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In a pair of posts on and , Ó³»­´«Ã½ researchers Sonia Vallabh and Eric Minikel have announced the launch of the , an online registry for patients with or people at risk for prion diseases who want to participate in research related to this family of rare but devastating neurological conditions.

As Minikel explained , the registry represents an effort by a coalition of prion disease advocacy groups — the CJD Foundation, the CJD International Support Alliance, and the Prion Alliance — to fill an unmet need: a centralized way for those who want to participate in prion disease research to make their voices heard, and in the process, support clinical research on these conditions:

By launching Prion Registry, we aim to solve a few problems at once:

• Help patients find research studies to participate in. Every week, Sonia and I get email from people who want to know how they can help and how they can volunteer for research. Prion Registry allows people to find research studies they can volunteer for.
• Help researchers recruit participants. Recruiting enough participants can be the hardest part of launching a clinical research study, especially in a rare disease like prion disease. Prion Registry allows researchers to help reach people who want to volunteer.
• Lay the groundwork for future clinical trials. We’ll never get a drug for prion disease without a clinical trial and, as noted above, recruiting participants can be a hard part of any study, including a clinical trial.

, Vallabh discussed how the registry addresses one of the major hurdles to basic, preclinical, and clinical research on prion disease:

As we’ve come to appreciate the massive effort that goes into running a clinical trial, we’ve realized something scary: if someone launched a trial for an experimental prion disease drug today, there would be no simple way to find and contact all of the patients or people at risk who might be interested in signing up to take the drug. Even more concerning, this difficulty could have a chilling effect upstream, on the numerous collaborators and funders needed to even get to the point where we have a drug to test. Right now we would have a lot of trouble demonstrating to these sorts of partners that if we were to run a trial there would be enough people out there interested in enrolling. And this could scare people off from funding a study or developing a drug in the first place.

Seeing these gaps motivated us to band together with the other patient groups to design a simple, secure online tool to try to address them. We conceived of an online registry, open to anyone in the world. We settled on a patient-centric model, where patients or people at risk manage their own profile, and can view studies and choose to contact researchers if they are interested in joining. We designed a simple, 10-minute medical questionnaire making it easy for patients to sign up and provide basic information on themselves. And we decided to make this resource available to any researcher with appropriate ethical approval to do a study on human subjects. But importantly, participants’ names and contact information are not available through the registry.

Vallabh tested positive for the mutation that causes familial fatal insomnia (a form of prion disease) in 2011, soon after she and Minikel married. Despite having no background in science, the couple quickly dedicated themselves to understanding the biology of prion diseases, which arise from the buildup of a misfolded protein in the brain, and working towards a cure. Both are now graduate students in core institute member Stuart Schreiber’s laboratory and founders of the Prion Alliance.

The Prion Registry is built on the Ó³»­´«Ã½ Data Sciences Platform’s Data Donation Platform, which provides the backbone for a growing number of patient-driven research projects, including the , the , and the .