We hope this strange and unprecedented year finds you and yours healthy and well.
At this difficult moment, we’re writing with a different sort of mid-year update than in the recent past. With the COVID-19 pandemic impacting everyone in so many different ways, we aren’t writing to fundraise. We’ll be back in December with an end-of-year fundraiser for Prion Alliance. But for now, we just wanted to take a moment to share some updates and reasons for optimism.
When we last wrote at the end of 2019, we shared some recent publications presenting data from our natural history, biomarker and mouse studies. We can now share two more new research studies. One is a second, more detailed study showing the power of prion protein-lowering therapy: among other findings, repeated treatment is able to triple the survival time of prion-infected animals. The other is a large-scale genomic analysis evaluating genes as drug targets, that finds, among other things, support for targeting the prion protein gene and its products to treat prion disease.
We also have a different flavor of reading material to share. As we often find ourselves saying these days, data supporting your therapeutic compound and drug target are essential — but they aren’t enough. To shepherd a drug through the full arc of development, you need a much larger plan that bridges the lab and the real world in which your drug will be tested in people, evaluated by regulators, and hopefully, ultimately, taken to save lives. To that end, we’ve been fortunate to be able to share the big picture of how we’re thinking about prevention of prion disease, and how this vision is informed by our perspective as patient-scientists, in scientific journals (here and here) as well as in Scientific American.
As we shared in this blog post, we’ve been relatively lucky during the ongoing COVID crisis. Our key long-term animal experiments were able to continue, and our partners at Ionis Pharmaceuticals have reported that their commitment is unwavering and that they are full steam ahead on bringing a prion disease drug into the clinic. A subset of our lab activities were on pause for the past couple of months but are now beginning to gradually re-start. Long story short, we’re adapting as best we can, and blessed to have incredible allies helping us keep the most important work on track.
Finally, on a personal note, Eric and I are so fortunate to be able to share that on March 20, 2020, we welcomed a new baby boy, Kavari Minikel Vallabh. Like his big sister Daruka, Kavari followed a long road into our arms: he was born through IVF-PGD to help to ensure that he would not inherit my genetic prion disease mutation. At sixteen weeks, Kavari is healthy, growing almost unnervingly quickly, and teaching himself, through diligent trial and error, how to smile. To marvel at his progress, every day, is to be reminded how much is possible.
Take care, be healthy and safe, and thank you.
Sonia and Eric
PDF articles ©2020 Massachusetts Medical Society and ©2020 Scientific American are reproduced with permission; original articles are available at New England Journal of Medicine and Scientific American.