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Perspectives from young adults with Leber congenital amaurosis (LCA) show complex factors when considering gene therapy and trial participation

A research study conducted in the Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Canada has shown that there are a range of complex factors in play in respect of gene therapy treatments for inherited retinal dystrophies. This current study was focused on a database of >100 patients with a clinical diagnosis of LCA.  Luxturna, a recent novel gene therapy treatment for RPE-65 was approved in the US, EMA and Canada Health, and now hoping to collect further Phase IV data over the coming years.  To investigate patients’ expectations on LCA treatment, the recent Canadian study assessed young adults’ decision-making processes and gene therapy-related concerns with a small cohort.


Results of the study participants were aware of ongoing gene therapy research trials and actively sought information regarding advances in ophthalmology and vision restoration. The majority of participants would enrol or were enrolled in a gene-replacement therapy trial, while a minority was ambivalent or would not enrol if provided an opportunity. Participants attributed different values to clinical trials, which influenced their willingness to participate. Intrinsic factors related to coping, adaptation to vision loss and resilience also influenced decision-making.  The qualitative analysis identified three major themes and subsequent sub-themes in their report including: (1) Meaningful Vision; (2) Participating in Gene Therapy Clinical Trials, (2.1) Expectations, (2.2) Motivations and Barriers; and (3) Personal Factors, (3.1) Upbringing/Environment, (3.2) Self-Esteem, (3.3) Self- Acceptance, (3.4) Coping.


As reported from the study, many respondents indicated that meaningful vision was not limited to one specific parameter. While some participants (4) indicated “that ‘being able to read or see print, even if it required the use of assistive devices’ would be meaningful, another individual wanted the independence and ability to read without using assistive devices as this takes a longer time”.  A brief summary table showed their responses, even though the small population was n=10.

In addition, a number of the responses had very sophisticated knowledge and appreciation of the issues which included very key assessments of the technologies, including comments such as: “A primary motivation was the belief or hope of experiencing an improvement in their vision. Some individuals would be more inclined to participate if they knew someone who enrolled and reported a positive experience with gene therapy; this individual should be of comparable age and gender and share a similar life experience with the participant”.


In commenting on the paper, the authors had also stated, “[f]or some individuals, trust came with knowledge. Some participants wanted to conduct their own research about a therapy, while others were more inclined to participate if their ophthalmologist administered the gene therapy or after speaking to someone who had been in a trial and reported a positive experience, trusting the account of others. The trust towards the patient’s ophthalmologist highlights the importance of keeping the community of eye care providers educated and informed about treatment opportunities”.