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ABSTRACT
Engaging patients as partners in biomedical research has gradually gained consensus over the last two decades. They provide a different perspective on health priorities and help to improve design and outcomes of clinical studies. This paper describes the relationship established between scientists and members of a large family at genetic risk of very rare lethal disease, fatal familial insomnia (FFI). This interaction led to a clinical trial based on the repurposing of doxycycline – an antibiotic with a known safety profile and optimal blood–brain barrier passage – which in numerous preclinical and clinical studies had given evidence of its potential therapeutic effect in neurodegenerative disorders, including prion diseases like FFI. The design of this trial posed several challenges, which were addressed jointly by the scientists and the FFI family. Potential participants excluded the possibility of being informed of their own FFI genotype; thus, the trial design had to include both carriers of the FFI mutation (10 subjects), and non-carriers (15 subjects), who were given placebo. Periodic clinical controls were performed on both groups by blinded examiners. The lack of surrogate outcome measures of treatment efficacy has required to compare the incidence of the disease in the treated group with a historical dataset during 10 years of observation. The trial is expected to end in 2023. Regardless of the clinical outcome, it will provide worthwhile knowledge on the disease. It also offers an important example of public engagement and collaboration to improve the quality of clinical science.
Acknowledgments
We thank all participants in the study DOXIFF and their relatives, the Executive Council of AFIFF, Fondazione Telethon for funding (projects # GGP10208; GSP14001; GSP18001; GSP21002). We thank J.D. Baggott for the language editing.
Disclosure statement
No potential conflict of interest was reported by the authors.
Consent to participate
Informed consent was obtained from all individual participants included in the study.
Ethics approval
The trial protocol (DOXIFF) of the study was reported in The National Monitoring Centre on Clinical Trials (OsSC) operating under the control of the Italian Medicines Agency (Eudra CT 2010-02223328) and approved by local Ethics Committees of Ulss 2 Marca Trevigiana Ca’ Foncello Hospital, Treviso and Fondazione IRCCS Istituto Neurologico ”Carlo Besta”.