hickman Role Stress Decisional Burden Scale	Visual analogue scale 0-100. "How stressful is it for you to make medical decisions for your child?" 1 item. Higher score means more stress, lower scores mean less stress.	Up to 5 Weeks Post-Enrollment
Brief-Multidimensional Measure of Religion and Spirituality - Responses to Question 1	Survey responses to: 1. How often do you feel God's presence? On 6-point Likert-scale responses range from every day to never or almost never.	Baseline and 3-month follow-up.
Family Appraisal of Caregiving Questionnaire for Palliative Care 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. We did not calculate a Total score. We only used the 4 subscale scores. 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 were computed by taking the mean of the items (score range 1-5). Some items were 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.	Change from Baseline appraisal of Caregiving at 12 weeks Post-Enrollment
Brief Multidimensional Measurement of Religiousness/Spirituality (BMMRS-adapted) Survey Responses to Question 2.	Responses to survey question 2, How often do you pray privately? 7 point Likert scale ranging from a few times a month to once a day. Higher scores in pray item indicate more prayer.	Baseline and 3-month follow-up

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Satisfaction Questionnaire (Process Measure)	Items for this 13-item assessment of family satisfaction with the intervention were developed using input from the community about the emotional aspects of participation. 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 item was scored separately. Higher score for positive scale was better outcome. Higher score for negative scale was worse outcome. Study-specific process measure to assess adverse events and benefit/burden of participation. 12 items Total.	Up to 5 Weeks Post-Baseline
Quality of Communication Questionnaire	This is a process, not an outcome, measure. The participant is asked to rate how good the facilitator was for each of 4 communication skills on a scale from 0, definitely no, to 5, definitely yes. Higher scores mean better communication. Minimum score was 4. Maximum score was 20. We did not calculate a total score, as this was a process measure to assess the facilitator's communication and to provide feedback to the facilitator.	Up to 5 Weeks Post-Baseline
Brief Multidimensional Measure of Religiousness/Spirituality (Brief MMRS) "How Often do You go to Religious Services?"	Responses to "How often do you go to religious services?" Responses ranged from "once or twice a year" to "more than once a week." Higher scores indicated greater attendance at religious services. Responses were used as a covariate in the initial Generalized linear mixed effect models. Prior research had indicated that this variable moderated quality of life outcomes. Higher scores indicate more attendance at religious services.	Baseline to 3 month follow-up
Brief Multidimensional Measure of Religiousness/Spirituality (Brief MMRS): "To What Extent do You Consider Yourself a Religious Person?"	Responses to "To what extent do you consider yourself a religious person?" Responses ranged from "moderately religious" to "not religious at all." Higher scores indicated higher religiousness. Responses were collected as a covariate in the initial Generalized linear mixed effect models. Prior research had indicated that this variable moderated quality of life outcomes. Higher scores in the religious indicate self-perception as a more religious person.	Baseline and 3 month follow-up
Brief Multidimensional Measurement of Religiousness/Spirituality (BMMRS-adapted): To What Extent do You Consider Yourself a Spiritual Person?	Responses to "To What Extent do You Consider Yourself a spiritual person?" Responses ranged from "not spiritual at all" to "very spiritual." Higher score meant more spiritual. Reported are frequency distributions and percentages. A higher score on the spiritual person item indicates self-perception as more spiritual.	Baseline to 3 month outcomes.

Collaborators and Investigators

• Sponsor: Children's National Research Institute
• Collaborators: National Institute of Nursing Research (NINR); National Institutes of Health (NIH); Respecting Choices
• Investigators: Principal Investigator: Maureen E Lyon, PhD, Children's National Research Institute

