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

Gianluigi Forloni, Mauro Tettamanti, Ugo Lucca, Yasmin Albanese, Elena Quaglio, Roberto Chiesa, Alessandra Erbetta, Flavio Villani, Veronica Redaelli, Fabrizio Tagliavini, Vladimiro Artuso, Ignazio Roiter

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)75-79
Number of pages5
JournalPrion
Volume9
Issue number2
DOIs
Publication statusPublished - Jan 1 2015

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Keywords

  • Doxycycline
  • Neurodegeneration
  • Preventive treatment in FFI
  • Prion’s diseases
  • Trial

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology
  • Infectious Diseases
  • Cellular and Molecular Neuroscience

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