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Patient Centered – Rare Disease Led

The Patient Centered Outcomes Research Institute (PCORI)’s federally mandated Rare Disease Advisory Panel (RDAP) has been an incredible opportunity. For the last three (3) years I have served on the panel, and for the last year as Co-Chair. It is inspiring to see how much the PCORI staff truly appreciates and desires to hear the voice of the patient-researcher-stakeholder community and how much our input does impact their work.  

This was my last meeting on the panel, and it is bittersweet to rotate off. It is important for others to have a voice and a say on the panel, and I feel blessed to be able to bring histiocytic disorders and the Histiocytosis Association to the forefront of the conversation for the last few years.   

You will see in the recap below, that the conversations had impact all rare disease, and therefore histiocytosis. The meetings are public, so if you’d like to listen in and learn more about PCORI and the RDAP, you can tune into past meetings or join another in the future. Following is a recap of the discussions we had – the sessions were presentations by PCORI staff and then the discussions were the panel providing input on the work and funding opportunities within PCORI!  

I hope to remain involved with PCORI in the future as an ambassador, to help bring awareness for histiocytic disorders and to remain informed of the great work and opportunities PCORI offers for rare diseases. 

  1. General Program Updates 
    • Preannouncement for Rare Diseases, funding announcement opens May 7 (NOW OPEN!) 
      • Applicant townhall on May 14, with LOI due in June 
      • Three special areas of emphasis: approaches to symptom management, timely diagnosis, and care delivery, but investigator-initiated Letters of Interests also welcome 
    • Addressed other PCORI Activities and Initiatives where rare diseases were addressed 
    • Learned more about Research Fundamentals, a free online resource to help people better understand the healthcare research process. 
      • Now being translated into Spanish 
  1. Engagement in Research: PCORI’s Foundational Expectations for Partnership 
    • PCORI’s building blocks for meaningful and effective ways to engage with patients, communities, and other partners in research 
    • Replaces the 2014 Engagement Rubric and builds upon 10 years of evidence and experiences of PCORI awardees 
    • Discussion on recommendations for how PCORI can best disseminate the guidance 
      • Highlight this at the Annual PCORI Meeting as a priority for PCORI  
      • Partner with disease-specific organizations to host trainings for researchers and community members 
      • Publish in journals  
    • How we can help spread the word about the Foundational Expectations within the larger research community: 
      • Provide more concrete guidance to researchers and other stakeholders, including sharing example of awarded projects 
      • Find ways to engage patient-stakeholders to train on how to advocate and build confidence so that more voices can be heard 
  1. CEDS AP and RDAP Collaborative Session on Managing Pain 
    • Overview presentation on Developing the Managing Pain Topic Theme 
    • Opportunities for comparative effectiveness research (CER):  
      • Pain in women related to endometriosis and/or pregnancy  
      • Topical medications for pain management 
      • How to best measure pain in a way that meets patient outcomes 
      • Implementation of well-known treatments that aren’t being used 
      • Non-pharmacologic interventions  
      • Neonatal & nonverbal children 
      • Personalized medicine – address patient/preferences/modalities/challenges 
    • Address Inequities in care:  
      • Research needs to include social determinants of health not just demographics 
      • Attitudes and beliefs around pain – biopsychosocial view; race, ethnicity, and gender can play a role 
      • Recruitment of under-represented groups in research – how the past influences participation in research; can people who have participated in the past speak to the experience to aid recruitment 
    • What is important to measure: 
      • Difference in levels of pain; different types of pain 
      • People who have chronic pain, may not know how to measure their pain because they are so used to feeling a specific way 
      • Caregiver burden – stress, impact on marriage, divorce rate, sense of meaning and purpose, etc., – measure mental health intervention & support systems 
    • Outreach Strategies: 
      • Look at who is not participating in studies and seek to include them 
      • Outreach to more nonprofits or agencies that could co-lead research 
        1. Webinars/conference presentations by PCORI – raise awareness of PCORI with organizations. 
        2. Would be helpful to have information on barriers to organizations applying for PCORI grants 
  1. PCORnet Overview 
    • PCORnet supports national-scale studies designed to help people make better informed healthcare decisions.   
    • Common Data Model (CDM) – data is research ready at the national scale. 
    • Learned about the process of requesting a network query through ‘The Front Door’ 
      • Can aid study design and feasibility, sites for recruitment, use the CDM for identification of potential participants for prospective data collection, has expertise in decentralized trials, real-world data, and many resources. 
    • Data is transformed to the Common Data Model – can look across orgs to identify patients with a specific diagnosis code, or computable phenotypes. 
    • Discussion: 
      • Are there specific venues or approaches to share the word that would be beneficial? How can we make PCORnet Front Door resource better known? More accessible?  
        • Collaborate with patient advocacy groups, healthcare organizations, and research institutions to promote the Front Door resource and encourage its use. 
        • Highlight success stories and case studies that demonstrate the impact of PCORnet Front Door on advancing patient-centered outcomes research. 
        • Share testimonials from researchers, patients, and healthcare organizations that have benefited from using the Front Door resource. 
      • Which characteristics of PCORnet should PCORI emphasize to clarify the unique features and potential advantages of using PCORnet to conduct rare disease research?  
        • Access to a broad and diverse patient population enhances the feasibility and efficiency of recruiting participants for rare disease research studies. 
        • PCORnet is flexible and adaptable to accommodate the unique characteristics and needs of rare disease research. 
  1. Valuing Rare Disease Treatment in Healthcare: Real Experience, Real Impact 
    • Presentation from Annie Kennedy and Rick Chapman 
      • Engaged patients with rare disease to identify meaningful approaches to comparative effectiveness research and value assessment to advance the understanding of patient-centered outcomes.  
        • Key recommendation domains: patient journey & time, caregiver journey, early & continuing engagement/communication, data & methods, economic impact, scientific spillovers, identifying common patient-centered outcomes 
    • Discussion: 
      • Are there themes or recommendations that require further refinement or elucidation? 
        1. Consideration for the burden of the amount of input requested of rare disease patients/families, reduce burden on clinical trial participation  
        2. Value of looking at diagnostic odyssey regardless of whether there is a treatment because often it is overlooked if there is no treatment 
        3. How to harmonize disease specific outcomes with “general” outcomes that most rare diseases share 
        4. Patient and caregiver priorities/needs are different 

For anyone interested, the 2024 PCORI Annual Meeting will be held in Washington, D.C. on October 22-23 and is free to attend. Any patient-family members interested in joining in person can apply for a travel scholarship through June 17th. 2024 PCORI Annual Meeting | PCORI