NHS patients living with genetic blood disorder thalassaemia are set to be among the first in the world to benefit from a “life-changing” gene-editing treatment which offers hope of a cure.
The one-off gene therapy, Casgevy, has been approved by for use on the NHS in England, from 8th August, by the National Institute for Health and Care Excellence (NICE) for older children and adults with a severe form of thalassaemia.
The NHS in England is among the first healthcare systems in the world to offer the treatment, with an estimated 460 patients in England currently living with transfusion-dependent beta thalassaemia, aged 12 and older, potentially eligible for the therapy which uses gene-editing CRISPR technology.
It will be offered at seven highly specialist NHS centres across the country within weeks, with the therapy being manufactured in the UK.
Thalassaemia is the name for a group of inherited conditions that affect a substance in the blood called haemoglobin. Most patients who could be eligible for this treatment currently need transfusions every 3-5 weeks to survive, which have a major impact on their quality of life.
In international clinical trials, 93% of patients with beta thalassaemia did not need a blood transfusion for at least a year after having the treatment, and it is hoped that the therapy could be a lifetime cure.
The therapy, Casgevy (exagamglogene autotemcel), works by editing a gene in a patient’s bone marrow stem cells so that the body produces functioning haemoglobin – it is the first approved therapy to use the Nobel Prize-winning CRISPR technology.
Amanda Pritchard, NHS chief executive, said:“This is a historic moment for people living with beta thalassaemia with a potential cure for those facing this debilitating disorder now available on the NHS.
“Ordinarily, patients experience painful side effects and undergo regular transfusions which severely impact their quality of life, but this therapy offers people a life free from that as well as the hope of living longer, which is truly amazing news.
“This is the latest in a series of revolutionary gene therapies to be secured by NHS England over the past five years, bringing significant benefit for patients – and thanks to funding through our Innovative Medicines Fund, this one-off therapy will be fast-tracked to patients who could benefit from the new lease of life it promises.”
Infusion
In the treatment, blood stem cells are removed from a patient’s body, they are edited in a laboratory using CRISPR technology, and the treated cells are then returned to the patient via an infusion.
Patients also need to receive chemotherapy before treatment with Casgevy. This is followed by a 4-6 week stay in hospital to allow the treated stem cells to embed themselves in the bone marrow and begin producing healthy red blood cells.
Beta thalassaemia is an inherited blood disorder that affects the red blood cells, which carry oxygen around the body.
It mainly affects people of Mediterranean, south Asian, southeast Asian and Middle Eastern background. There are around 2,300 people with thalassaemia in the UK, with an estimated 800 people with the severe form of the condition that rely on regular blood transfusions. In the UK, the largest groups affected are of Pakistani, Indian and Bangladeshi ethnicity.
The disorder requires lifelong treatment and can greatly impact on quality of life, with people suffering from anaemia, chronic pain and many also reporting psychological impacts, such as anxiety and depression.
Beta thalassemia is a life-limiting condition, with many patients not expected to live beyond their 50s.
Previously, the only curative treatment for patients has been a stem cell transplant, but this is only available to a small number of people – it can be difficult to find matched donors and people’s bodies can reject transplants.
Therapy
Kirthana Balachandran, 21, a medical student from West London, was diagnosed with thalassaemia when she was three months old, and said: “Gene therapy would mean a lot to me – it would be a life-changing treatment. I’m only 21 and the idea of depending on transfusions for quite literally the rest of my life is daunting.
“I constantly worry about the future and what blood transfusions would be like when I’m older and how I will manage my condition. My condition affects me a lot – sometimes I have muscle pain, back pain and I can even feel breathless or have palpitations when I walk uphill, if my haemoglobin level is low, I feel so tired.
“With gene therapy, I would potentially have a cure, and not have to have my three-weekly transfusions. I wouldn’t have to worry about the side effects of blood transfusions and the reactions I could have, such as iron depositing in my heart and liver, and what it could do to me.
“I wouldn’t have to be in pain while clinicians find a vein to cannulate me, because of my scars from years of cannulas. I’m young, but most of my veins in my hands and arms are bruised and scarred. Not needing to go for regular blood transfusions and worry about side effects or my future health would really change my life.”
Abdul-Qadeer Akhtar, 28, from Hemel Hempstead, received the new gene therapy as part of a clinical trial in 2020. He said:“My overall health and quality of life have significantly improved. I’m gaining more from my workouts and have even taken up boxing. I can travel more freely now, which is fantastic – I’m eager to embrace life to the fullest.
“Since the transfusion, things have been excellent. The biggest change is being healthier and more active. My only daily requirement is taking penicillin, but I am now independent and no longer need blood transfusions or have to plan my activities around my health.
“The treatment itself was challenging – the preparatory chemotherapy was tough, and I had a reaction after receiving the new cells, leading to a stay in the ICU. The recovery process included struggles like climbing stairs, but it was all worth it, because with hardship comes ease.”
Professor Bola Owolabi, Director of the National Healthcare Inequalities Improvement Programme at NHS England, said: “This is an incredibly exciting step forward in the treatment of thalassaemia and could drastically change the lives of those living with what can be an extremely painful condition.
“We are committed to reducing healthcare inequalities by rolling out new and pioneering treatments on the NHS for conditions, such as thalassaemia, which disproportionally affects people from some minority ethnic backgrounds.
“We hope this ground-breaking treatment enables people with beta thalassaemia to live longer, more independent and higher quality lives – without the need for regular treatments and hospital appointments and without pain, fatigue and other side effects that can come with this severe and life-limiting condition.”
Access
The NHS has negotiated a deal with manufacturer Vertex that will see the treatment enter its Innovative Medicines Fund (IMF), providing NHS patients with fast-tracked access while further evidence on its benefits to patients is gathered over the next five years.
Casgevy is being manufactured in Edinburgh. Today’s agreement follows the news, in January, of a world-first ‘blood matching’ genetic test to better match blood transfusions for patients with sickle cell disorder and thalassaemia on the NHS.
Romaine Maharaj, Executive Director, UK Thalassaemia Society, said:“With NICE’s approval of gene therapy for transfusion dependent thalassaemia under the NHS managed access scheme, we stand on the brink of a revolutionary breakthrough. This transformative treatment offers patients a life-changing opportunity, enabling them to repair their own cells and embrace a future free from the challenges of their condition.
“It is a beacon of hope that underscores the power of innovation in medicine, paving the way for curative options that can truly enhance the quality of life for everyone affected.”
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