Breakthrough sickle cell drug causes excitement
Clinical trials have shown that the one-time gene therapy, exagamglogene autotemcel (exa-cel), provides an effective cure in 96.6% of patients in addition to reducing pain completely and sickle cell crises/attacks.
Dr. Charles Kiyaga, the head of sickle cell program at the Uganda’s Ministry of health. (Photos by John Musenze)
NewVision Reporter
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A groundbreaking sickle cell disease treatment has been approved for use in the UK's National Health Service (NHS). The treatment offers patients with severe forms of the condition hope for a cure.
Clinical trials have shown that the one-time gene therapy, exagamglogene autotemcel (exa-cel), provides an effective cure in 96.6% of patients in addition to reducing pain completely and sickle cell crises/attacks.
How does the treatment work?
Exa-cel, which costs £1.65 million (about shillings 7.5 billion), is a gene therapy that earned its inventors the Nobel Prize for Chemistry in 2020.
The treatment works by editing the faulty gene in a patient’s stem cells, making it a viable option for those eligible for a stem cell transplant but without a matching donor.
Exa-cel, according to Nursing Times, is the second novel treatment for sickle cell, which has been approved for use in the NHS by the National Institute for Health and Care Excellence (NICE).
In 2024, the sickle cell disease community described the approval of voxelotor, a drug which can treat haemolytic anaemia, as a "landmark victory".
Initially rejected by NICE in March 2024 due to concerns about its effectiveness and cost, the treatment has now been approved after further assessment and a confidential pricing agreement between NHS officials and the drug manufacturer, Vertex Pharmaceuticals.
In clinical trials, all patients treated with exa-cel avoided hospital admission for a year following the procedure, and nearly 98% remained hospital-free up to 3.5 years later.
The treatment will be offered at specialist NHS centres in London, Manchester and Birmingham and later transferred to other countries after approvals for the licence from the World Health Organisation (WHO) and drug authorities.
NHS England chief executive Amanda Pritchard hailed the approval as a significant step forward: "This is a leap in the right direction for people with sickle cell disease, which can be an extremely debilitating and painful condition. This treatment could be transformative, allowing patients to live free from the fear of sickle cell crises".
Ugandan scientists welcome innovation
The approval of exa-cel has generated excitement among Ugandan scientists and medical experts, as sickle cell disease remains a major public health concern in Uganda.
Agnes Namuddu now 66 years is Uganda's oldest woman living with sickle cell disease.
Deogratias Munube, a paediatric haematology oncologist at Mulago Hospital and Makerere University, says this drug is an intervention for those with sickle cell.
He says the way it works is by reversing the sickle genes to make them normal, and the best part of it is you do not need a donor like just a bone marrow transplant.
Munube says as sickle cell researchers, they are excited because this is a change to the treatment modules and called upon sickle cell warriors not to worry about the price because, in the later future, demand will create price cuts.
Uganda has one of the highest prevalence rates in Africa, with an estimated 20,000 babies born with the condition annually.
In some regions, like Eastern Uganda and the Central region, nearly 13% of the population carries the sickle cell gene, contributing to high child mortality rates.
Mulago Hospital's sickle cell clinic has over 7000 warriors, unlike ten years ago, when the numbers were in 2000, according to Dr. Annet Nakirulu, a specialist in children at Mulago Hospital.
Nakirulu says the sickle cell burden is increasing in numbers with more positive cases after screening.
She says, unfortunately, this is a life burden, and any message about a new curing drug would be like the coming of Jesus to the patients.
Ruth Nankanja Mukiibi, the executive director at the Uganda Sickle Cell Association, praised the breakthrough:
"This is a game-changer for us. We have been relying on symptomatic treatments like pain management and blood transfusions, but a one-time curative therapy could transform lives in Uganda once it gets here." Nankanja said.
She says they have been relying on hydroxyurea and bone marrow transplant, which is inconvenient because of its adverse reactions and side effects.
“Our advocacy over the years has been to find a breakthrough for the next generation; we hope in the next 2-5 years pharmaceutical companies will make generic affordable drugs to benefit people in poor countries,” she said.
“We have already shared the news with our people all over Uganda and in Africa, and everyone is excited,” Nankanja adds.
However, challenges remain in making the treatment accessible to Ugandan patients. The high cost and need for advanced medical infrastructure pose significant barriers.
Dr. Edward Kisakye from the Mpigi Health Centre 4 sickle cell clinic, which is among the highly burdened districts, stressed the importance of government intervention.
"We need to start conversations on how to bring this treatment to Uganda. Our health system must prepare for integrating gene therapies, and we must explore funding opportunities to ensure affordability." Kisakye said.
Hope for the future
According to Dr. Charles Kiyaga, the head of the sickle cell program at Uganda’s Ministry of Health, Uganda has a total of over one million sickle cell warriors, with over 20,000 newborn sickle cell warriors born every year, but 15,000 of these do not live to celebrate their 5th birthday.
The health ministry estimates 20% of the general population has a sickle cell trait.
Unfortunately, Kiyaga says Uganda gets a total of 1.7 million births annually, but they have consistently been able to screen only 50,000 newborns in highly burdened areas every year.
He emphasised the importance of prevention and early screening.
“We welcome the news with open hands; this is a treatment drug on a prevention drug and we all know prevention is better than cure.” Kiyaga said.
"Our people need to continue testing while we wait for this drug. I am sure that once this treatment drug becomes available on the market, the Government and its partners will find a way to make it accessible to the common person," Kiyaga added.
For families affected by sickle cell disease, the possibility of a cure brings hope. William Kateeba, a father of a child with sickle cell disease, said: "I have always seen how painful these attacks and crises are for my son. He goes through immense suffering. I believe organisations like the World Health Organisation will ensure that even those in poorer countries like Uganda have access to such innovations. This treatment should not be just for the rich".
What is sickle cell disease?
Sickle cell disease refers to a group of inherited conditions affecting red blood cells, with sickle cell anaemia being the most severe form.
The disorder causes red blood cells to take on a crescent or "sickle" shape, leading to blockages in blood vessels, severe pain episodes (known as sickle cell crises), and an increased risk of infections and anaemia.
The condition is particularly common among individuals with African or Caribbean ancestry. If both parents carry the sickle cell gene, there is a 25% chance that their child will inherit the disease.
Currently, the only widely available cure is a stem or bone marrow transplant, which carries significant risks and is rarely performed. The bone marrow transplant also carries another burden of its costs and also complications to the patient after.