Preventive study in subjects at risk of fatal familial insomnia: Innovative
approach to rare diseases.
Author(s): Forloni G(1), Tettamanti M, Lucca U, Albanese Y, Quaglio E, Chiesa R, Erbetta A,
Villani F, Redaelli V, Tagliavini F, Artuso V, Roiter I.
Affiliation(s): Author information:
(1)a Department of Neuroscience, IRCCS, Istituto di Ricerche Farmacologiche
"Mario Negri" Milano , Milano , Italy ;
Publication date & source: 2015, Prion. , 9(2):75-9
The text describes a preventive clinical trial with drug treatment in a very rare
neurodegenerative disease (Fatal familial Insomnia, FFI) designed with the help
of individuals at genetic risk of developing the disease, asymptomatic carriers,
who have agreed to be exposed over a 10-year period to doxycycline, an antibiotic
with anti-prion activity. At least 10 carriers of the FFI mutation over 42 y old
will be treated with doxycycline (100 mg/die) and the incidence of the disease
will be compared to that of an historical dataset. For ethical reasons a
randomized, double-blind, placebo-controlled trial was not feasible, however the
study design and the statistical analysis ensure the scientific value of the
results. This approach might represent an important breakthrough in terms of
potential therapy and knowledge of rare diseases that could give some hopes to
these neglected patients.
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