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20 | InTouch SPRING 2023 Whilst the implications for this project were initially unclear it has become apparent that we are now in a better position to progress the genetic testing of these individuals, regardless of where in the country they reside. • We concentrated our efforts on these 23 patients during this recent round of NRFT funding. • Of the 10 patients with complete records, we were instrumental in facilitating the recommended genetic testing in 5 of these patients, who remain undiagnosed and were therefore consented to our Finding the Gene study. • Five remaining patients still have incomplete genetic testing and we have contacted their neurologists directly and advised on appropriate testing. • From July 1st 2022 the District Health Board structure changed to one entity, Te Whatu Ora. Whilst the implications for this project were initially unclear it has become apparent that we are now in a better position to progress the genetic testing of these individuals, regardless of where in the country they reside. • Furthermore, we noted that the 5 patients who had received incomplete genetic testing, 4 appeared not to have received basic electrophysiological testing, and 2 had no CK measurements. The neurologist of each of these patients was contacted directly to advise on testing. • Of the 13 patients with incomplete clinical information AND no molecular diagnosis, we have chased up all available clinical information and made contact with their individual neurologists. We can confirm that 5 now have a molecular diagnosis, 1 has had panel testing, which proved uninformative, 1 has testing underway, 4 have had partial genetic testing. • The one patient who has completed clinical genetic testing has been contacted to start the consent process for the Finding the Gene study. • We are following up with the remaining 4 patients and their neurologists to facilitate their complete genetic testing. Summary and future work: • There was no influence of age, gender or ethnicity on the diagnostic process. • For those still awaiting diagnoses, most lived outside of Auckland and identified the main barrier was poor access to tertiary health services and genetic testing. Many had been told by their GPs that because they had an untreatable muscular dystrophy, there was no therapeutic advantage in getting further testing • In addition to the 63 LGMD patients that Dr. Avroneel Ghosh identified from the Pūnaha Io registry in 2021, we have enrolled a further 15 patients with LGMD. We are continuing to obtain clinical records to follow up with these patients. A final progress report will be published in the next issue of In Touch magazine. Associate Professor Richard Roxburgh, Miriam Rodrigues and Dr Christina Buchanan. Neurogenetics Research Clinic TAKE YOUR LIFE TO THE NEXT LEVEL EXPERIENCE THAT LASTS A LIFETIME www.dofehillary.org.nz facebook.com/dukeofednz RESEARCH NEWS