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 language | English |
|---|---|
| Pages (from-to) | 75-79 |
| Number of pages | 5 |
| Journal | Prion |
| Volume | 9 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 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
Cite this
Preventive study in subjects at risk of fatal familial insomnia : Innovative approach to rare diseases. / Forloni, Gianluigi; Tettamanti, Mauro; Lucca, Ugo; Albanese, Yasmin; Quaglio, Elena; Chiesa, Roberto; Erbetta, Alessandra; Villani, Flavio; Redaelli, Veronica; Tagliavini, Fabrizio; Artuso, Vladimiro; Roiter, Ignazio.
In: Prion, Vol. 9, No. 2, 01.01.2015, p. 75-79.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Preventive study in subjects at risk of fatal familial insomnia
T2 - Innovative approach to rare diseases
AU - Forloni, Gianluigi
AU - Tettamanti, Mauro
AU - Lucca, Ugo
AU - Albanese, Yasmin
AU - Quaglio, Elena
AU - Chiesa, Roberto
AU - Erbetta, Alessandra
AU - Villani, Flavio
AU - Redaelli, Veronica
AU - Tagliavini, Fabrizio
AU - Artuso, Vladimiro
AU - Roiter, Ignazio
PY - 2015/1/1
Y1 - 2015/1/1
N2 - 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.
AB - 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.
KW - Doxycycline
KW - Neurodegeneration
KW - Preventive treatment in FFI
KW - Prion’s diseases
KW - Trial
UR - http://www.scopus.com/inward/record.url?scp=84944450004&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84944450004&partnerID=8YFLogxK
U2 - 10.1080/19336896.2015.1027857
DO - 10.1080/19336896.2015.1027857
M3 - Article
VL - 9
SP - 75
EP - 79
JO - Prion
JF - Prion
SN - 1933-6896
IS - 2
ER -