DOCUMENT

6 Headlines “We don’t have a specific treatment yet for Charcot-Marie- Tooth Type 1A, but it’s taught us a huge amount about how nerve cells work. We’re still at the stage of understanding it better.” Associate Professor Richard Roxburgh Whitney is enabled to study CMT as the inaugural recipient of the Neurological Foundation Dawn Fellowship. (Read more about the Dawn Fellowship on page 8). Whitney’s career has developed while collaborating with Associate Professor Richard Roxburgh. Dr Roxburgh has been a Consultant Neurologist at Auckland City Hospital for 20 years and an Associate Professor at the University of Auckland since 2017. In 2003, he established a Neurogenetics Clinic at Auckland City Hospital to serve the needs of patients with inherited neurological diseases. He has a particular interest in CMT because it’s one of the more common neurogenetic conditions and is potentially treatable. He’s leading a Neurological Foundation project characterising cranial nerve involvement in CMT Type 1A. “We don’t have a specific treatment yet for CMT Type 1A, but it’s taught us a huge amount about how nerve cells work. We’re still at the stage of understanding it better,” says Dr Roxburgh. He says one of the challenges of finding a treatment for CMT is that it’s slowly progressive. “It takes longer to see if a treatment is working. Clinical trials must be over a long period of time with a large number of patients.” Patients with CMT have balance issues and often trip and fall. In the past it was assumed this was because of the weakness and loss of sensation in the legs. “But no one has looked at whether the nerves running from the balance organs in the ears, to the brain, are involved.” The nerve involved with hearing and balance is the vestibulocochlear nerve, also known as cranial nerve eight (CN VIII). Dr Roxburgh leads a landmark study aiming to enrol 50 people with CMT Type 1A to test nerve conduction, strength and balance. It is about halfway through its recruitment. A team of incredible specialists has been assembled to collaborate on the study. “It’s really important for New Zealand. We are a small country. We can’t solve all these issues ourselves so we need to collaborate,” he says. Recruitment is led by Miriam Rodrigues, the curator of Pūnaha Io, the NZ Neuro-Genetic Registry and Biobank. This registry was set up in 2010 as a collaboration between Auckland City Hospital and Muscular Dystrophy NZ, for patients wishing to take part in research to register their interest. It is now generously funded by the Sir Thomas and Lady Duncan Trust and The Stern Foundation. An ultrasound expert, Dr Luciana Pelosi, will carry out the nerve conduction studies, and will use the opportunity to image the nerves in CMT. Also working on the study is audiologist Dr Rachel Taylor and PhD student ZayMelville, who currently has a Neurological Foundation O’Brien Clinical fellowship which supports non-medical health professionals to pursue research. Zay divides her time between Triton Hearing in Hamilton and researching CMT at the University of Auckland. “My goal is to bridge a gap between neurologists and audiologists,” says Zay. “I've noticed a lack of collaboration between the two fields industry-wide, yet audiology and neurology are intertwined. I’d also love to see more awareness and testing of vestibular function in audiology practices across Aotearoa New Zealand.” Patients can contact neurogenetics@adhb.govt.nz to find out about upcoming research for neurogenetic conditions. The registry also helps patients with a neurogenetic condition, but no diagnosis, to get a genetic diagnosis. Anyone who’d like to be part of Whitney’s CMT genetics study can email whitney.whitford@auckland.ac.nz .