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Access to medicines, especially for people with rare diseases, is a contentious issue. The day following the Budget announcements the NZ Herald ran a story “ Pharmac funding ‘kick in the guts ’” because despite Pharmac receiving an additional $191 million over the next two years it’s not even half of what’s required to clear Pharmac’s wait list of 78 medicines that it wants to buy but doesn’t have enough money for. For an individual with a rare disease one way to avoid the injustice of not being able to access a medicine that patients in other countries might have, is to participate in a clinical trial. This isn’t a decision to be taken lightly, but for a number of New Zealanders with Pompe Disease, for example, this is what they’ve done. The CBR Neurogenetic Clinic led by Associate Professor Richard Roxburgh is the New Zealand site for a number of clinical trials, two of which enable patients with Pompe Disease to access Amicus Therapeutic’s enzyme replacement therapies. Other clinical trials at the Neurogenetic Clinic include PTC’s Vatiquinone for Friedreich Ataxia, and Reneo Pharmaceutical’s investigational product for mitochondrial myopathy. This study, called STRIDE due to the 12-minute walking test used to assess fatigue in people with mitochondrial myopathy, is still open to recruiting new participants. Not all clinical trials are successful (this is the point of them – to test whether the new drug improves outcomes for patients), but for those that are, participants are invariably offered the opportunity to continue taking the drug on what’s known as an Open Label Extension (OLE) study. This means that regardless of whether Pharmac will fund the drug, the patient is able to access it. This is hugely positive and the reason why trials need to be supported especially by the rare disease community. At the CBR Neurogenetic clinic we’re looking forward to starting a new trial this year for people with mitochondrial myopathy caused by mutations in the nuclear (not mitochondrial) genome. This trial is for people with muscle weakness caused by alterations in genes that interact with the mitochondria such as POLG1 and TWINKLE. Recruitment for this trial will use the Neurogenetic Registry & Biobank . Excitingly, we’ve now partnered with New Zealand Clinical Research (NZCR) – leaders in early phase clinical trials. This means we’re able to announce that we’ve been selected as a site for Dyne Therapeutics DYNE1-101 in myotonic dystrophy! Looking forward to sharing more about this trial in the next issue. RESEARCH The CBR Neurogenetic Clinic is the New Zealand site for a number of clinical trials. Miriam Rodrigues, Neurogenetic Research Lead, provides an update on their latest trials. Clinical trials update – New Zealand Comfort Cough The Co fort Cough is an excellent easy to use controls. It can be set up by a clinician in auto mode, and used in the home by the patient or caregiver. breathingandmedical.co.nz | solutions@breathingandmedical.co.nz | 0800 335 333