DOCUMENT
Headlines 13 the ventricular enlargement seen in untreated affected sheep. Bringing a gene therapy to the clinic is not speedy or cheap. These proof- of-concept translational studies would not have been possible without the support of the Neurological Foundation ($630,000 over 20 years), and grants from Cure Kids NZ; the Canterbury Medical Research Foundation; Neurogene Inc; American, Australian, UK and New Zealand Batten Disease Research and Support groups; and the US National Institutes of Health. Last year CLN5 gene therapy was granted orphan drug status by the US Food and Drug Administration (FDA). We are now in the Investigational New Drug-enabling phase with Neurogene Inc, USA, preparing the final documentation for FDA regulatory permission to begin the first human CLN5 gene therapy clinical trial. If granted, this will be the first clinical trial to treat both the brain and eye in Batten disease. Ongoing trials at Lincoln are investigating the safety and efficacy of the human CLN5 gene in affected sheep as well as possible longer-term implications of this successful one-off treatment in case there is a need for long-term follow-up treatment. The Lincoln University Animal Ethics Committee provides oversight of all University activities in accordance with the Animal Welfare Act. See: neurological.org.nz/research/ethics- and-research I am a biochemist who became a Molecular Pathologist. After a BSc (Hons) at Canterbury I did an MSc in Toronto then worked as a research assistant in Biochemistry at University College London. My interest in Batten disease began at Massey in 1980, where I did my PhD and continued at Lincoln from 1994 into my retirement last year when Nadia Mitchell took over leadership of the programme. I am a neuroscientist, my key area of research being pre-clinical studies in sheep. I completed my PhD with David at Lincoln University in 2016, focussing on longitudinal in vivo monitoring of disease progression and gene therapies in sheep with Batten disease and continued these translational studies through postdoctoral positions at the University of Otago (Christchurch). In 2021, I returned to a lectureship position at Lincoln University and now lead the research group there. Emeritus Professor David Palmer Dr Nadia Mitchell We wish to also acknowledge the large cohort of co-workers, students, colleagues and collaborators in NZ, Australia, Canada, US, UK, France, Germany and Finland who also contributed to this work.
RkJQdWJsaXNoZXIy NjA0NA==