Background: Progressive familial intrahepatic cholestasis (PFIC) is a set of rare genetic disorders related to defects in bile transport that can lead to liver failure during childhood. There are limited guidelines for the management of PFIC disorders, and organized information about the different treatment options that is accessible to all PFIC stakeholders does not exist. In addition, it is unclear how patient values, priorities and goals are incorporated into clinical decisions, and efforts to incorporate patient-driven objectives within current research agendas have been lacking.
Motivation: PFIC caregivers feel uninformed in their treatment journeys, not knowing what the best “next step” is for their children and their family. To be equal partners in clinical decision-making and research, all stakeholders need to be equipped with the necessary resources and understanding to drive this process.
Goal: The overarching goal is to build sustainable expertise and a supportive infrastructure for PFIC-specific patient-centered outcomes research/comparative clinical effectiveness research (PCOR/CER) and to identify emergent questions arising from patient experiences with different treatments and interventions that can be targeted by future PCOR/CER.
Specifically, the project team will build a network of collaborative partners and gather information regarding patients’ experience with the most prevalent treatments and interventions as well as the relevant clinical information regarding these treatments. This information will be centrally aggregated in a web-based platform in order to be readily accessible to all individual stakeholders in a user-friendly way, and easily updated to incorporate new developments. The platform will be the basis to solicit inclusive dialogue and participation from the PFIC community that will stimulate an authentic process of creating PCOR/CER questions that are truly meaningful to patients and families.
- Educate the PFIC community in PCOR/CER to provide a foundational knowledge base and establish an enduring stakeholder collaboration.
- Evaluate the engagement strategy to ensure and optimize its sustainability.
- Develop the interactive web platform.
- Collaboratively create a Roadmap that provides clear guidelines for sustainable stakeholder engagement in PCOR/CER and that establishes jointly identified research priorities.
Activities: The organizational structure of the project has three interacting layers to optimize productivity while minimizing the burden on the patient community. The project team will function as the coordination center. A clinician/researcher and a patient/caregiver focus group will be the driving force behind the development of the web platform and the roadmap, and the wider PFIC community will contribute online to the web platform and the roadmap and will provide feedback via surveys throughout the project.
In the first year of the project, the main activities will focus on establishing PCOR/CER knowledge via educational modules. Clinician/researcher and a patient/caregiver focus group will be formed to gather information regarding common treatments that will be integrated into a web platform. In the second year of the project, the focus will shift to using the platform to identify a first PCOR/CER target and develop the roadmap. Engagement assessments will be carried out in both years of the project to adapt and optimize the engagement strategy.
- Four PFIC PCOR/CER educational modules with patient/caregiver and clinician/researcher versions accessible via an online platform. These will be designed to be adaptable to other rare diseases.
- Project team; focus group facilitators and members (patients, caregivers, clinicians and researchers); and PFIC community members with knowledge of PCOR/CER and experience in multi-stakeholder research engagement.
- An interactive web platform with aggregated clinical and patient-reported information that will be used to identify PCOR/CER targets. The framework of the web platform will also be adaptable to other rare diseases.
- A five-year Roadmap to PFIC PCOR/CER for the PFIC stakeholder community.
Projected Outcomes and Outputs: At the end of the project, patients, caregivers, clinicians and researchers will have established a shared PCOR/CER knowledge base and built a foundation of guidance and resources for sustainable and collaborative research endeavors in the PFIC disease area.
Short-term outcomes during the project period include: A web-based resource to provide and collect treatment information that is interactive, informative and engaging, and that also serves to identify common questions and outcomes that are both meaningful to PFIC patients and quantifiable that can therefore be directly integrated into future CER.
Medium-term outcomes (0-2 years post-project period) include: A first PCOR/CER study in PFIC. The project team will also share experiences and resources with:
- Fellow CZI Rare As One grantees.
- Collaborating organizations in the cholestatic liver disease space, inc. Alagille’s Alliance, PSC Partners and Biliary Atresia.
- Umbrella advocacy organizations, including NORD and Global Genes.
Long-term outcomes (3+ years post-project period) include: The first PFIC PCOR/CER study to be completed, evaluated and shared with all PFIC stakeholders. Patients will be involved in every stage of research and have improved access to research results. The project team will update the web app to include the PCOR/CER study results and any potential new treatment options that can then be used to identify new PCOR/CER targets.
Patient and Stakeholder Engagement Plan: PFIC patients, caregivers, clinicians and researchers will participate jointly in the learning/feedback modules from PCORI’s Research Fundamentals adapted by PARTNER in the focus groups, and individually online motivated through PN media campaigns. Stakeholders will also complete Patient Engagement Evaluation Tool assessments. Engagement activities will culminate in developing the interactive web platform and defining a collaborative and sustainable engagement strategy in the roadmap.