New Drug Shows Promise In Helping Children With Rare Muscle Disorder Walk Again

A very rare genetic disorder called spinal muscular atrophy (SMA) is often the cause of early death in young patients. However, a new experimental medicine designed especially for children with this fatal muscle disease showed promising results in a recent trial, it even made it possible for children to walk again.

According to the New Scientist, experts also said that the condition is different in every patient. It is believed that children with the most devastating form of SMA rarely survive past the age of 2. Children with SMA lose the ability to sit straight, move their limbs freely or even swallow by themselves.

However, just recently, a few parents post videos of children given an experimental drug for treating spinal muscular atrophy and so many people, including experts were astounded to see how it worked for them. Francesco Muntoni at University College London watched the video himself and said, "TO SEE children who would have been dead sitting and standing is something I never thought I would see."

The drug that is getting all the hype is nusinersen which was mainly created to treat spinal muscular atrophy (SMA), a rare neuromuscular disorder that is characterized by loss of motor neurons and progressive muscle wasting. Unfortunately, the condition is inherited and it often leads to early death of young children since there have been no drugs approved for SMA at the moment.

In these therapies, scientists use a specially engineered piece of DNA to target certain RNAs (protein recipes) and destroy the proteins produced. However, the major problem is getting these DNA fragments to last inside the body and actually enter the cells, but nusinersen appears to be primarily focused in attempts to find a solution, reported The Vanguard.

However, the downside of antisense treatments is that it requires repeat doses at least every few months, and often for life. The drugs have to be injected directly into the cerebrospinal fluid, which flows around the brain and spine. The procedure called a lumbar puncture can cause side effects such as headaches and back pain.

Science Alert also reported that the trial of nusinersen was discontinued in August when experts found evidence that it was effective and giving placebo drugs to other participants involved in the study would make it unethical. Although the full results haven't yet been published, what has been clearly shown so far of this "antisense" therapy suggests the biggest obstacle, how to deliver such therapies, had been overcome (at least in disorders that affect the nervous system).

While there is still no proof that nusinersen is the answer to spinal muscular atrophy, evidence in studies with mice showed that once the drug is injected, it can spread throughout the brain and the spinal cord. It is also important to note that if the final result of the trial continues to maintain its promising effects, it could give hope for those with similar conditions like Huntington's disease, motor neuron disease, and Alzheimer's.