Spinal Muscular Atrophy: Gene Therapy Gives Baby Boy a Second Chance

According to a story from bbc.com, five month old Arthur was born with the rare disease spinal muscular atrophy (SMA). He is one of the first people in the UK to be treated through the NHS with Zolgensma, a gene therapy that is the most expensive medicine in the world. An arrangement with the manufacturer of the therapy, Novartis, allows dozens of newborns diagnosed with the disorder to be treated every year. 

About Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. Without prompt treatment, the disease is lethal in many cases. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. The most effective treatment currently available for the disease is called Zolgensma. To learn more about spinal muscular atrophy, click here.

A Chance at Life

Though he is not even six months old, Arthur already shows signs of difficulty with lifting his head and moving his limbs. Zolgensma should prevent his condition from progressing any further. Reece Morgan, Arthur’s father, says that the situation has been a roller coaster:

“We don’t know, but we’re just going to try as best as we can to give him everything he possibly needs. Our hope is that he can have the best possible life in terms of his movement.”

Using a harmless viral vector for transportation, a corrected version of the SMN1 gene is delivered into the nuclei of motor neuron cells. This should halt the destruction of these cells that occurs during the course of the disorder. Arthur is getting treated at the Evelina London Children’s Hospital, one of four locations in the UK that currently administer Zolgensma.

Despite the high price, the NHS covers the drug because of its potential for long-lasting or even permanent benefit for patients. The next step for improving outcomes for spinal muscular atrophy in the region is to get the disorder added as part of routine newborn screening. This could allow therapy to begin earlier before any noticeable symptoms show up.

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