Spinal Muscular Atrophy (SMA) is a rare, genetic neuromuscular disorder that results in the progressive loss of muscle function and eventually leads to complete paralysis.

It affects around one in every 11,000 newborns worldwide and is the leading genetic cause of infant mortality. There is currently no cure for SMA, and treatment options are limited.

However, a recent study published in the New England Journal of Medicine has shown that a new dosage regimen for a drug called Nusinersen can lead to significant improvements in kinetic function in spinal muscle atrophy patients.

The Study

The study was conducted by a team of researchers led by Dr. Richard Finkel, the Chief of Neurology at the Nemours Children’s Hospital in Orlando, Florida.

It involved 126 SMA patients, aged between 2 and 12 years, who received four injections of Nusinersen over the course of 64 weeks.

The dosage regimen used in the study involved a higher dose of Nusinersen than the previously approved dosage. The drug was also administered more frequently, with injections given every four months instead of every six months.

The researchers evaluated the patients’ kinetic function using the Hammersmith Functional Motor Scale-Expanded (HFMSE), which measures muscle function in SMA patients.

The HFMSE scores of the patients were assessed at the beginning of the study and at the end of various phases of treatment.

The Results

The study found that the patients who received the higher dose of Nusinersen and more frequent injections showed significant improvements in their kinetic function compared to those who received the previously approved dosage.

In fact, a total of 57% of the patients who received the higher dose of Nusinersen showed an improvement in their HFMSE scores by at least 5 points, while only 26% of the patients who received the previously approved dosage showed the same level of improvement.

The researchers also reported that the new dosage regimen was safe and well-tolerated by the patients. No serious adverse events related to the treatment were observed during the study.

Implications for Treatment

The results of the study provide new hope for SMA patients and their families, as they suggest that the new dosage regimen for Nusinersen can lead to significant improvements in kinetic function.

This is particularly significant given that there are currently no other effective treatment options for SMA.

The FDA has since approved the new dosage regimen for Nusinersen, which means that SMA patients can now receive this treatment option.

However, the high cost of the drug remains a concern for many patients and their families, as it can reach up to $750,000 for the first year of treatment.

Conclusion

SMA is a devastating disorder that affects thousands of people worldwide.

However, this recent study offers new hope for SMA patients and their families, as it suggests that the new dosage regimen for Nusinersen can lead to significant improvements in kinetic function. This development represents a significant step forward in the fight against SMA and highlights the importance of ongoing research and innovation in the development of new treatments for rare disorders.