Health Editor(wp/es):
A drug that is transforming the life of a young girl should be made available on the NHS to 2,000 other children with the same life-limiting condition, her parents said today.
Aged nine months, Annabelle Rose Thomas was diagnosed with type 1 spinular muscular atrophy (SMA), a rare genetic disorder that affects walking, eating, drinking and breathing.
Her parents Chris and Michelle Thomas were given the news just two days before Christmas in 2016, and were told their daughter was unlikely to survive beyond 18 months.
Now two years eight months, Annabelle Rose has come off breathing support, can swallow food and has ridden a horse after becoming the first British girl to receive a “game-changer” drug called Spinraza.
Her parents describe her improvement as a “miracle”. Mr Thomas said: “We were told two Christmases ago that she wouldn’t live beyond 18 months and wouldn’t talk, walk or breathe unaided.
"But, because of this drug, she is doing all of these things, which is just incredible.”
The NHS drug approval body NICE (National Institute for Health and Care Excellence) published guidance in August that did not recommend Spinraza, also known as nusinersen, due to “significant uncertainties” around its long-term benefits and “extremely high” cost.
Made by US firm Biogen, it costs £75,000 per dose. It is administered by four initial injections into the cerebral spinal fluid, followed by a top-up injection every four months.
Annabelle Rose received it free under an “expanded access programme” set up by Biogen at Great Ormond Street hospital. She has received eight doses and will continue to receive the treatment.
About 80 UK children have received the drug under the access programme. Parents of other children with SMA, which can also develop in adulthood, want NICE to grant approval.
The call is backed by a cross-party group of MPs, including the Thomas’s MP, Wes Streeting.
Mr Streeting, Labour MP for Ilford North, told the Evening Standard: “It is frankly cruel to withhold this treatment from parents, who know that the quality of life for their children could be dramatically improved.”
SMA affects the “motor” functions in the spinal cord and lower brain stem, resulting in severe and progressive muscle wastage.
The drug is already available in Scotland, the US and Europe.
NICE said a committee met on Tuesday to discuss public feedback following its August recommendation. A final decision is expected in four to five weeks.
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