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26 April 2019

New drug hope for rare genetic disease

Bunmi Ekundayo, Schools Communications & Engagement Officer

A multinational study, led by scientists from King’s School of Cancer & Pharmaceutical Sciences and sponsored by Alnylam Pharmaceuticals has been published in the New England Journal of Medicine detailing the results of a phase 1 trial of a new drug, Givosiran, to reduce the frequency of attacks in acute porphyria.

split medication from a bottle

Acute intermittent porphyria is a rare inherited life-threatening genetic disease resulting in crippling pain for sufferers. There are currently no licensed drugs to prevent attacks of the disease making the results of this trial a great breakthrough in the treatment of patients. 

The study was led by Professor David Rees, Professor of Haematology at King’s and the Director of King's College Hospital National Acute Porphyria Service - the largest acute service in the UK, and one of only two sites taking part in the study in Europe.

This phase 1 trial showed that Givosiran and significantly reduced the frequency of attacks. Early results from the Phase 3 study have subsequently confirmed these results, showing a 74% reduction in attack frequency. 

The paper has been widely reported in national media including BBC News – which featured a patient on the trial, Sue Burrell who suffered from unbearable pain due to her condition and says her life has been transformed by the treatment.

"I've had pain for 10 years, I didn't expect that could go away. I'm seeing friends and they're [asking] 'you're not taking any painkillers?' and I was [saying] 'no!'."

This is a really important treatment - it's innovative. Porphyria is one of the first conditions it has been used in successfully. I'm genuinely surprised how well it works in this condition and I think it offers a lot of hope for the future.

Professor David Rees, Chief Investigator in the UK for the study

Read the paper in New England Journal of Medicine here.