Gene-editing treatment gives hope to sufferers of rare condition

Sat, Mar 4

A life-saving gene editing treatment trial has had life changing results, curing sufferers of a condition that causes unpredictable cases of swelling.

About 100 New Zealanders have the condition and seven of them have been at the forefront of the trial.

For generations, pain has been passed down through the Knox family, starting with a beloved grandfather.

“[He had] terrible periods of vomiting and that's what I remember of him,” granddaughter Judy Knox told 1News.

An uncle, her mother and her son all lived with hereditary angioedema, a condition that causes severe swelling.

At worst the pain is comparable to childbirth or a heart attack and it can be lethal if closes the airway.

But an Auckland University trial has produced incredible results.

Of the seven people who took part, at varying rates, all the patients had their flare-ups disappear.

A faulty gene is responsible for producing a protein responsible for the swelling but with the CRISPR/CAS9 treatment, genetic material is infused into a ball of fat which targets that gene.

Auckland University’s Dr Hilary Longhurst says it’s within their grasp to cure the condition.

“That genetic material will bind very, very specifically onto the gene that's responsible for the angioedema and will snip that gene and when that happens that gene is repaired naturally,” she told 1News.

“So, the effect of the treatment is that the body can't make the protein.”

It means freedom from an array of drugs, some of them at a cost of up to $1500 dollars.

“We're already in New Zealand, looking at a type of amyloidosis, which is a condition where a protein is laid down in the liver but also elsewhere and that's ultimately a fatal condition that is potentially curable,” Longhurst says.

A larger global CRISPR/CAS9 treatment is in the works - with hopes that families like Judy Knox’s won't have to suffer their whole lives.


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