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Journal paper advises caution among clinicians in communicating the potential benefits and timelines for ocular gene therapy

Commentary from a research paper published in the American Journal of Ophthalmology has cautioned clinicians to be both realistic and hopeful in their communications with patients seeking information on retinal gene therapy. In particular, the paper, published by researchers at the School of Public Health and the Department of Ophthalmology and Visual Sciences, University of Alberta, Canada, advises that “Clinicians should be prepared to counter overly optimistic messaging, especially that found in news media and on the Internet, with optimism tempered by evidence”. Acknowledging the importance of hope for patients and their families in dealing with diminishing sight and potential blindness, the recommendations highlight the view that “hope both supports and is supported by disease management”.


The research paper highlighted many of the promising gene therapy studies conducted in both animal and human subjects and recognises the almost two dozen ocular gene therapy trials currently registered with the registry. However, the researchers pointed out the often over-enthusiastic reporting of gene therapy treatments in several media outlets. According to the publication, such overly positive news stories often fail to balance articles with the reality of what gene therapies can actually achieve (treatment rather than a cure) and how long the road may be between discovering a genetic mutation behind a particular disorder and having a gene therapy available to treat such a disease in the clinic. Armed with such media reports patients and their families are increasingly likely to seek information from clinicians on such novel therapies and what trials might be available for them to participate in, including compassionate use programs available in a number of jurisdictions.


The paper provided a number of recommendations for clinicians to manage communications with patients to ensure that the reality of what is available is informed by the evidence and balanced with hope for the future prospects in a rapidly changing field. The recommendations include advice on highlighting that research is not the same as treatment and patients and families should always be referred to credible sources of information such as the Foundation Fighting Blindness website. Clinical trials should be emphasized as experimental and therefore not risk free. While many trials have shown positive safety profiles, the researchers advised that risks will always remain including (theoretical) oncogenic risks from insertional mutagenesis, severe immune response, surgical complications, infections, loss of remaining vision and several others. The paper additionally pointed out that adverse events reported in studies to date included macular hole, foveal thinning and retinal detachment, not to mention potential financial burdens and psychological stress. Finally, the published advice includes a recommendation to clearly inform patients and families that translating therapeutic opportunities into clinical reality inevitably involves a very long and winding road. The researchers cautioned that, “gene therapy has been hailed as 5 years away from clinical application since the 1990s”’ yet no gene therapy has yet been approved in the United States and only one has received authorization in the EU. In respect of LCA the authors of the paper highlight the RPE65 story as more indicative of the future path: the RPE65 mutation was identified in 1997 while the first Phase I/II human trials did not get underway until 2007. Current Phase III study results are expected by the end of 2015 however, it could be 2016 at the very earliest before a product would be available. Consequently, 20 years is closer to the current actual timeline although there is hope that these timelines will condense as experience and success grows.