NICE have recommended the use of givosiran, a gene silencing therapy, on the NHS in England, as an option for the treatment of acute haptic porphyria (AHP), a painful disease usually first seen in young women in their 20s.
AHP is a group of rare genetic diseases, characterised by painful and potentially life-threatening attacks. It is caused by a genetic defect, and people suffering from it lack the enzymes needed to produce haem, a basic structure of the blood protein haemoglobin.
Patients suffering from AHP may experience recurrent attacks which may result in hospitalisation. There are currently approximately 17 patients across the UK who are diagnosed each year.
Givlaari (givosiran), uses ‘gene silencing’ RNA interference technology, to target the production of pathogenic compounds in people AHP. NICE’s approval is based on data from a Phase III study, in which treatment led to a 74% reduction in the rate of porphyria attacks compared to placebo.
Givosiran is the first and only treatment to address the underlying cause of this disease. The science behind this medicine won a Nobel prize in 2006; it works by shutting off the production of harmful proteins which cause the disease. RNAi stops the production of these proteins at the source.
Professor David Rees, Professor of Haematology at King’s College London and Director of the King's College Hospital National Acute Porphyria Service said: “It is hard to overstate the life-limiting impact of this condition on patients and their families. Some patients experience regular, intense pain, have to spend long periods of time in hospital and be unable to continue working or have a normal social life.
“By using this pioneering ‘gene silencing’ approach, we can now target the production of toxic compounds that have the potential to wreak havoc in the body – tackling the cause of a patient’s attacks at the source. We now have a better chance to help many of those affected live a more normal life.”