How Does PCORI Define Rare Disease? 

PCORI utilizes the National Institutes of Health's definition of a rare disease. A rare disease is defined as a condition that affects less than 200,000 people in the United States. 

Does PCORI Have a Special Interest in any Rare Disease Subcategories (e.g., Acquired Adult Diseases or Inherited Pediatric Diseases)? 

PCORI is interested in clinical comparative effectiveness research (CER) studies for both pediatric and adult rare diseases. We encourage you to routinely check our funding opportunities for any specific areas of interest that may develop. 

Does PCORI Offer Funding Opportunities to Support a Pre-Existing Rare Disease Registry, or the Development of a Rare Disease Registry? 

The development of a rare disease registry may meet the requirement for PCORI funding if it is a component of a research study aimed to answer CER or enhance patient-centered outcomes research methods. 

Details on available funding can be found on our Funding Opportunities Webpage.

Does PCORI Only Fund Projects That Have a Broad Impact? Would PCORI Consider Research in a Rare Disease to Have a Broad Impact? 

PCORI funds research that is projected to make a significant impact on those affected by the target disease or condition.  PCORI has recently affirmed the importance of rare disease research and set Addressing Rare Diseases as one of eight approved topic themes for upcoming research funding:

What Does PCORI Consider Sufficient Evidence of Efficacy for Rare Diseases? 

The requirement for demonstrating evidence of efficacy for proposed interventions in rare diseases is similar to the requirement for common diseases. The intervention(s) should have been previously studied and represent a realistic choice for patients and clinicians. However, if the existing evidence base regarding the intervention(s) for rare diseases is limited, it may be acceptable to show evidence of efficacy for a particular intervention in a different disease where some theoretical and/or biological propositions on such linkage have been developed. In these instances, the investigator should justify how the available evidence would be applicable to the rare disease of interest. 

Does PCORI Fund Projects Regarding Newborn Screening or Treatment Options for Rare Diseases? 

PCORI does not fund studies that propose to develop a new screening tool or establish efficacy for a treatment option for any disease. However, if there is a patient-centered CER question related to screening or treatment options for patients with rare disease, it may be of interest to PCORI. The investigator is encouraged to speak with a Program Officer regarding their idea(s) prior to submitting a Letter of Intent. To contact PCORI regarding a research idea, please email [email protected]

Can Projects Include Stakeholders from the International Rare Disease Community? 

PCORI is interested in research projects with a clear benefit to the U.S. healthcare system. Any project funded through PCORI needs to show that the evidence generated is applicable to the U.S. population. International stakeholders may be included in projects; however, the investigator should demonstrate how their participation is of benefit to the project. 

Does PCORI Have Suggestions for How to Facilitate Studies Given the Smaller Patient Populations for Rare Diseases? 

Achieving an adequate sample size can be a challenge for research in many rare diseases. The solution will differ for each study and depends on the research question. Some options may include leveraging existing patient networks or cohorts or considering a cluster trial design, if feasible. 

Does PCORI Have Different Criteria Against Which Rare Disease Applications Are Evaluated? 

PCORI generally applies the same evaluation criteria to review all research applications. However, we understand that existing evidence regarding interventions for rare diseases is often limited. In articulating the clinical decision dilemma, investigators must describe the existing evidence on the proposed interventions, even if the data are limited. If the data have not been published, investigators should describe why they are not, as well as any plans for the public release of the data. In some instances, PCORI may consider applications that involve interventions with limited evidence if the application compares two or more interventions that are currently being used in medical practice to treat patients with a given rare disease. Please note that applicants will need to document and address the limitations and risks of using minimal efficacy data. The criteria for each funding announcement may differ slightly and should be consulted when applying. 

Are there any Rare Diseases Projects that use PCORnet®? 

PCORnet is a national resource, funded by PCORI, where high- quality health data, patient partnership, and research expertise deliver fast, trustworthy answers that advance health outcomes. 

PCORI has funded seven studies that use PCORnet to study rare diseases;, a full list of projects can be found here.  

More information on PCORnet is available at  Applicants interested in engaging with PCORnet and using the resources available through PCORnet are encouraged to contact the PCORnet® Front Door as soon as possible, ideally before Letter of Interest submission, to learn more and explore opportunities to use PCORnet resources. 

Would Studies Evaluating Food and Drug Administration Safety Profiles and Affordability of Orphan Drugs Be of Interest to PCORI? 

This question has two elements: safety and affordability. Affordability is potentially of interest to PCORI. It would depend on any specific scope of a cycle of funding, but affordability does fall within PCORI’s mandate to consider the full range of clinical and patient-centered outcomes, including the potential burdens and economic impacts. Safety per se is not within the scope of research that PCORI funds and would be considered non-responsive. If drug safety were considered in terms of patient-centered clinical or economic outcomes, as with affordability, it potentially would be of interest to PCORI, depending on any specific scope of a cycle of funding.  

Posted: September 1, 2023

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