Gene Therapy – Can It Save Children Living with SMA?
The spinal muscular atrophy (SMA) is a rare genetic disease that can severely affect the quality of life of children. The disease primarily involves damage to the motor neurons in the spinal cord, leading to muscle weakness and even muscle atrophy. This process hinders the normal development of movement and, in severe cases, can cause respiratory muscle failure, necessitating mechanical respiratory support. Early diagnosis of SMA is crucial, as timely initiation of treatment can result in significant improvements in the quality of life for young patients.
Until now, the disease has been virtually untreatable, with the worst cases not allowing children to survive past their first year. However, the latest gene therapy procedures have revolutionized the treatment of SMA, providing opportunities to save children’s lives and significantly improve the disease’s progression.
What is SMA and how does it affect children?
Spinal muscular atrophy, or SMA, is a genetic disorder characterized by the gradual degeneration of motor neurons. This process leads to muscle atrophy, causing delays in the development of movement. In its most severe form, the respiratory muscles are also affected, which can lead to serious breathing difficulties. The normal development of children is often halted, and this disease is the leading genetic cause of death in childhood.
SMA particularly severely affects children born at an early age. Due to delays in diagnosis, many children do not reach 12 months of age, as the disease does not respond to conventional treatment once it has progressed. Delays in motor development, respiratory issues, and complications all contribute to the severe consequences of the disease. Early diagnosis and the initiation of treatment are essential to preserving and improving the quality of life for children.
Treatment options for SMA
The latest approaches to SMA treatment have revolutionized care. Currently, three different pharmacological therapies are available, aimed at halting the progression of the disease. The first option is administered via spinal injection, while the second option is an oral medication. The third is gene replacement therapy, which has become available in recent years.
The Bethesda Children’s Hospital, as one of the leading SMA centers in the country, has already provided such treatments to numerous children. Gene replacement therapy involves delivering the missing gene, enabling the cells to become functional again. During the therapy, children also receive supplementary medication to minimize side effects.
The effectiveness of the treatment is closely related to the timing of its initiation. The earlier the therapy begins, the more motor neurons and movement functions can be preserved. If the therapy is delayed, the treatment may only yield partial results, but it can still prevent the progression of the disease.
Benefits and effects of gene therapy
Gene therapy, as a new treatment option, has revolutionized the management of SMA. While previously we could only slow the progression of the disease, gene replacement therapy offers the possibility of changing its course. Thanks to these treatments, the average lifespan of children has significantly increased, and most of them now attend school, which was previously unimaginable.
After treatment, children’s motor conditions may improve, further enhanced by appropriate rehabilitation and development. Individual physiotherapy sessions help improve motor functions, allowing children’s abilities to continuously improve. For the best results, medication should be started as early as possible after birth, making early diagnosis essential.
Importance of SMA screening
Early diagnosis and treatment are crucial, which is why the newborn SMA screening program was initiated. This program allows for the early detection of the disease, enabling young children to receive necessary treatments in a timely manner. The screening process is continuously evolving, and the number of participating parents is increasing, enhancing the program’s effectiveness.
The results of the program so far are promising, as early diagnosis of SMA has already been achieved in several children through screening, allowing for rapid initiation of therapy. The quality of life for treated children can significantly improve, emphasizing the urgent need to continue the screening.
Therefore, SMA screening is not just an option but a life-saving measure aimed at preserving children’s health and ensuring early treatment of the disease.
