Earlier this month we had the opportunity to attend the 2013 CJD Family Foundation Conference in Washington, D.C.  Hats off to Florence Kranitz and everyone else at CJD Foundation for organizing an excellent event.

First and foremost, it was a great chance to meet people.  Thanks to all the other families we met who shared their stories.  It can feel like we’re alone in this day-to-day, and meeting everyone was a wonderful reminder that the cause we’re working for is much bigger than ourselves.  By the way – among the folks we met was Trevor Baierl, who’s making a documentary about his family’s experience with CJD and his process of getting tested for the mutation – good luck, Trevor!

We also got to meet personally with several researchers and hear the latest updates and challenges.  A couple of the research presentations focused on diagnosis of prion diseases in human patients.  This is a huge challenge and will need to improve in order for clinical trials of any new treatments to be successful, because at present diagnoses are not made until disease is very advanced.  Michael Geschwind pointed out that at present, 2/3 of the disease course – time from first symptom to death – is lost just reaching the correct diagnosis [Paterson 2012 (ft)], leaving precious little time for intervention.  Alberto Bizzi’s research presentation covered diagnostic methods using MRI, and Byron Caughey discussed a new technique called RT-QuIC which can amplify prions in cerebrospinal fluid.  There’s little doubt that MRI is an improvement over the 14-3-3 protein test for sporadic CJD [Geschwind 2003 (ft), Young 2005 (ft), Vitali 2011], but Bizzi’s data suggest that the diagnosis of more obscure prion diseases – including fatal familial insomnia and VPSPr – remain more challenging.  There are high hopes for RT-QuIC, which is just beginning to reach the clinic – apparently it has almost 100% sensitivity even for GSS, FFI and genetic forms of CJD [Sano 2013].

Simon Mead also flew in from London to present a great deal of research that has gone into preparing for future clinical trials in the U.K., including a sneak peek at MRC Prion Unit’s vision for a possible new clinical trial of an antibody against PrP.  He began by observing that, though it’s easy to measure survival time in prion diseases, increasing survival isn’t an ideal goal in clinical trials because it doesn’t mean much without improvements in quality of life.  Toward that end, he introduced a rating scale for functional decline in prion disease which his group has developed for use in future clinical trials.  In addition to better reflecting what patients and families want, this tool will also help to give more statistically meaningful results if MRC decides to pursue an open label clinical trial.  Open label means that all patients who enroll are treated, rather than 50% being assigned to a placebo group.  The risk of open label trials is that only the healthier patients want to enroll, which makes it difficult to compare them to historic data on untreated patients.  But by measuring the rate of disease progression rather than survival time, the new rating scale can still give more meaningful results.

There were several other good talks as well.  Paul Brown gave a highly entertaining history of the early days of prion research from scrapie through the discovery that kuru and CJD were transmissible.  (By the way, another excellent narrative of this history can be had in The Family That Couldn’t Sleep).  Bob Will discussed prion surveillance in the U.K. and argued for continued vigilance while reminding us that the risk of transmission is very low. Addressing concerns about transmission of CJD between people [presumably referring to Brown 1998Hillier & Salmon 2000 (ft), Capellari 2008] Dr. Will stated that there has never been a confirmed case of human-to-human transmission of prion disease.

Above all the conference was about people.  We were so impressed at the strength of all the families coping with prion disease, and at the commitment of researchers to moving science forward.  We’re all in this together!