News

This month has seen a surge of publications focused on SMA treatments, with a trend towards optimizing various aspects of nusinersen treatment. Research has also continued in areas related to molecular mechanisms of the disease, clinical manifestations, and management protocols.  Here’s a roundup of the latest in SMA research…

March has kicked off with new SMA publications largely focused on understanding the disease at the cellular and molecular levels. New reviews on progress in SMA treatments have also been released, as has new patient-focused information including new data on carrier frequency. Understanding SMA The clinical spectrum of BICD2 mutations.1…

February wrapped up with a surge of data on SMA, including novel investigations into how combinatorial therapies may provide new advantages to those with the disease. More information on how nusinersen impacts patients has also become available, as have new findings related to newborn screening and the genetics underlying SMA.

Every patient with SMA has different abilities and deficits as well as different ways of transportation. Most are unable to walk independently, therefore require assistance of some sort. Michael, our patient with SMA, has a power chair that he uses to navigate around. He has his controls on the right…

Perhaps the biggest SMA news this month has been the success of Roche’s Sunfish trial, but fundamental research, such as those into the mechanisms of the disease and the implications of certain interventions, continue.  Below is a roundup of the latest news and literature on SMA. Understanding SMA Survival…

Research on SMA continues to forge ahead in 2020, with new results in from Roche’s latest investigation into its oral SMA drug, risdiplam. New tools for screening are being revealed as legislative changes are pushing more and more toward requiring infants born in the U.S. to be screened for SMA.

Patients with SMA often spend the majority of their time either in their wheelchair or in their bed. Since they can be fairly limited to these two places, it is important to increase their independence within those areas. Although my patient with SMA, Michael, will most likely not be able…

New SMA research and news related to newborn screening and the upcoming FDA evaluation of a new drug have kicked off 2020. Below is a roundup of the latest on SMA. Understanding SMA Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy.1  This paper describes a study…

Understanding SMA Stasimon contributes to the loss of sensory synapses and motor neuron death in a mouse model of spinal muscular atrophy.1 In this paper, the authors elucidate a mechanism of the motor neuron degeneration that occurs in SMA. Specifically, the authors found that dysfunction of Stasimon, a protein of…

2019 was a year of significant progress in our understanding of SMA and how to best address it – clinically and otherwise. Below is a roundup of some of the final SMA data shared in late 2019. Understanding SMA The classical complement pathway mediates microglia-dependent remodeling of spinal motor circuits…