PCORI's Focus on Rare Diseases: Progress over the Past Year

Today we join organizations around the world in recognizing Rare Disease Day to raise awareness of uncommon diseases, their impact on the lives of patients and their families, and the need for research to find and improve treatment options. Among the goals of Rare Disease Day are to strengthen the voice of patients and patient advocacy groups, provide information, promote access to care, and highlight the search for new therapeutics. Rare Disease Day was first observed in 2008 on February 29—the least common day of the year. This year, the Rare Disease Day website pays tribute to the “millions of parents, siblings, grandparents, spouses, aunts, uncles, cousins, and friends” who are living day by day, hand in hand with rare disease patients.

We take this opportunity to provide an update on the progress that PCORI has made, since our blog post on Rare Disease Day 2014, in supporting rare disease research and awareness. A rare disease is defined as a life-threatening and chronically debilitating condition that affects fewer than 200,000—that is, fewer than one in 1,500—people in the United States.

PCORI’s Advisory Panel on Rare Disease

Our authorizing legislation mandates that PCORI create an Advisory Panel on Rare Disease. This special requirement recognized that clinicians often have little experience with each of the nearly 7,000 recognized rare diseases, which overall affect 30 million—or 10 percent of—Americans. Conducting clinical research related to these conditions is especially challenging because relatively few patients are affected by each specific rare disease.

Last spring, our Advisory Panel on Rare Disease met for the first time. The 13-member panel is charged with helping us decide how to best manage our comparative clinical effectiveness research (CER) portfolio on these diseases. It also advises us on the needs and concerns of the rare disease community and identifies opportunities for PCORI to collaborate with that community. The panel includes patients, caregivers, and representatives of rare disease advocacy groups, as well as clinicians, researchers, staff members from pharmaceutical companies, and a representative of an insurer.

In the past 10 months, the Advisory Panel on Rare Disease has:

• Recommended a review of past and current standards for CER on rare diseases
  • The panel identified an initial focus on foundational issues—such as minimum datasets, data standards and other issues related to rare disease registries (ownership of data, legacy issues, sustainability, access to data, IRB issues), and appropriate CER methods and questions.
  • PCORI contracted a review on standards for rare disease research to provide the panel with a solid starting point for drafting formal guidance documents.
• Collaborated with PCORnet
  • The panel received a presentation by the leaders of the Rare Disease Task Force of PCORnet, a PCORI-funded national patient-centered clinical research network. This Task Force is charged with supporting PCORnet’s 29 component networks in identifying populations, developing research priorities, and designing and implementing studies for rare diseases. Rare diseases are well represented in PCORnet; one or more rare diseases are the focus of half of the 18 Patient-Powered Research Networks, which are operated and governed by groups of patients and their partners. In addition, each of the 11 Clinical Data Research Networks, which are networks originating in hospitals, health plans, and other healthcare systems, has selected a specific rare disease and is developing methods for identifying and characterizing it, as well as recruiting patients.
  • The panel drafted a list of recommendations for the PCORnet task force.
• Collaborated with PCORI’s Advisory Panel on Assessment of Prevention, Diagnosis, and Treatment Options
  • Last fall, two members of the Advisory Panel on Rare Disease served as topic experts for a discussion on genetic testing for rare diseases led by our Advisory Panel on Assessment of Prevention, Diagnosis, and Treatment Options.
  • The Advisory Panel on Rare Disease attended the discussion, which considered the effectiveness of genetic testing for select rare diseases in terms of patient care, treatment choices, and relevant clinical and patient-centered outcomes. Unlike the Advisory Panel on Rare Diseases, the Advisory Panel on Assessment of Prevention, Diagnosis, and Treatment Options prioritizes comparative research topics according to our criteria for research prioritization to guide our decisions on which topics to include as research priorities or submit to our Board of Governors for consideration for topic-specific funding announcements.
• Provided input and expertise on individual funded rare disease projects
  • The panel discussed potential processes to implement its legislative mandate to assist in the design of rare disease research studies and determine the relative value and feasibility of conducting them.
  • It recommended that PCORI create a pool of experts to address staff questions related to monitoring funded projects for research on rare disease.

PCORI Calls for Rare Disease Research Proposals

Since last year, the number of rare disease studies in our research portfolio has doubled, and the funded studies address more rare diseases. Below we list the rare disease projects funded during the past year.

We have also made two awards under our Eugene Washington PCORI Engagement Awards initiative that relate to rare diseases. One of them seeks to build the readiness capacity of individuals living with sickle cell disease throughout Tennessee for participating in patient-centered outcomes research (PCOR) and obtaining a population-based representation for PCOR-focused initiatives. The other aims to develop training of interest and value to a diverse group of PCOR/CER stakeholders, on community partnership in research focusing on the unique needs of rare and/or genetic conditions. These awards encourage active integration of patients, caregivers, clinicians, and other healthcare stakeholders as integral members of the research process.

Our blog post last year lists eight previously funded studies on rare diseases and the rare diseases being studied by our PCORnet networks. We also have funded two rare disease projects in our Pipeline to Proposal Award program, which is helping build a national community of patients, researchers, and other stakeholders ready to participate in patient-centered CER and encourages partnerships that lead to high-quality proposals. One of these projects addresses obesity in Latino adolescents with spina bifida, and the other promotes a patient-centered research community for cystic fibrosis.

We plan to grow our portfolio further. To demonstrate our commitment to research on rare disease, we announced on February 4 a special pool of funding, $12 million, for studies that focus on rare diseases. We also held a webinar to inform the rare disease community about these funds. We hope this announcement will encourage researchers to partner and engage with rare disease patients and submit proposals for funding.

Rare Disease Research Studies Funded in the Past Year through Broad PFA(s)