Neurogenetic conditions in Aotearoa

In September 2022, two New Zealand patients became the first in the world to participate in a phase 1 clinical trial testing a new therapy for a rare neurogenetic condition called myotonic dystrophy. Claire Concannon learns about the trial, and how a new Neurogenetic Registry and Biobank covering 70 conditions is helping to connect New Zealand patients with international research.

Our genes control part of our makeup. And we know that variations in different genes can impact whether we are more susceptible to get certain diseases - cancer say, or dementia. This can include multiple different genes and can be tricky to untangle.

But for some people cause and effect are more of a straight line. For neurogenetic conditions, a variation in just one gene results in neurological symptoms - affecting the brain, nervous system or muscles.

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Neurogenetic conditions are the focus of Associate Professor Richard Roxburgh's research at the Neurogenetics Research Clinic at the University of Auckland. Also a practicing neurologist at Auckland hospital, he has seen hundreds of patients that suffer from these diseases.

Being able to give a diagnosis can be a big help for patients, he says. Because these are genetic based and passed down from generation to generation, patients will often have witnessed other family members experience the same symptoms and disease progression.

'Neurogenetic conditions' is an umbrella term covering conditions like Huntington's disease, different muscular dystrophies, Friedreich's ataxia, spinal muscular atrophy - the list is long. They are rare conditions, each with their own underlying genetic cause and range of symptoms and severity.

Their rarity makes them difficult to study, and to develop effective therapies for. Which is why, Miriam Rodrigues, acting on the request of patients, set up a New Zealand Neurogenetic Registry. Now called Pūnaha Io, the registry, and associated biobank, covers around 70 different conditions, with approximately 1300 registered patients out of an estimated 4000 in the country.

It was this registry, and associated research, that attracted the attention of a US based company Dyne Therapeutics. Dyne were scouting for suitable locations for a phase 1 clinical trial into their therapy aimed at helping those with a condition called myotonic dystrophy.

Two New Zealand patients were the first people in the world to take part in this trial in September 2022. …

Go to this episode on rnz.co.nz for more details