Palliative Care Needs of Children With Rare Diseases and Their Families

This study is looking at how to better support families caring for children with rare diseases, especially when it comes to making important medical decisions for their child's future. It's testing an intervention called FACE-Rare, which is a family-centered pediatric palliative care program. You might be able to join if you are a caregiver for a child between 1 and 18 years old who has a rare disease (like Trisomy 13 Syndrome or CHARGE Syndrome) and cannot make their own medical decisions. The study wants to see if FACE-Rare improves caregivers' quality of life and how often their child uses healthcare services. We don't know yet if the study is actively recruiting participants.

Study design
This study is an interventional trial planning to enroll 480 participants. Participants will be randomly assigned to either the 3-session FACE-Rare intervention or enhanced 'Treatment as Usual'.
What's involved
Participants will have their caregiving experiences and spiritual well-being measured at the start of the study, and then again at 3, 6, and 12 months after the intervention. The study also tracks if an advance care plan for the child is in their electronic health record at the beginning and after one year.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for 12 months after the intervention.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06938542

Palliative Care Needs of Children With Rare Diseases and Their Families

Enrolling by Invitation
NAAges 12–99InterventionalSupportive care
Children's National Research Institute
~480 participants
Updated 2026-01-28 on ClinicalTrials.gov
What's tested:Family Centered pediatric palliative care for family caregivers of children with rare diseases.

At a glance

Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Family Appraisal of Caregiving for Palliative Care (FACQ-PC)
Measured over Baseline, 3-, 6-, and 12 month post-intervention
+10 more outcomes measured
Trisomy 13 Syndrome
Arthrogryposis Congenita Multiplex With Intestinal Atresia
Asparagine Synthetase Deficiency
CHARGE Syndrome
Early Infantile Epileptic Encephalopathy
FOXG1 Syndrome
KBG Syndrome
Noonan Syndrome
Severe Hemophilia A
Short Bowel Syndrome
Beta-Propeller Protein-Associated Neurodegeneration
Brain Injury of Prematurity With Periventricular Leukomalacia
Chromosome 17p13.3 Microdeletion Syndrome
Chromosome 1q43-1q44 Deletion
Cockayne Syndrome
Congenital Diaphragmatic Hernia
End-Stage Renal Disease With Cloacal Anomaly
Mitochondrial Depletion Disorder
Severe Factor VII Deficiency

NCT06938542

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Children's National Hospital

    Washington D.C., District of Columbiano site contact published

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

  • Maureen E Lyon, PhD · PRINCIPAL_INVESTIGATOR · Children's National Research Institute

This trial hasn't published a contact. View it on ClinicalTrials.gov

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Eligibility criteria

Inclusion

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

Exclusion

Family caregiver or support person is actively homicidal, suicidal, or psychotic at the time of enrollment.
  • Family Appraisal of Caregiving for Palliative Care (FACQ-PC)Baseline, 3-, 6-, and 12 month post-intervention

    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.

  • Functional Assessment of Chronic Illness Therapy-Spirituality-12 Version 4 Expanded (FACIT-Sp-EX)Baseline, 3-, 6-, and 12 month post-intervention

    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.

  • Advance Care Plan for Child with Rare Disease Located in the Electronic Health Record (EHR).Baseline and 1 year

    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.

  • Child Healthcare Utilization: initiation of palliative care consultationsBaseline, 3-, 6-, 12-month.

    Using a standardized data abstraction form to count initiation of palliative care consultations during the study.

  • Generalized Anxiety Disorder-7 (GAD-7)Baseline, 3-, 6-, 12-month

    Quality of life indicator with respect to emotional health-anxiety symptoms. 7 items. Higher scores indicate greater anxiety.

  • Patient Health Questionaire-9 (PHQ-9)Baseline, 3-, 6-, 12-month

    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.

  • Child Healthcare Utilization: # of days in palliative care before death.Baseline, 3-, 6-, 12-month

    Using a standardized data abstraction form to count # of days in palliative care before death.

  • Child Healthcare Utilization: # of hospitalizations during study participationBaseline, 3-, 6-, 12-month

    Using a standardized data abstraction form to count # of days hospitalized during the study.

  • Child Healthcare Utilization: # of Emergency Department visits during study participationBaseline, 3-, 6-, 12-month

    Using a standardized data abstraction form to count # of days used Emergency Department during study.

  • Child Healthcare Utilization: # of days in the Intensive Care Unit (ICU)Baseline, 3-, 6-, 12-month

    Using a standardized data abstraction form to count # of days was admitted to ICU during the study.

  • Child Healthcare Utilization: # of surgeriesBaseline, 3-, 6-, 12-month

    Using a standardized data abstraction form to count # of surgeries during the study.