FACE for Children With Rare Diseases

NCT04855734 | Completed Results DMC

• 2 other identifiers: 000088081R21NR019340-01
• Study Type: interventional
• Target: 42
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Rare Diseases

Keywords

palliative care; psychosocial interventions; rare diseases; family interventions; family-centered care; patient-centered care; pediatrics; adolescent; end-of-life care; public health; mental health; spirituality; children with rare diseases; behavioral interventions; decisional burden; role stress; family caregiver; person-centered care; chronic conditions; complex health needs; caregiver burden; respecting choices; evidence-based practice; randomized clinical trial (RCT); anxiety

Outcome Measures

Primary Outcomes (6)

• 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

• 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

• 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

• 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

Secondary Outcomes (4)

• Brief-Multidimensional Measure of Religion and Spirituality - Responses to Question 1

  Baseline and 3-month follow-up.

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

  Change from Baseline appraisal of Caregiving at 12 weeks Post-Enrollment

• Hickman Role Stress Decisional Burden Scale

  Up to 5 Weeks Post-Enrollment

• Brief Multidimensional Measurement of Religiousness/Spirituality (BMMRS-adapted) Survey Responses to Question 2.

  Baseline and 3-month follow-up

Other Outcomes (5)

• Satisfaction Questionnaire (Process Measure)

  Up to 5 Weeks Post-Baseline

• Quality of Communication Questionnaire

  Up to 5 Weeks Post-Baseline

• Brief Multidimensional Measure of Religiousness/Spirituality (Brief MMRS) "How Often do You go to Religious Services?"

  Baseline to 3 month follow-up

Study Arms (2)

FACE-Rare Intervention

EXPERIMENTAL

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

Treatment-as-Usual (TAU) Control

NO INTERVENTION

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.

Interventions

FAmily CEntered (FACE) pACP Intervention BEHAVIORAL

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 \[Session 3\].

Also known as: FACE-Rare Intervention

FACE-Rare Intervention

Eligibility Criteria

• Age: 1 Year - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• ≥1.0 years and \<18.0 years at enrollment;e
• unable to participate in end-of-life care decision-making;
• have a rare disease as operationally defined (See Human Subjects);
• not under a Do Not Resuscitate Order or Allow a Natural Death Order; and
• not in the Intensive Care Unit.
• ≥ 18.0 years at enrollment;
• legal guardian of child and child's caregiver;
• can speak and understand English; and
• not known to be developmentally delayed.

You may not qualify if:

• (1) Family caregiver is actively homicidal, suicidal, or psychotic at the time of enrollment.

Sponsors & Collaborators

• Children's National Research Institute: lead
• Respecting Choices: collaborator
• National Institutes of Health (NIH): collaborator
• National Institute of Nursing Research (NINR): collaborator

Study Sites (1)

Children's National Hospital

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

Location

Related Publications (9)

• 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.

  PMID: 35884083 BACKGROUND

• 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.

  PMID: 35626888 BACKGROUND

• 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.

  PMID: 35327817 BACKGROUND

• 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.

  PMID: 35327694 BACKGROUND

• 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.

  PMID: 31345846 BACKGROUND

• 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.

  PMID: 33033802 BACKGROUND

• - 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.

  RESULT

• - 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.

  RESULT

• 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.

  RESULT

Related 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.

MeSH Terms

Conditions

Rare Diseases; Psychological Well-Being; Chronic Disease; Caregiver Burden; Anxiety Disorders

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Personal Satisfaction; Behavior; Stress, Psychological; Behavioral Symptoms; Mental Disorders

Limitations and Caveats

Small sample size increased the risk of Type II error. We did not have enough power to detect differences in most of the outcome measures. Single site limits generalizability. Social desirability bias could have occurred with remote, but face-to-face, administration of study questionnaires.

Results Point of Contact

• Title: Dr. Maureen E. Lyon, Clinical Health Psychologist, Professor of Pediatrics
• Organization: Children's National Hospital

mlyon@childrensnational.org

703-346-2873

Study Officials

• Maureen E Lyon, PhD

  Children's National Research Institute

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: Yes
• Restrictive Agreement: No

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Masking Details: Study arm allocation will be concealed from the Research Assistant (RA) Assessor to prevent bias during the administration of outcome questionnaires, process measures, and chart abstraction.
• Purpose: SUPPORTIVE CARE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr. Maureen Lyon, Ph.D, ABPP

Model Details: Investigators propose a pilot, two-arm, intent-to-treat, single-blinded, single-site, controlled RCT. Family/child dyads (N=30) will be enrolled and randomized to either the FACE-Rare intervention or treatment as usual (TAU) at a 1:1 ratio.

Study Record Dates

• First Submitted: February 22, 2021
• First Posted: April 22, 2021
• Study Start: July 6, 2021
• Primary Completion: December 31, 2023
• Study Completion: June 1, 2024
• Last Updated: May 4, 2025
• Results First Posted: May 4, 2025

Record last verified: 2025-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)