According to a story from Roche, the pharmaceutical company recently released new data from its ongoing clinical trial, which is testing the company’s investigational product risdiplam. In this study, the drug is being tested as a treatment for the rare neuromuscular disorder spinal muscular atrophy. Overall, this new data appears to be encouraging, with improvements seen in infants with spinal muscular atrophy type 1.
About Spinal Muscular Atrophy
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.
The Study So Far
In the study, the researchers found that six of 14 infants, or 43 percent, were able to sit after receiving treatment. Of these six, three were able to sit unaided after a treatment period of eight months. 43 percent of the infants were able to hold up their heads, 50 percent were able to kick, and 29 percent were able to roll on their side. This activity indicates that babies treated with risdiplam were able to achieve developmental milestones more quickly than the normal progression of the disease would allow. In fact, patients with type 1 SMA would often see declines in muscle strength and movement during this stage.
Promising Data
Only two infants in the study succumbed to their disease. In addition, none of the patients in the study lost their ability to swallow or have required ventilation or other breathing assistance. While the study has yet to be completed, the information available so far suggests that risdiplam could be a viable treatment option for spinal muscular atrophy type 1.
