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SPRING 2023 InTouch | 19 The Neurogenetics Research Clinic was established to advance clinical care and rehabilitation in neurogenetic disease. In 2022, the Clinic received a grant from Neuromuscular Research New Zealand to speed up the diagnostic process for LGMD patients enrolled on Pūnaha Io the New Zealand Neurogenetic registry and biobank, so they could all be trial ready. The main aims of the research project were to: • Identify patients by whether they have genetically confirmed diagnoses, and if not, identify RESEARCH NEWS The Neurogenetics Research Clinic provides a progress report on a key research project aiming to provide diagnostic closure for people with undiagnosed limb girdle muscular dystrophy (LGMD). Progress report on a key research project whether they received up-to-date testing. • If they had incomplete testing, make sure their neurologist was contacted to facilitate this. • If they had sufficient and appropriate testing but no diagnosis, ensure they could be enrolled in Finding the Gene study to possibly discover rare or unknown variants in known or newly discovered genes. Summary of progress: • In 2021, when Dr. Avroneel Ghosh undertook his audit, 63 patients on te Pūnaha Io registry reportedly had limb girdle muscular dystrophy (LGMD) • 5 are deceased, leaving 58 to investigate • 44 of these 58 have complete records, 13 had incomplete records • Of the 58, 34 had a molecular diagnosis, 24 did not have a molecular diagnosis (consisting of 10 patients with complete records, and the 13 patients with incomplete records, shown in orange in Figure 1). Fig 1. The above chart shows the summary of progress. Molecular diagnosis known N=34 Molecular diagnosis unknown N=10 Recommended clinical genetic testing complete N=5 Enrolled to FTG N=5 Recommended clinical genetic testing incomplete N=5 Molecular diagnosis unknown N=13 Molecular diagnosis known N=5 Molecular diagnosis pending N=1 Recommended clinical genetic testing complete N=1 Recommended clinical genetic testing incomplete N=4 Incomplete clinical records N=13 Pūnaha Io patients ID’d as LGMD N=63 Complete clinical records N=44 Continued over ...