FACE for Children With Rare Diseases

NCT ID: NCT04855734

Last Updated: 2025-05-04

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 42 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-07-06
• Study Completion Date: 2024-06-01

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.

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.

Conditions

Rare Diseases

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: SUPPORTIVE_CARE
• Blinding Strategy: SINGLE

Study Groups

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.

Group Type: EXPERIMENTAL

FAmily CEntered (FACE) pACP Intervention

Intervention Type: 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 \[Session 3\].

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.

Group Type: NO_INTERVENTION

No interventions assigned to this group

Interventions

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 \[Session 3\].

Intervention Type: BEHAVIORAL

Other Intervention Names

FACE-Rare Intervention

Eligibility Criteria

Inclusion Criteria

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.

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.

• Minimum Eligible Age: 1 Year
• Maximum Eligible Age: 99 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Respecting Choices

UNKNOWN

Sponsor Role: collaborator

National Institutes of Health (NIH)

NIH

Sponsor Role: collaborator

National Institute of Nursing Research (NINR)

NIH

Sponsor Role: collaborator

Children's National Research Institute

OTHER

Sponsor Role: lead

Responsible Party

Maureen Lyon

Dr. Maureen Lyon, Ph.D, ABPP

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Maureen E Lyon, PhD

Role: PRINCIPAL_INVESTIGATOR

Children's National Research Institute

Locations

Children's National Hospital

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

Countries

United States

References

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.

Reference Type: BACKGROUND

PMID: 35884083 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 35626888 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 35327817 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 35327694 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 31345846 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 33033802 (View on PubMed)

- 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.

Reference Type: 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.

Reference Type: 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.

Reference Type: RESULT

Provided Documents

Document Type: Study Protocol and Statistical Analysis Plan

View Document

Document Type: Informed Consent Form

View Document

Related Links

https://doi.org/10.1136/spcare-2023-ACP.39

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.

Other Identifiers

1R21NR019340-01

Identifier Type: NIH

Identifier Source: secondary_id

View Link

00008808

Identifier Type: -

Identifier Source: org_study_id