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Spinal muscular atrophy, or SMA, is a serious genetic disease that affects motor neurons, the nerve cells responsible for controlling muscle movement. As these neurons are lost, muscles become progressively weaker and waste away. In the most severe forms of the disease, affected infants often do not survive beyond early childhood without treatment.
Several therapies are now available for SMA, including nusinersen, which helps increase production of the survival motor neuron (SMN) protein. While these treatments have improved outcomes for many patients, doctors still lack reliable molecular biomarkers that can accurately measure how well an individual is responding to therapy.
Researchers from the Ottawa Hospital Research Institute investigated whether extracellular vesicles could serve as biomarkers of disease progression and treatment response in people with SMA.
Extracellular vesicles, often called EVs, are tiny membrane-bound particles released by nearly all cell types. These particles carry proteins, RNA, lipids, and other biological molecules that reflect the condition of the cells that produced them. Because EVs can be detected in body fluids such as blood and cerebrospinal fluid, they are attracting growing interest as potential disease biomarkers.
The researchers followed a group of adults with SMA type 3 over a two-year period while they received nusinersen treatment. Blood plasma and cerebrospinal fluid samples were collected and analyzed to examine changes in extracellular vesicles and EV-associated proteins.
Before treatment began, individuals with SMA showed a trend toward higher concentrations of nanoparticles in both blood plasma and cerebrospinal fluid compared with healthy individuals. Following treatment with nusinersen, plasma nanoparticle concentrations decreased significantly.
The team also examined proteins commonly associated with extracellular vesicles. Several EV-related proteins differed between SMA patients and healthy controls. In addition, 21 EV-associated proteins changed significantly during the course of treatment.
These findings suggest that extracellular vesicles may provide valuable information about both disease status and therapeutic response. If validated in larger studies, EV-based biomarkers could help physicians monitor treatment effectiveness more accurately and potentially identify patients who may benefit from different therapeutic approaches.
The ability to track treatment response using a simple blood sample would represent an important advance for SMA management. While additional research is needed, extracellular vesicles continue to emerge as promising tools for understanding disease biology and supporting precision medicine approaches in neurological disorders.
