Read with caution!
This post was written during early stages of trying to understand a complex scientific problem, and we didn't get everything right. The original author no longer endorses the content of this post. It is being left online for historical reasons, but read at your own risk.
This video is of a talk by Gianluigi Forloni entitled “Doxycycline trials in CJD and FFI,” given on July 9th, 2011 at the annual CJD Foundation Family Conference.
The majority of his talk focuses on doxycycline trials in mice and humans infected with CJD. All of the data from the human trials are based on administration of doxycycline after onset of clinical symptoms. Under these conditions, doxycycline roughly doubled post-onset survival time, with some variation based on genotype and gender.
At time stamp 16:56, a new chapter of the video begins entitled “Fatal familial insomnia: preventative treatment with doxycycline in risk individuals.” Here Dr. Forlioni discusses his timeline and experimental design for a new trial looking at preventative treatment for FFI using doxycycline in pre-symptomatic carriers. The participants come from a large Italian family that carries the D178N-128M mutation. All family members between the ages of 40 and 52 have agreed to participate on a double-blind basis, without knowing their own status. (As a side note, what an amazing family. I am blown away.) Of the 30 participating individuals, 11 are carriers and 19 are non-carriers of the mutation. Carriers will receive 100mg of doxycycline per day, and non-carriers will receive a placebo. Partipants will undergo a physical and neurological exam every two years including neuropsychological assessment, autonomic nervous system assessment, polysomnographic EEG recording/actigraphy, 3T MRI and FDG-PET.
Number of participants: 30
Start of treatment: July 2011
End of observation: June 2022
Primary efficacy variable: If more than 50% of the FFI carriers are without clinical disease after 10 years (in 2022), doxycycline will have been shown to have a significantly therapeutic effect.
Dr. Forloni is the Head of the Neuroscience Department and of the Laboratory of Biology of Neurodegenerative Disorders (BND) at the Mario Negri Institute in Milan. Here’s a link to his Mario Negri bio page: http://www.marionegri.it/mn/en/sezioni/istituto/storia/biografie/forloni.html