FACE for Children With Rare Diseases

Rare Diseases Clinical Trial

— FACE-Rare  

Official title:

Palliative Care Needs of Children With Rare Diseases and Their Families

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT04855734
• Other study ID #: 00008808
• Secondary ID: 1R21NR019340-01
• Status: Active, not recruiting
• Phase: N/A
• Start date: July 6, 2021
• Est. completion date: December 31, 2024

Study information

• Verified date: February 2024
• Source: Children's National Research Institute
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 48
• Est. completion date: December 31, 2024
• Est. primary completion date: December 31, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Year to 99 Years

Eligibility

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.

Related Conditions & MeSH terms

• Rare Diseases

Intervention

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].

Locations

Country	Name	City	State
United States	Children's National Hospital	Washington	District of Columbia

Sponsors (4)

Lead Sponsor	Collaborator
Children's National Research Institute	National Institute of Nursing Research (NINR), National Institutes of Health (NIH), Respecting Choices

Country where clinical trial is conducted

United States, 

References & Publications (9)

- 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

- 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'

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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.

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Satisfaction Questionnaire	Study-specific process measure to assess adverse events and benefit/burden of participation. 12 items. Possible scores range from 13-65, where higher scores indicate greater satisfaction with study participation.	Up to 5 Weeks Post-Baseline
Other	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
Other	Quality of Communication Questionnaire	Process measure to assess how participating families rated the interviewer's quality of communication and overall discussion. 5 items. 5 point Likert scale. Possible scores range from 0-25, where higher scores indicate better perception of communication.	Up to 5 Weeks Post-Baseline
Primary	Beck Anxiety Inventory	Quality of life: emotional health. 21 items. Higher scores mean more depressive symptoms. Total score will be used in analysis. Scores range from 0-63.	Change from Baseline Anxiety at 3 Months Post-Enrollment
Primary	Functional Assessment of Chronic Illness Therapy (FACIT)- Spiritual Well-Being Scale, version 4	Quality of life: spiritual (meaning/purpose, peace). Is culturally sensitive to those with non-theistic beliefs. 23 items. Total Score will be used in analysis. Higher scores mean higher spirituality. Scores range from 0-115.	Change from Baseline Spiritual Well-Being at 3 Months Post-Enrollment
Primary	Advance Care Document for Children with Rare Diseases	Advanced Care Planning (ACP) Documentation in Electronic Health Records (EHR) & Decisional preferences. 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 at 12 weejs Post-Enrollment
Primary	Initiation of Palliative Care Consultations	Used to standardize child healthcare utilization from data abstraction based on retrospective medical chart review. Score will be present in EHR or absent from EHR. Evidence of consultation with the Palliative Care Team (yes/no) will count.	Change from Baseline Frequency at 12 weejs Post-Enrollment
Primary	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
Primary	Hospitalizations	Used to standardize child healthcare utilization from data abstraction based on retrospective medical chart review. Score is recorded number of inpatient hospital admissions for clinical treatment. Minimum value is 0 with no maximum. Higher score indicates higher level of healthcare utilization.	Change from Baseline Frequency at 12 weeks Post-Enrollment
Primary	Emergency Department (ED) Visits	Used to standardize child healthcare utilization from data abstraction based on retrospective medical chart review. Score is reported number of ED visits. Minimum value is 0 with no maximum. Higher score indicates higher level of healthcare utilization.	Change from Baseline Frequency at 12 weeks Post-Enrollment
Primary	Intensive Care Unit (ICU) Use	Used to standardize child healthcare utilization from data abstraction based on retrospective medical chart review. Score is number of times the patient was admitted to the ICU (including the NICU and PICU). Minimum value is 0 with no maximum. Higher score indicates higher level of healthcare utilization.	Change from Baseline Frequency at 12 weeks Post-Enrollment
Primary	Surgeries	Used to standardize child healthcare utilization from data abstraction based on retrospective medical chart review. Score is number of surgical procedures the patient has undergone. Minimum value is 0 with no maximum. Higher score indicates higher level of healthcare utilization.	Change from Baseline Frequency at 12 weeks Post-Enrollment
Primary	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	Brief-Multidimensional Measure of Religion and Spirituality	Religious Coping: 5 items from our previous research: attend religious services, feel God's presence, pray privately, identify as religious, identify as spiritual. 5 items scored on 5-point likert-scale. Range of scores from 0-25. Higher scores indicate higher levels of religiousness/spirituality.	Change from Baseline Religiousness/Spirituality at 12 weeks Post-Enrollment
Secondary	Family Appraisal of Caregiving Questionnaire for Palliative Care	Caregiver appraisal: caregiver strain, positive caregiving appraisals, caregiver distress, family well-being in past two weeks. 25 items. 5 point Likert scale. Scores range from 0-125. Two scales are reversed scored to yield higher total score equals higher positive family appraisal of caregiving. We will also examine subscale scores--higher scores indicate higher level of that construct.	Change from Baseline Appraisal of Caregiving at 12 weeks Post-Enrollment

External 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.