I spent this past Friday and Saturday with folks at the biennial meeting of the Immune Deficiency Foundation (IDF) in New Orleans, which drew more than 1,300 patients and family members, interested clinicians, and pharmaceutical industry sponsors. Along with a few other parents and interested physicians, founder and current president Marcia Boyle and her husband John launched IDF 35 years ago after their son, John, was diagnosed with an immunodeficiency disorder. An immunodeficiency disorder occurs when part of the body’s immune system is missing or functions improperly, resulting in an increased vulnerability to infections.

Today, this remarkable organization provides educational and support services for patients with one of more than 250 conditions classified as primary immunodeficiencies via a remarkably informative website and a variety of events and materials.  Educational services for physicians are a big focus as well. 

IDF has developed and makes available an electronic personal health record (ePHR) that is currently used by more than 1,600 patients. The ePHR (www.idfephr.org) allows persons with immune deficiency disorders to store their clinical information securely and efficiently so that it’s always at hand when seeing a new clinician or in an emergency. That’s impressive. But something even more exciting is going on.

When an individual signs up for the ePHR, he or she also is invited to join PI Connect, one of the 18 Patient-Powered Research Networks (PPRNs) funded by PCORI as part of PCORnet, the National Patient-Centered Clinical Research Network. About two-thirds of the ePHR users accept this invitation, which lets them share their electronic data with researchers and other patients for the purposes of participating in research that they themselves help to plan and conduct. 

PPRNs are based on the premise that patients, their caregivers, and their clinicians often have research questions that have not been studied, and that PCORnet is an infrastructure well-suited to addressing these practical, real-world questions.  PI Connect links interested patients with primary immunodeficiency disorders to raise those research questions, see the questions asked by others, and participate in planning and conducting research. 

What patient-driven research looks like

In one memorable session at the IDF meeting titled PI Connect Live!, I saw this concept in action.  Dr. Kate Sullivan, principal investigator of PI Connect, along with several of its patient and clinician leaders, met with nearly 100 PI patients and family members. Four questions that had been discussed extensively by patients on PI Connect were considered in depth, with presentations summarizing the online dialog, comments by an immunologist, and open discussion.  The questions were:

  1. Possible new uses of stem cell transplants, especially in the context of common variable immunodeficiency in adults: what are the risks and benefits, and who is more likely to benefit?
  2. Alternative methods of delivery of immunoglobulins – intravenous and subcutaneous administration are the typical approaches.  Both appear to be effective, but individual patients differ, especially in terms of preferences.  In special situations, oral or topical administration may also be of benefit.  When and for whom is not well known.
  3. Recognizing fever in patients with PI – patients online had noted that they often run a “normal” temperature that is one to two degrees below 98.6. So when an infection occurs, their temperatures may rise, but only to 98-99, causing clinicians to dismiss the idea that their symptoms are infection-related.  When asked, 80 percent of the patients in the room agreed they had lower body temperatures, and that this had been a problem for them when interacting with physicians. Amazingly, the clinician specialists hadn’t heard this before and agreed that if this could be demonstrated, it would be very important to publish and disseminate. Those in the room then began designing a study that could be conducted within PI Connect and might settle this important question.
  4. The role of antibiotics to prevent infections in patients with immunodeficiencies was also of great interest. When are they helpful?  If used, should they be rotated to avoid development of resistant organisms? The clinicians agreed that the answers to these questions were not known for most conditions and, in fact, variation in practices was apparent among the physicians in the room.

Research questions were flying around the room for more than an hour. Most, though not all, were comparative effectiveness questions like those PCORI was established to help answer. We left convinced by what we’d seen and heard that patients who live the experience of an illness do indeed encounter questions unappreciated by others that deserve to be studied.

So I congratulate the IDF, its leadership, and all of its members. I was inspired by the sense of family and community I witnessed and by the keen interest of patients in contributing to research – for themselves and for future patients.  I know that there are many patient organizations like the IDF and am grateful that PCORI gets to join with so many of them in supporting patient-centered outcomes research.

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