Charities and a Glasgow patient support group are welcoming a decision by Scotland’s NHS medicines gatekeeper to give the green light to the use of a ‘groundbreaking’ gene-therapy to treat people with sickle cell disorder. The intervention is being described as a ‘functional cure’, with 97% of people treated in clinical trials living without symptoms of the condition a year after treatment.

Stem cell charity Anthony Nolan and the Sickle Cell Society say the decision by the Scottish Medicines Consortium (SMC) to accept the CRISPR gene therapy, exa-cel (exagamglogene autotemcel) as a treatment for people with severe sickle cell disorder in Scotland is a ‘landmark moment’.

The genetic disorder affects the shape of red blood cells, which become deformed and can then get stuck in small blood vessels causing blockages, organ damage and severe pain.

Exa-cel, also known by the brand name Casgevy, involves extracting a patient’s own blood stem cells, modifying them so they produce healthy red blood cells, and reinfusing them back into the person.

One of only a handful of global centres able to manufacture exa-cel is RoslinCT in Edinburgh.

Until now, the only curative treatment available to people with sickle cell in Scotland was a donor stem cell transplant – but only if a matching stem cell donor could be found.

Caitlin Farrow, director of strategy and influencing at Anthony Nolan, welcomed SMC’s decision:

“This is a landmark moment for people living with sickle cell disorder in Scotland.

"Following NICE’s recommendation of Casgevy for use in England last year, it is hugely encouraging to see the SMC take this same step forward, ensuring patients in Scotland can now also benefit from the UK’s first CRISPR-based therapy.

“Treatment options for patients with sickle cell have been limited, with a potential cure only available to those fortunate enough to have a suitable stem cell donor.

“Casgevy offers new hope to many more people, most of whom are from African and African-Caribbean backgrounds, who are living with a disease that has historically been underinvested in.

“This decision has the potential to be life-changing and underlines the promise of gene therapy for previously difficult to treat or incurable diseases.”

Paula Shutt, communications manager at the Sickle Cell Society, added:

“We are absolutely delighted to see this groundbreaking gene therapy become available to people living with sickle cell in Scotland.

"This marks a significant step forward in ensuring that those affected by sickle cell have access to the care, treatments and support they deserve.

“It is a particularly important moment for Scotland to see a treatment based on Nobel Prize-winning science being applied to a debilitating condition that has, for far too long, had limited treatment options, and to see that innovation has been manufactured, amongst other places, right here in Edinburgh.

“While we celebrate this milestone, we know there is still much more to do as sickle cell remains the fastest growing genetic condition in Scotland. We will continue to campaign for greater access to treatments, improved care pathways, and sustained investment, so that everyone living with sickle cell can achieve the best possible quality of life.”

Hope in Glasgow

Glasgow-based Olalekan Oyedepo, who lives with sickle cell, is co-founder and project coordinator at The Hope Project Scotland:

“We welcome today’s decision by the SMC to approve Casgevy gene therapy for sickle cell disease patients in Scotland. This brings Scotland into line with England, where the treatment was approved last year, and represents a significant milestone for patients living with sickle cell.

“Today's decision shows what's possible when health systems recognise the needs of sickle cell patients.

"Now we must ensure that this recognition extends to comprehensive care provision. Scotland's sickle cell community deserves nothing less.”

SMC’s decisions

The SMC issues advice for NHS boards each month following assessment of new medicines for their cost effectiveness.

This month it published its decisions on a total of ten medicines – though four of these were rejected because the companies behind them had not submitted an application for their medicine to be used in Scotland.

Three others that SMC accepted for use in NHS Scotland were:

• Marstacimab (Hympavzi®), a medicine to prevent or reduce bleeding in people aged 12 and older with severe haemophilia B, an inherited bleeding disorder;
• Zolbetuximab (Vyloy®) an anti-claudin 18.2 monoclonal antibody which can be used alongside chemotherapy as a first treatment adults with advanced stomach cancer that has tested HER2-negative. The company behind the medicine estimates that 67 patients a year will be eligible for the treatment;
• Nivolumab (Opdivo®), when used together with Yervoy® (ipilimumab), for the first-line treatment of adults with advanced colorectal cancer with a specific genetic mutation. Bowel cancer is one of the most common cancers in Scotland, with approximately 4,000 people diagnosed with the disease every year, of whom up to 7% have the mutation concerned.

A treatment for people with 'extensive-stage' small cell lung cancer was not accepted because SMC felt the company had not present a sufficiently robust economic analysis.

 

Read more: Call to address climate impact of medicines; Authentic voice of patients needed in drug development; New treatment for rare genetic condition approved

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