title: Preventive study in subjects at risk of fatal familial insomnia: Innovative approach to rare diseases.
abstract: 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.
authors.affiliation: a Department of Neuroscience, IRCCS, Istituto di Ricerche Farmacologiche "Mario Negri" Milano , Milano , Italy ;
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Forloni
authors.forename: Mauro
authors.initials: M
authors.lastname: Tettamanti
authors.forename: Ugo
authors.initials: U
authors.lastname: Lucca
authors.forename: Yasmin
authors.initials: Y
authors.lastname: Albanese
authors.forename: Elena
authors.initials: E
authors.lastname: Quaglio
authors.forename: Roberto
authors.initials: R
authors.lastname: Chiesa
authors.forename: Alessandra
authors.initials: A
authors.lastname: Erbetta
authors.forename: Flavio
authors.initials: F
authors.lastname: Villani
authors.forename: Veronica
authors.initials: V
authors.lastname: Redaelli
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Tagliavini
authors.forename: Vladimiro
authors.initials: V
authors.lastname: Artuso
authors.forename: Ignazio
authors.initials: I
authors.lastname: Roiter
mesh_terms: D000328:Adult; D002986:Clinical Trials as Topic; D004318:Doxycycline / Q000627:therapeutic use; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000188:drug therapy / Q000235:genetics / Q000517:prevention & control; D008875:Middle Aged
chemical_list: D004318:Doxycycline
keywords: Prion's diseases; doxycycline; neurodegeneration; preventive treatment in FFI; trial