Scientists use Crispr gene editing to treat hereditary disorder

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Scientists have used Crispr gene editing to treat sufferers of a debilitating hereditary swelling disorder, increasing the possibility that the pioneering technique will be able to combat a wide range of diseases. 

The phase 1 clinical trial found that one dose of the remedy led to a huge reduction in bouts of angioedema for a small group of patients from the UK, the Netherlands and New Zealand, according to a paper published on Wednesday in The New England Journal of Medicine. 

The reported success highlights the gene therapy’s fast-expanding applications in healthcare, after UK and US regulators approved drugs based on Crispr technology late last year.

“It looks as if the single-dose treatment will provide a permanent cure for my hereditary angioedema patients’ very disabling symptoms,” said Hilary Longhurst, principal investigator on the work and a clinical immunologist at Auckland City Hospital. “Plus, of course, there is huge potential for development of similar . . . treatments for other genetic disorders.”

Hereditary angioedema triggers crippling bouts of swelling, which can cause breathing difficulties and even be fatal. It is a rare condition that is estimated to affect one in 50,000 people.

The treatment targeted the KLKB1 gene, which plays a crucial role in hereditary angioedema. The gene produces plasma prekallikrein, a compound thought to be part of the biochemical process that causes the swelling attacks. 

The group of 10 patients experienced a 95 per cent reduction in attacks on average after receiving the treatment, the study found. They will now be observed for 15 years to assess the long-term safety and efficacy of the therapy, which is expected to yield phase 2 clinical trial results later this year. 

The results so far suggested the new treatment was “safe and good”, said Sorena Kiani, a consultant immunologist at London’s Royal Free Hospital, who noted that the study was small and that the long-term effects would need to be observed. Gene therapy was an “incredible technology” that promised to help treat various life-threatening conditions, said Kiani, who was not involved in the study.

Intellia Therapeutics, a US genome-editing company that is developing the angioedema treatment, said it was “highly encouraged” by the latest results. The study provided more evidence of the “immense potential impact” gene-editing platforms could have on human health, said John Leonard, Intellia’s president and chief executive officer.  

Intellia has already begun phase 3 clinical trials for a therapy targeting a disease called ATTR amyloidosis, in which a genetic mutation causes the liver to produce damaged proteins. 

Other companies are developing therapies based on Crispr, which is based on the bacterial immune system. The technology was discovered in 2012 by Jennifer Doudna and Emmanuelle Charpentier, who won a Nobel Prize for their work in 2020. Charpentier formed Crispr Therapeutics, a Nasdaq-listed company, in 2013 to boost the development of gene editing to treat diseases.

In November, the UK became the first country to approve a treatment based on Crispr, targeting sickle cell disease and beta thalassaemia. In December, the US Food and Drug Administration approved two gene therapies to treat patients with sickle cell disease.