Phase One Breakthrough In Gene Therapy For Hereditary Angioedema



A breakthrough in gene therapy has been made in phase one of clinical trials for HAE medical treatment, leaving HAE UK Chair and Quattro Road Services Director Ann Harding feeling ‘emotional.’

Hereditary Angioedema, or HAE, is a rare disease that affects 1 in 50,000 people and is caused by a genetic mutation that results in erratic bouts of swelling anywhere in the body.  The swelling can happen without warning; the most serious of which is the throat which can lead to suffocation and death.  Ann’s daughter Sian has suffered with HAE and the unpredictability of the condition her whole life.

‘To say I am emotional  as the chair of HAE UK and as Sian’s mother is an understatement. Medical, trustees, donations and pharmaceutical companies have got us to this place and they should all be super proud.’

Ten patients took part in phase one trials across the UK, New Zealand and the Netherlands, each receiving an infusion of “nano lipids” to enter liver cells and knock out the swelling gene.  This trial has shown dramatic improvements in treatment with an interim halt of symptoms and attacks.

‘I had hoped that oral medication would be the game changer.  Never in my wildest dreams did I believe there would be an infusion, although in its early stages, that would be so effective.’

The groundbreaking research is set to continue with further human trials and stages. Doctor Hilary Longhurst, Senior Medical Officer at Auckland District Health Board said the HAE UK Charity had been a vital partner in developments:  ’A cure for the symptoms of hereditary angioedema may finally be within our grasp.  Patient organisations such as HAE UK have been vital partners in the development of treatments and even more importantly, in ensuring that these treatments get to the families with HAE that so badly need them.’

Dr Padmalal Gurugama, who led the UK branch of research at Cambridge University Hospital, said the therapy could ‘significantly improve lives.’ 

‘This is just the beginning’, declared Ann.  ‘It’s not readily available yet, but after years of struggle there is, with an amazing medical team, a light at the end of a very dark tunnel’.

The incredible breakthrough has been featured in The Times, The Guardian, the BBC website, The Independent, The Evening Standard and many online medical journals.

‘We are overjoyed for Ann, Sian and the charity with the success of these early results’, said Quattro MD, John Murphy.  ‘We will continue to support HAE UK as they complete the journey in establishing a definitive and final cure.’

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