Survival rates rise for children with rare muscle-wasting disorder

Survival rates among babies born with a rare muscle-wasting disorder have been dramatically boosted by “transformative” new treatments, the NHS says.

The first effective drug for spinal muscular atrophy (SMA) was approved in 2019 and soon followed by two others.

Before the medicines were rolled out, a US study found that fewer than one in ten children born with SMA type 1 – the most common form – survived to the age of 20 months without needing permanent ventilatory support.

NHS England now estimates that almost three quarters of infants survive for more than two years.

Amanda Pritchard, NHS chief executive, said: “It’s fantastic to see that more and more children diagnosed with this debilitating condition are living longer and with greater independence, thanks to cutting-edge treatments now available on the NHS.

“Before 2019 there were no effective drugs for this condition – and, while there is so much still to do, we’re delighted that access to these new and transformative treatments through the NHS is already making a real difference for families, enabling more babies to stand up and take steps.”

Around 70 children are born with SMA each year in the UK. The condition causes muscle weakness, progressive loss of movement and paralysis.

Between 2008-2017 there were around 25 deaths from SMA each year in England.

Data from the national SMA Research and Clinical Hub database shows that in the five years to this March, a total of only 11 deaths were recorded across the UK.

The dramatic improvement has largely been driven by the drug Spinraza, which was the first found to target the underlying cause of SMA.

A small number of patients have also benefited from gene therapy Zolgensma, which was thought to be the most expensive drug in the world at the time of its approval in 2021, with a list price of £1.79 million.

A third medicine, a syrup medicine taken once a day after meals called risdiplam, was approved the same year.

Professor James Palmer, NHS England’s national medical director for specialised services, said: “A trio of new treatments are improving outcomes for NHS patients by slowing the progression of SMA, enabling a longer and better quality of life with family and friends.

“It’s brilliant to see the life-changing impact these drugs are already having and there is every reason to believe we will see an even greater impact over time, especially when babies receive treatment at the earliest opportunity.”

Case study 1

Three-year-old Hidaya Iqbal was diagnosed with SMA type 1 after her mum noticed a developmental delay.

Investigations at Leeds General Infirmary revealed a family history of the condition.

She was treated with Spinraza first, and then received the one-off gene therapy Zolgensma.

Hidaya’s father Nasser said: “The new treatments for SMA have been absolutely life-changing.

“We have seen the effects of the condition in our family, and it really is the difference between life and death. My daughter wouldn’t be here without the treatments, it really is as simple as that.”

Hidaya, of West Yorkshire, cannot walk, has breathing difficulties and is fed through a tube connected directly into her stomach.

But she has recently reached the milestone of standing up and taking a step forward with her parents supporting her arm.

Nasser added: “She sits up when she goes to school and can work her way through the iPad herself at home, doing things like watching videos on YouTube Kids.

“Our short-term goal is that she’ll hopefully be able to start going to school full time.

“All the care we’ve received is incredible. When we’ve needed to take Hidaya to the local A&E, where they might not have seen the condition before, they’ll ring the specialist team at Leeds to talk through the issues and you can really see the joint working in action.”

Case study 2

Elijah Marsden was born with spina bifida and diagnosed with SMA type 2 aged four.

He began receiving Spinraza every 16 weeks at Sheffield Children’s Hospital.

His mother Emily said Elijah, now seven, has grown stronger and can do more in his physiotherapy sessions since taking the drug.

She added: “He’s a lot more awake and alert and has less muscle fatigue, so he can do things like wearing his leg splints for longer and write for longer as well. He also sleeps a lot better closer to when he has the treatment.”

Elijah, of Leicestershire, is a keen swimmer and a Beaver Scout and goes to a mainstream school.

Emily said: “Our hope is that the nusinersen will keep working and that one day Elijah will be able to live independently.

“It would also be good to see SMA included in the heel prick test for infants. We had no idea that the genes were in the family, but if we had found out about SMA earlier, Elijah could have received a one-off treatment.”

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