Генная терапия показала 96% эффективность в лечении серповидноклеточной анемии

For people with sickle cell disease, life is often defined by a relentless cycle of pain crises, hospital admissions and major organ complications. Now, researchers are testing treatments that target the biology behind the illness, raising the possibility of changing how it affects patients. One of the latest is renizgamglogene autogedtemcel, known as reni-cel, an experimental gene-editing therapy tested in the RUBY trial. Research published in the New England Journal of Medicine found that 27 of 28 patients had no vaso-occlusive events after receiving the therapy. These episodes occur when sickled red blood cells block blood flow, causing pain and potentially contributing to organ damage. Reni-cel also produced substantial increases in haemoglobin and foetal haemoglobin. The findings are encouraging, but the treatment remains investigational, with the trial carrying a median follow-up of 9.5 months. Speaking to Guardian Media, consultant haematologist and medical director of the National Blood Transfusion Service, Dr Shivir Moosai said the significance of the development must be viewed against the damage the illness can cause over time. “Although sickle cell disease is primarily a disorder affecting the haemoglobin in red blood cells, it extends far beyond. The abnormal red blood cells can block small blood vessels and are broken down prematurely, causing anaemia. Years of repeated episodes can progressively damage organs such as the brain, lungs, liver, kidneys, bones and eyes. Patients may develop severe infections, strokes and chronic pain, and it is this cumulative damage, rather than pain crises alone, that can shorten life expectancy.” That heavy global toll is underscored by data from the World Health Organisation, which estimates 7.74 million people were living with the condition in 2021, with nearly 80 per cent of cases in sub-Saharan Africa and 376,000 deaths worldwide that year. Understanding the science “Sickle cell disease is an inherited disorder caused by a genetic mutation,” Moosai explained, breaking down the underlying science. Unlike traditional gene therapies, reni-cel does not correct that underlying mutation. Instead, using CRISPR-Cas12a technology, it disrupts BCL11A binding sites in the regulatory regions of the HBG1 and HBG2 promoters to reactivate foetal haemoglobin production—higher levels of which prevent red blood cells from sickling. While the genetic mutation remains present, experts describe the therapy’s success as a functional cure because it suppresses the cellular sickling process, halting downstream complications. “Although the results are very encouraging, the number of patients is relatively small and longer follow-up is needed before we know how durable the benefit will be.” An inside look The meticulous process begins with a patient’s own blood-forming stem cells. “Using advanced technology in a lab setting, the DNA of those stem cells is edited to switch foetal haemoglobin production back on,” Moosai said, “protecting the red blood cells from sickling and preventing future crises.” This is not a simple injection. It requires hospitalisation and high-dose chemotherapy to clear space in the bone marrow. Significant short-term side effects include severe infections, low blood counts and infertility. “There are also uncertainties about very long-term effects of gene editing, which is why patients require prolonged monitoring,” he added. Other gene therapies are already approved internationally, providing encouraging evidence that this approach can offer lasting benefits. One such treatment is Casgevy, which uses CRISPR-Cas9. It was approved in the United States in 2023 and, on July 1, 2026, the US Food and Drug Administration expanded its use to eligible patients aged two years and older with sickle cell disease and recurrent vaso-occlusive crises. The possible benefits For someone who has lived with the disease since childhood, the potential impact is enormous. If the results prove durable, patients could experience a better quality of life and less dependence on ongoing treatments. As Moosai said: “It could allow people to attend school, work, travel and plan their lives with much less fear of the next crisis. However, damage to organs that occurred before treatment may not necessarily be reversed.” For now, standard management approaches remain vital. The oral medication hydroxyurea helps the body produce more foetal haemoglobin to keep red blood cells from distorting into sickle shapes, while blood transfusions offer relief for severe anaemia. Patients also rely on routine vaccinations, infection-fighting antibiotics, and folic acid, paired with regular monitoring and coordinated care. Alongside these traditional therapies, he noted that careful donor selection and advances in transplant techniques have improved outcomes considerably, establishing transplantation as a crucial option for eligible patients. Closer to home According to the doctor, reliable national statistics are not available, though published newborn screening data from Tobago indicates sickle cell disease affects approximately one in 176 births, with the sickle cell trait present in about nine per cent of births. Bringing such advanced options to the twin-island nation would require significant health-system transformation, with costs being a major challenge. “First, the treatment would need to complete clinical development and receive the appropriate regulatory approvals,” he said. “Trinidad and Tobago would then need to consider funding and develop or access the highly complex infrastructure required for stem cell collection, gene manipulation, stem cell transplantation and long-term follow-up. Cost will be a major consideration. In practical terms, this would require coordinated planning involving haematologists, transplant centres, laboratories, regional health authorities and potentially international treatment centres.” With those clinical questions still open, patients and medical teams await the extended follow-up data needed to confirm long-term durability—and whether these breakthrough options can successfully transition from trials into accessible regional care.