Publications and helpful links

General Publications

• Lyon ME, Wiener L. Special Issue: Psychosocial Considerations for Children and Adolescents Living with a Rare Disease. Children (Basel). 2022 Jul 21;9(7):1099. doi: 10.3390/children9071099.
• Sandquist M, Davenport T, Monaco J, Lyon ME. The Transition to Adulthood for Youth Living with Rare Diseases. Children (Basel). 2022 May 12;9(5):710. doi: 10.3390/children9050710.
• Fratantoni K, Livingston J, Schellinger SE, Aoun SM, Lyon ME. Family-Centered Advance Care Planning: What Matters Most for Parents of Children with Rare Diseases. Children (Basel). 2022 Mar 21;9(3):445. doi: 10.3390/children9030445.
• Aoun SM, Stegmann R, Deleuil R, Momber S, Cuddeford L, Phillips MB, Lyon ME, Gill FJ. "It Is a Whole Different Life from the Life I Used to Live": Assessing Parents' Support Needs in Paediatric Palliative Care. Children (Basel). 2022 Mar 1;9(3):322. doi: 10.3390/children9030322.
• Lyon ME, Thompkins JD, Fratantoni K, Fraser JL, Schellinger SE, Briggs L, Friebert S, Aoun S, Cheng YI, Wang J. Family caregivers of children and adolescents with rare diseases: a novel palliative care intervention. BMJ Support Palliat Care. 2022 Nov;12(e5):e705-e714. doi: 10.1136/bmjspcare-2019-001766. Epub 2019 Jul 25.
• Aoun SM, Gill FJ, Phillips MB, Momber S, Cuddeford L, Deleuil R, Stegmann R, Howting D, Lyon ME. The profile and support needs of parents in paediatric palliative care: comparing cancer and non-cancer groups. Palliat Care Soc Pract. 2020 Sep 25;14:2632352420958000. doi: 10.1177/2632352420958000. eCollection 2020.
• - Kreicbergs U (Discussant), Handberg C, Udo C, Thompkins J (presenter) Lyon ME (organizer). Symposium: Lessons Learned during the COVID-19 and Beyond Pandemic for Children Living with Rare Diseases and their Siblings. Lyon Presentation: Family Identified Palliative Care Needs of FAmily Caregivers of Children Living with Rare Diseases during COVID-19-United States 7th Public Health Palliative Care International Conference. September 21, 2022. Bruges, Belgium.
• - Lyon, ME, Fraser J, Thompkins J (presenter). FACE Rare: A novel palliative care intervention for family caregivers of children and adolescents living with a rare disease. Podium Presentation. University of Pittsburgh's National Center on Family Support's Second Biennial Conference on Caregiving Research. Building Bridges: Advancing Family Caregiving Research Across the Lifespan, National Center on Caregiving. Pittsburg, PA. October 1, 2022.
• Lyon ML. Detwiler K, Torres C, Guerrera MF, Thompkins J. FACE-Rare: A Novel Intervention for Family Caregivers of Children Living with Rare Diseases. BMJ Supportive & Palliative Care 2023;13(Suppl 4):A16.

Helpful Links

• Lyon ML. Detwiler K, Torres C, Guerrera MF, Thompkins J. FACE-Rare: A Novel Intervention for Family Caregivers of Children Living with Rare Diseases. BMJ Supportive & Palliative Care 2023;13(Suppl 4):A16.

Study record dates

Study Major Dates

• Study Start (Actual): July 6, 2021
• Primary Completion (Actual): December 31, 2023
• Study Completion (Actual): June 1, 2024

Study Registration Dates

• First Submitted: February 22, 2021
• First Submitted That Met QC Criteria: April 21, 2021
• First Posted (Actual): April 22, 2021

Study Record Updates

• Last Update Posted (Actual): May 4, 2025
• Last Update Submitted That Met QC Criteria: April 17, 2025
• Last Verified: April 1, 2025

More Information

Terms related to this study

• Keywords: palliative care; pediatrics; caregiver burden; adolescent; mental health; anxiety; patient-centered care; spirituality; public health; family caregiver; end-of-life care; evidence-based practice; rare diseases; psychosocial interventions; family-centered care; chronic conditions; behavioral interventions; family interventions; children with rare diseases; decisional burden; role stress; person-centered care; complex health needs; respecting choices; randomized clinical trial (RCT)
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Rare Diseases
• Other Study ID Numbers: 00008808; 1R21NR019340-01 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

IPD Plan Description

The proposed research will include data from 30 children living with rare diseases who are unable to participate in their own medical care decision-making and their 30 family caregivers. The final dataset will be stripped of individual-level identifiable data prior to release for sharing. Given the vulnerable nature of the subjects (child participants), we will make the data and associated documentation available to researchers under a data-sharing agreement that includes:

1. appropriate human-subjects review and approval; and
2. a commitment to use the data only for research purposes and that no attempt will be made to identify individual participants.

The Biostatistics group will perform the mechanics of de-identification and provide the data in an agreed-upon format. De-identification will include stripping the data of PHI; removing dates or adding a random offset to the dates. Only de-identified group data will be shared. This protects participant confidentiality.

Drug and device information, study documents

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