A Human-Based Platform To Study ALS and Speed Drug Development

Study in a Sentence: Researchers demonstrated how induced pluripotent stem cells and primary human skeletal muscle from patients with amyotrophic lateral sclerosis (ALS) can be integrated into a functional neuromuscular junction (NMJ) disease model to study disease mechanisms and rapidly assess new treatments for ALS, potentially speeding up the drug development process. 

Healthy for Humans: ALS is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, and over time causes the loss of muscle control and eventual death. Between 14,000 and 15,000 people in the United States are diagnosed with ALS, with about 5,000 new cases every year. Currently, there is no cure for ALS and no effective treatment to halt or reverse the progression of the disease. This study revealed that while different genetic variants associated with ALS cause distinct clinical features, all variants have the common point-of-origin deficit at the NMJ, which researchers can use to study patient-specific characteristics of ALS for personalized medicine. 

Redefining Research: Numerous biological model systems to study ALS have been developed using animals, however, clinical pathologies are often not recapitulated in animals and the translational failure between preclinical models and clinical therapies is tremendous. This functional, human-based alternative can be patient-specific, is relevant to all forms of ALS, and can be used to further understanding of disease etiology and drug testing.