New Treatment Could Be Game Changer For Patients With Spinal Muscular Atrophy

Category: Spine | Author: Stefano Sinicropi

Spine Study

Promising research out of the University of Oxford may soon change the way we treat infants with the debilitating condition spinal muscular atrophy.

As we’ve talked about on the blog before, spinal muscular atrophy is a condition caused by the body’s inability to produce what’s known as the survival motor neuron protein. The reason they can’t produce this protein is because their body lacks a gene called survival motor neuron 1 (SMN1). However, these individuals often have a nearly identical gene called survival motor neuron 2 (SMN2). It should come as no surprise that most of the research aimed at treating spinal muscular atrophy focuses on getting the SMN2 gene to mimic some of the function performed by the missing SMN1 gene in order to help to body produce the correct levels of protein.

Unfortunately, most of the current treatments involving altering the SMN2 gene only work by performing a lumbar puncture to inject special splice-switching oligonucleotides, or SSOs. The lumbar puncture procedure carries its own set of risks. Moreover, lumbar punctures aren’t always an option for patients with spinal muscular atrophy, because the condition is often coupled with other problems like scoliosis, which make it impossible to safely administer the lumbar injection. However, new hope may be just around the corner.

SMA Treatment Breakthough

The reason a lumbar puncture needs to be performed in order to administer the SSOs is because they can’t cross the blood-brain barrier into the central nervous system. But new research is exploring delivering the SSOs through a special peptide, called Pip6a-PMO.

“Pip6a is highly effective at delivering SSOs to a wide variety of tissue in the body,” said Dr. Suzan Hammond, who worked on the study. “We have confirmed that it can also get them into the brain and spinal cords in young and adult mice.”

Researchers tested the peptide on mice with SMA and uncovered some fascinating results. At just a week old the mice given the peptide were noticeably heavier and growing faster than the control group. Mice in the peptide group also lived much longer on average than the untreated group. The average lifespan of the untreated mice was just 12 days, while all mice in the peptide group lived at least 200 days, and the average treated mouse lived for 457 days, which is 38 times longer than the untreated group.

Imagine if this study could be replicated on a human population? That’s just what researchers plan to do, as they hope to embark on a two-year human study beginning in 2017. We’ll certainly keep an eye out for those study results.

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