Recent clinical trials have confirmed that a promising gene therapy for cerebral adrenoleukodystrophy (CALD), a rare childhood brain disorder, increases the risk of cancer. The drug has been approved by the U.S. Food and Drug Administration and has shown significant success in treatment; however, the latest studies indicate that while it may cure one serious illness, it could lay the groundwork for another, reports ScienceAlert.
Phase two and three studies, both published in the New England Medical Journal, revealed that six out of 67 patients developed myelodysplastic syndrome (MDS), which can lead to cancer, and one patient developed leukemia. Genetic analyses pointed to therapy-related mutations as potential triggers.
CALD is caused by a mutation in the ABCD1 gene, which prevents the body from breaking down very long-chain fatty acids, resulting in damage to the protective sheath surrounding nerve cells. Without treatment, the disease gradually destroys the nervous system, causing cognitive and motor impairments, and often leads to death. Traditional CALD therapy involves stem cell transplantation from a genetically matched donor, but this approach carries the risk of immune reactions and rejection.
To circumvent these complications, researchers developed a method to introduce the ABCD1 gene into the patient's own stem cells using a modified HIV virus. This approach resulted in a treatment that stabilizes disease progression in 72 percent of patients, a significant improvement compared to 43 percent of patients who did not receive treatment. Considering that nearly half of young patients with CALD die within eight years without treatment, this success represents a major breakthrough.
However, despite the effectiveness of the treatment, the identified cancer risk dampens scientists' enthusiasm for such therapies. Neurologist Florian Eichler from Massachusetts General Hospital expressed cautious optimism, acknowledging that while the therapy effectively stabilizes CALD, the occurrence of malignant tumors raises serious concerns. Researchers are now focused on understanding and mitigating the risks of cancer to make treatment safer.
Gene therapy continues to evolve, offering hope to patients facing life-threatening diseases, albeit not without challenges, such as the recently discovered complications. Oncologist David A. Williams from Boston Children's Hospital speaks of complex trade-offs, noting that despite the real risks, these advancements provide critically important opportunities for families with limited alternatives and support future enhancements of such treatments.
Important! This article is based on the latest scientific and medical research and does not contradict them. The text is for informational purposes only and does not contain medical advice. For a diagnosis, be sure to consult a doctor.