According to a story from globenewswire.com, the biotechnology company Biogen recently released data from an open label study that was testing the company’s spinal muscular atrophy drug nusinersen (marketed as SPINRAZA) in patients with the late-onset form of spinal muscular atrophy. The results from this study were mostly positive and suggested that the drug could reverse motor function loss in late-onset patients and could help stabilize disease progression, leading to improve quality of life outcomes for patients.
About Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. In many cases, the disease is lethal. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. There are a variety of management strategies for spinal muscular atrophy, but it is still usually fatal in its most severe forms. To learn more about spinal muscular atrophy, click here.
SPINRAZA and Spinal Muscular Atrophy
Treatment with SPINRAZA is typically recommended to begin as soon as possible in patients that are diagnosed with spinal muscular atrophy. This is particularly important in patients with severe forms of the disorder that cause symptoms very early in life. However, the information from this study suggests that patients with the less severe types can also see substantial benefit from the use of SPINRAZA. This study was conducted over a three year timespan, giving scientists greater insight into the long term benefits of treatment.
About The Study
The study included a total of 28 patients with spinal muscular atrophy that ranged in age from five years to 19 years. Changes in motor function were monitored using three different measures, including the Six-Minute Walk Test, the Hammersmith Functional Motor Scale-Expanded, and the Upper Limb Module. The patients in the study had either spinal muscular atrophy type 2 or type 3, which tend to cause symptoms at ages of six months or greater than one year of age, respectively. Patients in the study saw improved scores in all of the motor function measures.
The original study was published in the scientific journal Neurology.