Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement.

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.

Tratamento da miíase humana cavitária com ivermectina oral / Treatment of human cavitary myiasis with oral ivermectin

Introdução: Miíase humana é uma ocorrência relativamente comum e, no mínimo, constrangedora, quer seja para os pacientes ou para o médico que o atende. É bem mais freqüente nos países subdesenvolvidos e tropicais, mas há casos descritos em todas as regiões do Planeta. Normalmente, afeta pacientes doentes, idosos e deficientes mentais, mas pode ocorrer em pacientes tróficos e saudáveis. As larvas depositam seus ovos em tecidos doentes e necróticos, mas podem fazê-lo em zonas do corpo aparentemente sãs. Seu tratamento consiste na catação das larvas, um processo desagradável e doloroso, muitas vezes impossível em regiões cavitárias. Alguns produtos foram usados no sentido de facilitar esse procedimento, sem grandes resultados. Forma de estudo: Prospectivo randomizado. Método: Neste trabalho, foi feito, em sete pacientes, o tratamento da miíase cavitária humana com ivermectina oral (até 300 æg/kg), medicamento já usado para o tratamento de outras doenças. Os pacientes foram submetidos a provas de função hepática e renal pré e pós-tratamento, e acompanhados clinicamente. Resultados: Todos os pacientes tiveram as larvas eliminadas; e nenhuma anormalidade, nos exames.