Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases

• Published in: Prion Vol. 9; no. 2; pp. 75 - 79
• Main Authors: Forloni, Gianluigi, Tettamanti, Mauro, Lucca, Ugo, Albanese, Yasmin, Quaglio, Elena, Chiesa, Roberto, Erbetta, Alessandra, Villani, Flavio, Redaelli, Veronica, Tagliavini, Fabrizio, Artuso, Vladimiro, Roiter, Ignazio
• Format: Journal Article
• Language: English
• Published: United States Taylor & Francis 04.03.2015
• Subjects: Adult; Clinical Trials as Topic; doxycycline; Doxycycline - therapeutic use; Humans; Insomnia, Fatal Familial - drug therapy; Insomnia, Fatal Familial - genetics; Insomnia, Fatal Familial - prevention & control; Middle Aged; neurodegeneration; preventive treatment in FFI; Prion's diseases; trial; View; neurodegeneration; preventive treatment in FFI; doxycycline; Prion's diseases; trial
• ISSN: 1933-6896; 1933-690X; 1933-690X
• DOI: 10.1080/19336896.2015.1027857

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.