A young Kiwi patient has become the first in the world to be treated with a revolutionary new gene therapy. 

The University of Auckland neurologist leading the trial – targeting a rare and disabling hereditary disorder with a gene-silencing drug – has likened the young man to “the first person to go to the moon”. 

It’s one of the latest instances of ground-breaking gene therapies, an approach that treats or prevents diseases by correcting the underlying genetic problem that causes them, being trialed in New Zealand. 

Its target is facioscapulohumeral muscular dystrophy (FSHD), which is estimated to affect around one in 8000 people and causes weakness in muscles. 

The drug ARO-DUX4, made by US therapeutics company Arrowhead, targets muscle cells and silences expression of the DUX4 gene, which causes havoc in the bodies of people with FSHD. 

“What we’re attempting to do is the job which the body is supposed to be doing by trying to suppress the expression of the DUX4 gene,” explained the trial’s principal investigator, Associate Professor Richard Roxburgh. 

“Because it is a genetic treatment, it is only possible to test the drug on someone who has that particular genetic disorder.” 

The young man, who can’t be identified for confidentiality reasons, was among 16 patients receiving a single low dose of the drug, or a placebo. 

Four groups of four patients will be trialled on increasing doses, ensuring each dose is safe before going to the next one. 

These patients will be monitored for 90 days for adverse events. 

If there are no reactions, a larger, year-long randomised-controlled New Zealand-based trial will get under way, with more to follow. 

Associate Professor Richard Roxburgh is leading the trial. 

“They really are brave in taking on the study,” Roxburgh said of the first group of patients, “but they already have to face decisions that others without the disease don’t have to make, on a daily basis”. 

It comes as researchers report promising early results from another pioneering gene therapy trial - this time targeting the neuromuscular disease myotonic dystrophy. 

The University of Auckland-led trial has so far found Dyne Therapeutics’ (the company running the trial) genetic therapy was helping patients with the condition, estimated to affect around 300 Kiwis. 

“It looks like it is really working and doing what we had hoped for,” Roxburgh said. 

“The patients are stronger and, most importantly, the underlying disease mechanism is being corrected, and the higher the dose, the more it is being corrected.” 

The drug company was making plans for a final, larger trial with the goal of the drug going to market in the next few years. 

The New Zealand Neurogenetic Registry and Biobank, which helps contact and recruit patients, along with the university’s expertise and links with patient advocacy groups and research partners, made Aotearoa an idea place to test the new therapies. 

“These therapies are treating genetic disorders that have a huge impact on people’s lives,” Roxburgh said. 

“They don’t get the attention the likes of cancer therapies get, possibly because of the small numbers of people involved. 

“But for these patients, the treatments are life-changing.” 

The university is set to join a further trial of a genetic therapy this year, Avidity, which is in the stages immediately preceding FDA approval to go to market. 

These new genetic treatments were facilitated by research and technology developments worldwide that are transforming treatment of genetic diseases, Roxburgh said. 

“It’s exciting, because the therapies target the specific gene that is causing the disease, which is why we get so few off-target effects,” he said. 

“It’s as significant as having antibiotics versus not having antibiotics.” 

Jamie Morton is a specialist in science and environmental reporting. He joined the Herald in 2011 and writes about everything from conservation and climate change to natural hazards and new technology. 

- NZ Herald