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First patient in Yorkshire given potentially life-saving gene-therapy drug at Sheffield Children’s

Baby Markuss asleep on his side with grey and white star blanket
07 July 2021

A two month old baby is the first patient in Yorkshire to receive a potentially life-saving drug that can prevent paralysis and prolong the lives of children with Spinal Muscular Atrophy (SMA).

Baby Markuss received the drug Zolgensma, which is a one-off gene therapy, at Sheffield Children’s Hospital.

Zolgensma treats SMA, which is a rare and often fatal genetic disease that causes paralysis, muscle weakness and progressive loss of movement. Zolgensma can provide improvement in motor function for young children with a specific type of SMA and prolong their lives.

Markuss’ mum Gunita, explains the process of receiving his diagnosis for Type 1 SMA, and getting the treatment: “The health visitor noticed that something was wrong soon after he was born. Markuss was tested at our local hospital, where they told me that he had Type 1 SMA – that was when he had just turned two months old. We were then told about this treatment, and decided to go for it. Two weeks after that, we were in the hospital having the gene-therapy treatment. Everything happened so fast and quick.”

Zolgensma is given as a one-off dose – this means a patient has a drip inserted into their vein to have the medicine infused over a period of one hour, just once. Markuss was given the drug at Sheffield Children’s Hospital and after staying in hospital for a few days will stay close by for post-infusion check-ups for about two weeks before going home.  The expectation is that after receiving Zolgensma, Markuss will have a better chance of sitting, crawling and walking, things that children with Type 1 SMA struggle to do at all.

Sheffield Children’s is one of the four centres approved for the use of Zolgensma for the treatment for Type-1 SMA.

The Trusts will work together in collaboration with regional Neuromuscular Centres across the country, to share expertise and experience for this new therapy. Clinical teams at Sheffield Children’s will assess patients individually for their eligibility and, alongside the family, consider whether treatment with Zolgensma is the best approach.

Markuss’ mum Gunita, said: “The whole infusion thing was over in an hour and Markuss slept through all of it. I was really nervous before, but he’s doing ok. It’s just the one treatment – they gave the missing gene back to him.

“Everyone at Sheffield Children’s has been just awesome. I’d like to say thank you to everyone for saving his life. So many people have been involved and I want to say thank you to every one of them. For me and for my family and friends, thank you.”

Sheffield Children’s Hospital neuromuscular team has been at the forefront of treating children with Spinal Muscular Atrophy (SMA) since 2017, when a specific treatment named Nusinersen, a medicine injected into the spine to help SMA patients, was made available in the UK.

The dedicated neuromuscular team look after patients from South Yorkshire, Leicestershire, Nottinghamshire, Derbyshire and the midlands. They are experienced in many areas including respiratory and ventilation support, spinal management, therapy, metabolic bone and intensive care support, as well as counselling and supporting patients and families with this condition.

Jeff Perring, Medical Director at Sheffield Children’s, said: “We are delighted to be able to offer this treatment to young patients affected by Spinal Muscular Atrophy. This treatment will really improve the quality of life for these children and we’re proud to be part of this great advance in treatment using gene therapy.”

 

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