RESUMEN
The life shortening nature of Friedreich Ataxia (FRDA) demands the search for therapies that can delay, stop or reverse its relentless trajectory. This review provides a contemporary position of drug and gene therapies for FRDA currently in phase 1 clinical trials and beyond. Despite significant scientific advances in the specificity of both compounds and targets developed and investigated, challenges remain for the advancement of treatments in a limited recruitment population. Currently therapies focus on reducing oxidative stress and improving mitochondrial function, modulating frataxin controlled metabolic pathways and gene replacement and editing. Approval of omaveloxolone, the first treatment for individuals with FRDA aged 16 years and over, has created much excitement for both those living with FRDA and those that care for them. The process of approval of omaveloxolone by the US Food and Drug Administration highlighted the importance of sensitive outcome measures and the significant role of data from natural history studies.
RESUMEN
Scientists and pharmaceutical companies are working toward delivering gene therapy (GT) for Friedreich ataxia (FRDA). Understanding the views of people with lived experience of FRDA and their parents toward GT is essential to inform trial design and identify potential barriers to participation in clinical trials. The goals of this study were to identify the attitudes toward GT held by individuals with FRDA and parents of individuals with FRDA, and to explore how these may impact future trials for this condition. Audiorecorded, semistructured, qualitative interviews with 19 Australians explored experiences of FRDA, knowledge about clinical trials, views on GT, including risks and benefits, and potential barriers to participation in trials. Participants included thirteen individuals living with FRDA aged between 15-43 years, and six parents of children with FRDA aged 4-12 years of age. Thematic analysis of the interviews identified six main themes. Findings from this study indicate there is strong desire for information regarding GT in FRDA, however the current level of uncertainty around GT makes decision making challenging. The desire to maintain functional status and avoid additional risk of deterioration from an investigational treatment was apparent. Importantly, neurological targets were identified as preferred for GT trials. Further research is required to identify if attitudes and perceptions differ according to geographical location and disease stage.