Citizen Participation in Rare Disease Research. It’s Rare.

In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. There may be as many as 7,000 rare diseases. The total number of Americans living with a rare disease is estimated at between 25-30 million. That’s around 8% of the population.

Patient participation in rare disease research, both wet and dry (in a lab with benches and with computers) is, frankly, rare. Of course, patients are subjects of research, but that’s not the kind of participation I’m talking about. I’m referring to patient involvement in 1) setting priorities, 2) study leadership and design, 3) improved access to clinical trials, 4) preparation and oversight of the information provided to participants, 5) post-study evaluation of the patient experience, and 6) the dissemination and application of results.

The Patient-Centered Outcomes Research Institute (PCORI) has funded 28 comparative effectiveness studies that help patients and those who care for them make better-informed decisions about their options for treating rare diseases. But this again is not participation at the lab level.

I was invited to meet with a team from Pandion Therapeutics at Lab Central in Cambridge, MA, to talk about patient participation. I redirected the conversation to Citizen Participation by Citizen Experts, that includes patient participation in clinical studies (often called subjects). Here’s Casey Quinlan on Citizen Participation in Clinical Research. I was asked by the CEO, What is the single most effective recommendation I would make to further citizen participation in clinical research? I told him we needed to start with him. Top down, bottom up. His values and direction models a lab and company culture to deliberately including citizen experts before, during, and after the study.  Also, hiring citizen experts with lab and start-up skills for bench jobs and leadership positions. He took it well. We spent some time on using citizen experts to inform their networks about the study and recruit a diverse population of experiment participants. After the study is complete citizen experts can communicate and disseminate results to their personal and social networks. Several staff members were already familiar with citizen participation.

After the meeting with Pandion, I participated in a rare disease panel with several people with rare diseases skilled in startups and funding. The conversation was mostly about funding. Next opportunity like this, I’m going to have to draw a more clear line between citizen participation and major funding. Perhaps lobbying for public support for rare disease research.

Collaborating with sister disease-specific advocacy groups to pool research funding support rather than fragmenting the effort. Citizen participants can improve the difficult and expense recruitment and retention of experiment participants, especially for small population studies. Hmm, what else?

Photo by Blaque X on Unsplash

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Danny van Leeuwen

About Danny van Leeuwen

Patient/Caregiver activist empowering people as they travel toward best health

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