Spinal muscular atrophy is a genetic disease with life threatening implications. In order to create effective therapies, doctors need the ability to target the root genetic mutation and stop it. Scientists at the California Institute for Biomedical Research (Calibr) and The Scripps Research Institute recently discovered a potential method for doing just that. Keep reading to learn more about this development or follow their research in the Proceedings of the National Academy of Sciences and at scipps.edu.
Spinal muscular atrophy affects roughly one in every 10,000 people. Most cases of spinal muscular atrophy are caused by a mutation on the gene referred to as SMN1. This mutation leads to a loss of motor neurons in the spinal cord and brain stem. Several types of spinal muscular atrophy exist depending on the severity of the condition and age at which it was developed. In cases involving infants, the disease leads to muscle weakness and breathing difficulties which often result in death before the age of two.
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The new research by Calibr and Scripps scientists could be a big step forward in the development of drugs against spinal muscular atrophy. “In fact, if we can learn more about the drugs in the pipeline for genetic diseases,” says Kristen Johnson, PhD, a principal investigator at Calibr and one of the study’s co-lead authors, “we can learn more about the diseases themselves.”
Treatment for spinal muscular atrophy was sparse until recently. A drug called nusinersen (Spinraza) recently became available. Now scientists work to create even more effective therapies. One candidate is a drug known as RG-7916. RG-7916 is a small molecule treatment currently in phase 2 clinical trials. Johnson and her colleagues examined drugs like RG-7916 in their study to better comprehend their mechanisms.
The researchers discovered that RG-7916 affects a specific process of the gene production process. By targeting this specific process (known as RNA mis-splicing), RG-7916 effectively allows for the creation of functioning proteins usually missing or incomplete in spinal muscular atrophy patients.
Johnson describes this process of understanding drug function as critical for treating the right problems within the right patient populations. It allows allows doctors and manufacturers to better prepare for potential side effects.
The number of drugs that function similarly to RG-7916 are few. By further researching them, and understanding they way these drugs work, however, Johnson believes researchers can shape the future towards a better treatment.
