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Gene editing treatment provides ‘permanent cure’ for hereditary disease



A group of patients with a hereditary disorder have had their lives transformed by a single treatment of a breakthrough gene editing therapy, new research has revealed.

The patients from the UK, New Zealand and the Netherlands have hereditary angioedema, a genetic disorder characterised by severe, painful and unpredictable swelling attacks.

These attacks interfere with daily life and can affect airways and prove fatal.

Now researchers from Cambridge University Hospitals, the University of Auckland and Amsterdam University Medical Center have successfully treated more than ten patients with the CRISPR/Cas9 therapy.

Principle investigatory Dr Hilary Longhurst is both a clinical immunologist at Auckland Hospital Te Toku Tumai and an honorary associate professor at the University of Auckland.

The researcher said: “It looks as if the single-dose treatment will provide a permanent cure for my hereditary angioedema patients’ very disabling symptoms.

“Plus, of course, there is huge potential for development of similar CRISPR/Cas9 treatments for other genetic disorders.”

Globally, it is estimated one in 50,000 people have hereditary angioedema. However, because it is rare, it is often not correctly diagnosed.

There were no serious or lasting side-effects from the single infusion in the phase one study, which took place over two to four hours under clinical supervision from late-2021 and onwards.

The investigational therapy, called NTLA-2002, harnesses in vivo CRISPR/Cas9 technology to target the KLKB1 gene, which is responsible for producing  plasma prekallikrein.

By editing the gene, the therapy reduces the levels of total plasma kallikrein, effectively preventing angioedema (swelling) attacks.

The trial, published in the New England Journal of Medicine, showed dose-dependent reduction in total plasma kallikrein protein with reductions of up to 95 percent achieved.

A mean reduction of 95 per cent in angioedema attacks was observed across all patients through to the latest follow-up.

The patients from the initial study will be followed up for a further 15 years to continue to assess the long-term safety and efficacy of the treatment

A larger and more robust, double-blinded, placebo-controlled phase two trial is under way and a Phase 3 trial is set to start in the second half of 2024.

Dr Danny Cohn, from the Department of Vascular Medicine at the Amsterdam University Medical Center said these promising results are a step forward for this group of patients.

The researcher said: “We’ve never been closer to the ultimate treatment goal of normalising hereditary angioedema patients’ lives and offering total control of the disease.”

Dr Padmalal Gurugama is consultant in clinical immunology and allergy at Cambridge University Hospitals.

The researcher said the gene editing therapy has the potential to significantly improve patients’ lives.

“Hereditary angioedema can cause patients severe swellings and intense pain which can be life-threatening as well as restricting normal activities, such as going to work or school.

“Because it is often misdiagnosed, many patients undergo unnecessary  treatments and invasive procedures.”

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