A new small study has shown that an experimental gene therapy could be a promising treatment for chronic spinal muscular atrophy, a severe form of this muscle wasting that affects one in every 3,500 males born annually in the United States, leading to progressive muscle weakness.
This atrophy also causes a loss of the muscles' ability to recover after injury, eventually replacing muscle tissue with fat and collagen. Many children affected by this condition require a wheelchair before reaching their teenage years. Their hearts and lungs can also be affected as the disease progresses. Notably, acute spinal muscular atrophy occurs due to a mutation in the dystrophin gene, which is essential for muscle growth and health. The new experimental treatment provides a form of the dystrophin gene, which is injected directly into the muscles.
This study, conducted by a team from the University of Florida in Gainesville, included six boys aged between 4 and 7 years suffering from spinal muscular atrophy. Three of them received the experimental gene therapy while the other three underwent standard treatment. Researchers observed that the boys in the gene therapy group had less fat infiltration in their muscles than those who received the conventional treatment. This was according to a study recently published online in the prestigious journal JAMA Network Open.
Rebecca Wilcox, an assistant professor in the university's Department of Physical Therapy, noted that seeing the low levels of muscular fat among the boys participating in the study over the study period was significantly interesting, highlighting the need for further research, especially in light of these encouraging results.
It is worth mentioning that a study published last year in JAMA Neurology found that four boys suffering from spinal muscular atrophy who received gene therapy showed improvements in physical function over one year. Wilcox stated, "The results from the clinical trials during this study showed that these boys significantly improved functionally, but since they are very young, it is difficult to determine how much of the motor function gains were due to the gene therapy and how much was due to natural growth and maturation."
Additionally, Wilcox and her colleagues are leading scientists in using new measurements in medical imaging, known as MRI biomarker indicators, to assess muscle changes in the boys. The lead researcher in the study, Dr. Krista Vandendorn, stated that this study provides supporting evidence for gene therapy in treating acute spinal muscular atrophy and confirms the value of using MRI biomarkers to evaluate available treatments for patients.
