NICE recommends first ever disease modifying treatment for ARG1 deficiency
Nice has recommended the first disease modifying treatment for arginase 1 deficiency (ARG1-D), an ultra-rare, inherited and progressive metabolic disorder, for routine use in the NHS in England.
In our final draft guidance, we’ve recommended pegzilarginase (also known as Loargys and made by Immedica) for treating ARG1-D in adults, adolescents and children aged 2 years and older.
ARG1-D has a substantial impact on health, quality of life and life expectancy. It is caused by a genetic mutation that prevents the body from producing a working version of the enzyme arginase, essential for the removal of toxic waste such as ammonia via the kidneys in urine.
Without functional arginase, high levels of ammonia and other toxic substances build up in the body; these are thought to be a main cause of the neurological symptoms associated with the condition.
Symptoms of ARG1-D typically emerge around the age of 3 and, as well as learning difficulties, may include stiff or tight muscles, particularly in the legs (spasticity), seizures and poor or slowed growth.
Without a cure or disease modifying treatment for ARG1-D, care has focused on managing symptoms through protein restricted diets, regular feeding schedules, and medicines to reduce levels of ammonia in the blood.
Clinical trial evidence shows that adding pegzilarginase to usual treatment reduces levels of arginine in the blood. Evidence also suggests improvements in mobility and mental processing, but it is uncertain how large these improvements are because the studies were small and short.
Today’s decision follows a commercial agreement between NHS England and Immedica and a price for pegzilarginase that means we can recommend it for the estimated 20 people in England living with ARG1-D while ensuring value for the taxpayer.
This is a significant milestone for people with this debilitating genetic condition who will now be able to access this first of its kind treatment routinely on the NHS.
Helen continues, "It is estimated that 20 people in England have ARG1-D and today’s decision means pegzilarginase will give some of them and their families real hope of a better quality of life. We’re therefore pleased the company was able to work constructively with us and NHS England to reach a deal that gives people with ARG1-D access to this promising new treatment.”
It’s fantastic news for patients and their loved ones that this pioneering, first-in-class treatment will now be available on the NHS to help manage some of the complex, challenging symptoms of this ultra-rare condition.
Jack added, "The novel commercial deal for pegzilarginase will offer fresh hope, unlocking access to an innovative treatment for dozens of people affected by this condition – many of them children – and while not a cure, it could make a really positive difference to their everyday lives.”
Pegzilarginase is an enzyme replacement therapy given either through an infusion (drip) into a vein or as an injection. It works similarly to natural arginase, lowering arginine levels in the blood and helping to reduce the symptoms of ARG1-D.
Pegzilarginase becomes the 32nd treatment we’ve recommended for use in the NHS out of the 34 we’ve evaluated as part of our Highly Specialised Technologies programme for treatments for ultra-rare diseases since it began in 2015.