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New Experimental Drug likely to have potential to Improve quality of life for Infants suffering from a rare Muscle Disease

Spinal muscular atrophy is a genetic disease that affects around one in every 11,000 births

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Representational image. