Zolgensma Sparks Motor Improvement in Children with SMA in Brazil

Improvements in motor function among Brazilian children with spinal muscular atrophy

Introduction

Spinal Muscular Atrophy or SMA is a rare disease that affects the body’s motor neurons, leading to muscle weakness and atrophy. SMA often appears in infancy or early childhood and can be fatal if not treated. Fortunately, gene replacement therapy is an effective treatment option for SMA. Zolgensma (onasemnogene abeparvovec-xioi) is a gene therapy designed to treat children with SMA by delivering a working version of the SMN1 gene to the body’s cells. Recently, researchers studied the impact of Zolgensma on Brazilian children with SMA.

The Study

The researchers conducted an observational study that included 41 Brazilian children with SMA who were treated with Zolgensma at five different centers in Brazil. Most of the children had SMA type 1, and some had SMA type 2. The patients were followed up for at least six months after treatment, with 24 of them followed for at least one year. The researchers found that the gene therapy was generally well tolerated and led to significant improvements in motor function for most of the children.

Results

The researchers used the CHOP-INTEND score, a standardized measure of motor function, to measure the effects of gene therapy on the children. They found that average CHOP-INTEND scores increased by more than 20 points in the year after gene therapy, indicating improvements in motor function. Additionally, most patients hit new motor milestones, such as being able to sit with or without support, reaching head control, standing with support, walking with support, and walking alone.

The improvements in motor function tended to be more significant in patients who had higher CHOP-INTEND scores before receiving the gene therapy and in patients with type 2 SMA. Younger patients also tended to have greater improvements in motor function than older patients. However, even patients older than 2 years of age showed a significant gain in motor function following gene therapy.

Safety

The researchers noted that safety data for the patients treated with Zolgensma were generally in line with the known safety profile of the gene therapy. Most children experienced mild side effects such as fever, poor appetite, nausea, vomiting, and elevated liver enzymes. One child had an allergic reaction, and one child experienced thrombotic microangiopathy, a blood disorder that can cause kidney damage. This side effect was successfully resolved with supportive care.

During and after gene therapy, patients receive corticosteroids to help lower the risk of problematic reactions to the gene therapy by reducing immune system activity. The duration of corticosteroid treatment varied widely, from about two months to more than a year, with older patients requiring longer treatment. One child developed an infection in the months following gene therapy that ultimately proved fatal. The researchers noted that the use of immune-suppressing corticosteroids may have contributed to the severity of the infection.

Conclusion

The researchers concluded that the data from the study reinforce previous data in the literature that Zolgensma is effective in treating SMA. The study is particularly significant because it demonstrates the benefits of gene therapy in a cohort from Brazil. While the gene therapy was generally well-tolerated, researchers noted that close monitoring is necessary for patients who may be at risk from infections.

Keywords

Zolgensma, gene therapy, spinal muscular atrophy, motor function, CHOP-INTEND score, safety, corticosteroids.

Originally Post From https://smanewstoday.com/news/zolgensma-motor-gains-sma-children-brazil-study/