NICE has today 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In its final draft guidance, NICE has
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 mutation in the ARG1 gene that prevents the body
from producing a working version of the
enzyme arginase, essential for the final stage of
the removal of toxic waste such as ammonia via
the kidneys in urine.
Without functional arginase, the amino
acid arginine cannot be broken down properly, resulting in a
build up of arginine and ammonia in the
bloodstream. High levels of these substances 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 limiting ammonia levels and 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 NICE can recommend it for
the estimated 20 people in England living with ARG1-D while
ensuring value for the
taxpayer.
Helen Knight, director of
medicines evaluation at NICE,
said: “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.
“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.”
Jack Turner, Deputy Director
of Medicines Negotiation & Access at NHS England
said: “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.
“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.”
Costing around £33,000 per year at its
list price1, 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 NICE has recommended for use in the NHS
out of the 34 it has evaluated as part of its Highly Specialised
Technologies programme for treatments for ultra-rare
diseases since it began in
2015.
ENDS
References
1 Based on initial starting dose of 0.1 mg per kg
of body weight and an average weight for an adult of 66
kg.
