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David

David Mackey AO

Year of Award: 2015 Award State: Western Australia Health And Medicine > Diseases, Disorders And Syndromes
The Kevin Bell Churchill Fellowship to evaluate recruitment, treatment and monitoring of patients having gene therapy for Inherited Retinal Diseases - UK
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Major Lessons and Conclusions 

Inherited Retinal Diseases (IRD) have overtaken diabetes as the leading cause of blindness in working-age adults in the UK and probably also in Australia. At present, over 200 genes are implicated in the various subtypes of IRD. Although predictive genetic testing is possible to prevent some cases of IRD, a large number of individuals are going blind from these conditions. Adeno-Associated Virus (AAV) delivery of gene therapy has proven safe in several IRDs and has been shown to be effective in delaying progression of Leber Congenital Amaurosis. Further gene therapy trials are now underway in the UK for choroideremia and X-linked Retinitis Pigmentosa (RP), with numerous other gene trials planned. Much of this work has been funded by NHS-England and the Wellcome Trust and its spin-off company Nightstar. At present, trials underway are restricted to patients from the UK. Ironically, much of the research is being conducted by Australian fellows and PhD students, including several Rhodes scholars. Unless an Australian patient has UK residency, then it is not possible for him or her to participate. Given the large number of Australian patients with IRDs, particularly choroideremia and X-linked RP, there is a need to create an opportunity for these patients to participate in trials. While we do not have the resources to set up our own trials in Australia for every different IRD, we do have the ability to conduct this work. Indeed, one large AAV trial for treating age-related macular degeneration was conducted in Australia. We have a national registry of IRDs but our patients are distributed across the country.With the return of several Oxford-trained ophthalmology fellows to Australia, we aim to set up an Australian arm for phase 3 trials of gene therapy. Prior to this, we will conduct a natural history study to determine the number of available patients and our ability to monitor them, a major prerequisite for any trial. We are now in discussion with Nightstar about a RPGR X-linked RP study.


Awards and Honours

  • 2019 awarded Officer of the Order of Australia for distinguished service to medicine, and to medical education, in the field of ophthalmology, as a clinician-scientist and academic.
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