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12 | InTouch APRIL 2022 At the CBR Neurogenetic Clinic at the University of Auckland we’re eagerly anticipating the waning of the current Omicron wave so that we can start inviting people with myotonic dystrophy to participate in END-DM1! Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) is the flagship study of the Myotonic Dystrophy Clinical Research Network and seeks to overcome insufficient information on the natural history of myotonic dystrophy, the lack of reliable biomarkers as well as the incomplete characterisation and limited understanding of the different ways myotonic dystrophy can affect people. Those of you who receive newsletters from the Myotonic Foundation* will have seen the warmwelcome given to Associate Professor Richard Roxburgh as the newest Principal Investigator to this important international collaboration. Interest in participating in END-DM1 is high and we’ve even been contacted by Australian families willing to come to Aotearoa to take part. Information about participating in the study will be sent out through Pūnaha Io – the Neuro-Genetic Registry & BioBank (formerly the NZ NMD Registry). A new study brings with it the opportunity to welcome new staff to the team at the CBR Neurogenetic Clinic. We’re delighted to announce Michelle Liddicut (pictured) as END- DM1’s Clinical Evaluator. Michelle graduated fromThe University of Melbourne (Australia) with a Bachelor of Physiotherapy (Honours) in 1999 and has specialised in treating patients with neurological conditions since 2002. She has worked in Melbourne, Australia, the United Kingdom and New Zealand and has held positions in both the public and private sectors spanning the full range of the patients’experience, from the neurological intensive care unit to inpatient, outpatient and community rehabilitation settings. Most recently Michelle worked in London at a specialist neurological hospital where she worked in the Multiple Sclerosis Services and Disorders Centre for Neuromuscular disorders. One of the exciting aspects of running a study like END-DM1 is that it puts us squarely in the sights of pharma looking for places to run their clinical trials. The ease of recruitment provided by Pūnaha Io – the Neuro-Genetic Registry & BioBank is valued. We’re currently working with Arrowhead on starting up a phase 2 trial of ARO-DUX4 in facioscapulohumeral muscular dystrophy, and Dyne Therapeutics with their early phase molecular treatment DYNE-101 for myotonic dystrophy type 1. The Registry also enrols children with neuromuscular conditions and recent examples of enquiries include those for Duchenne muscular dystrophy and congenital myotonic dystrophy. Advances in the world of treating mitochondrial myopathies has the CBR Neurogenetic Clinic currently enrolling people from throughout New Zealand with alterations in their mitochondrial genome to participate in Reneo Pharmaceutical’s STRIDE study. It’s anticipated that REN001 could benefit people with genetic mitochondrial myopathies who experience weakness, fatigue, cramping and wasting of muscle due to the mitochondria’s inability to produce adequate levels of ATP. Stealth Bio Therapeutics is investigating elamipretide in people whose mitochondrial myopathy is caused by changes in genes in nuclear DNA, such as POLG1. Earlier studies suggest that this drug improves mitochondrial function. We hope to offer participation in a phase 3 clinical trial for this soon. In the next issue we’ll share with you our work in spinal muscular atrophy (SMA) as well as future dates for online condition-specific workshops. RESEARCH University of Auckland will be inviting people to participate in END-DM1 study. Update from CBR’s Neurogenetic Clinic * We recommend you sign up to Myotonic Foundation’s newsletters – they provide a wealth of information about living with myotonic dystrophy including invitations to free webinars. Michelle is a graduate of The University of Melbourne with a Bachelor of Physiotherapy.