Dear Prion Alliance supporters,

It is with full hearts that we write to you to share the progress we’ve made so far in 2017, and our vision for the road ahead.

First things first, we need your help. We are ambitiously aiming to get a preventive therapy for prion disease into earliest clinical trials within the next five years, and the next six months will be pivotal for our ability to meet this goal.

Here are two ways to help:

  1. Please donate to support our efforts. A donor will be matching your donations 1:1, up to $10,000, through the end of 2017. So if you’re willing and able, make a contribution via PayPal, or send a check to: Prion Alliance, PO Box 391953, Cambridge, MA 02139.

  2. Please join the Prion Registry — an online portal to match patients and people at risk to opportunities to participate in research. More on this below.

Here’s an update on what has been a very full year.

Prevention is the common thread through all our efforts right now. We set out six years ago to develop a drug to keep Sonia healthy — not just to keep her alive longer after dementia strikes. Developing a preventive drug means we need to think about prevention from square one. We can’t assume that a drug that delays or prevents prion disease would prove effective if tested in a clinical trial in already-symptomatic patients. After all, the cholesterol-lowering drugs that millions of people take can prevent heart attacks, but they don’t reverse heart attacks once they’re in progress, and evidence from prion mouse models says the same may be true of many anti-prion compounds. Developing a preventive drug means we need to think now about prevention trials. That means developing biomarkers to determine if a drug is effective, figuring out how to reach healthy mutation carriers who could enroll, and doing animal studies to test potential preventive therapies.

Toward that end, this summer, we launched a clinical research study at Massachusetts General Hospital, funded entirely by your donations to Prion Alliance. The study is bringing healthy, pre-symptomatic prion mutation carriers and controls to Boston to donate cerebrospinal fluid for research. The goal: to characterize biomarkers that we will one day use in a clinical trial of a preventive drug for prion disease. The response from the patient community has been incredible: we met the enrollment quota of 20 participants within 48 hours of announcing the study on Facebook and Twitter in July.

Over the past year, we’ve also worked with other patient organizations — CJD Foundation and CJDISA — and the Data Donation Platform here at the Broad Institute to launch the Prion Registry. This is an online portal for patients to find opportunities to participate in research — like the clinical study above — and to stand up and be counted. We won’t develop a drug without a clinical trial, and we can’t enroll a clinical trial without knowing how many people are out there who want to participate, and how we can reach them. The Prion Registry allows people to answer a quick 10-minute questionnaire, browse current opportunities to participate in research, and indicate their interest in hearing about future trials. People who are affected by prion disease, at risk, or just want to volunteer as a control are encouraged to sign up!

Meanwhile, we’ve been expanding our research effort on the home front. We now have a visiting scholar and a research scientist working with us full time in the lab, and we’ve started a mouse colony at the Broad Institute that we are using to test anti-prion therapies in vivo. And earlier this summer, we told our story to the largest audience yet in a two-part series on NPR (1, 2), emphasizing the importance of prevention.

Finally, a piece of personal news: our daughter Daruka Vallabh Minikel was born on July 23, 2017, and the three of us are doing great. Thanks to a technology called in vitro fertilization with pre-implantation genetic diagnosis (IVF/PGD), Daruka does not have Sonia’s genetic mutation. So while our fight to prevent prion disease in this generation will go on, it is comfort beyond measure to know that we’ve already prevented the disease in the next generation.

As our research operation at the Broad Institute grows and intensifies, we need your help to make it all possible. Please donate to support our efforts, and cast your vote in favor of a preventive drug in our lifetime.


Sonia & Eric