We learned recently of the ongoing Early Diagnosis of Prion Disease clinical study at UCSF.  In a call earlier this week we learned a bit more than is on the study website, so we thought we’d share.  A few key points to start off: it’s free to patients, though travel to SF isn’t funded; the test take two days, and they are encouraging people to come in more than once– some people apparently go every year and others every several years.  The tests you get are as follows:

  • Two MRIs at 1 hr each (magnets, not radiation, for those who don’t know)
  • A detailed history and physical, about 2 hours
  • an EEG at 1.5 hrs
  • Motor testing
  • Cognitive testing (brain teasers and the like), about 2 hours
  • Blood draw
  • Skin biopsy (for possible future iPSC)
  • Lumbar puncture

There is no ultimatum about the tests, though– for instance if you’re not comfortable with the lumbar puncture you can forgo it and still participate in the other testing.

This testing is useful stuff– a couple of people have pointed out that if you’re a hypochondriac, getting baseline testing done can help calm your nerves later on.  i.e. if you start to think you’re losing your memory or reflexes or something, you can get testing done again and confirm that you’re the same as you ever were, that your thalamus hasn’t shrunk in the MRI, and so on.

About 45 people participate each year, most of which are sporadic, symptomatic CJD patients, but the study is open to GSS and FFI patients as well.  About a third of the participants have been genetic cases, and a third of those have been pre-symptomatic.  They’re particularly interested in pre-symptomatic cases due to the early diagnosis theme of the study.

Contact <cjdstudies@memory.ucsf.edu> to participate.

In our call we also got to hear a bit of what Geschwind and Prusiner’s labs are doing in terms of therapeutics.  Evidently they’ve got about 10 small molecules they are working on, all of which started out as FDA-approved drugs and have now spent enough (read: any) time in chemists’ hands being optimized for blood-brain barrier permeability and so on that they’ll still need to go through the whole FDA process again before being on the market.  They’ve only been tried in mouse cell culture so far and will still need to spend their due time in live mice, so any human clinical trials are still several years off.