Families seek access to ‘life-changing’ drug for sufferers of rare genetic illness

PATIENTS WITH the most severe form of a genetic condition could lose the ability to move, breathe and swallow unless a “life-changing” treatment is approved for use on the NHS in Scotland, according to a charity.

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 were 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.”

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.