Muscular Dystrophy UK says that Spinraza is the first and only treatment for patients with spinal muscular atrophy (SMA), a rare and inherited muscle-wasting condition.
Without access to it, life expectancy for those with SMA type 1 - the most severe form - is rarely longer than two years, campaigners warn, and they claim the drug can also help people with other forms of SMA.
The charity spoke out on the day it and families affected by the condition are meeting officials at the Scottish Medicines Consortium (SMC) to make their case for Spinraza to be approved in Scotland.
Robert Meadowcroft, chief executive at Muscular Dystrophy UK, said: “SMA can be devastating, and Spinraza offers families a rare glimmer of hope.
“Its most severe form means parents have to see their child gradually lose their ability to crawl, move, breathe and swallow while there is a treatment out there which could help. Nothing can prepare you for the emotional turmoil this causes.
“Spinraza is not a cure, but it can buy families time to spend with their loved ones. Some children who have received Spinraza have seen their muscle strength improve and have already lived long enough to crawl, and even walk. For parents, this is priceless.
“The SMC has a chance to hand patients the lifeline they so desperately need. If they squander this opportunity to bring hope into the lives of people affected by muscle-wasting conditions, families will be made to pay a very heavy price.”
The charity estimates that more than 100 people in Scotland and up to 1,300 in the UK have SMA.
Hayleigh Barclay, 30, from Prestwick in Ayrshire, who has SMA type 2, said: “It’s hard to overstate how much of a lifeline Spinraza would be for many people.
“I’m a very determined, ambitious person with many goals, but having to constantly battle against the effects of SMA severely impacts on your quality of life.”
The SMC is currently appraising Spinraza for use on NHS Scotland for children and adults with SMA types 1, 2 and 3. It is also being assessed by Nice in England.
Tuesday’s meeting comes ahead of the SMC making its final decision on the approval of the drug next month.
Muscular Dystrophy UK said treatment is currently being delivered to children in Scotland via a special compassionate access scheme, with the drug being provided free by manufacturer Biogen and the NHS in Scotland funding the costs of administering the treatment.
It is a temporary scheme, however, and only supports a small number of those with SMA who could benefit, according to the charity.
A spokesman for the SMC said: “We are currently reviewing nusinersen (Spinraza).
“The SMC committee will make a decision at its meeting on April 3. Patient groups who have made a submission to us about this medicine will have the opportunity to input to the meeting.
“The committee’s decision will be published on Monday May 7.”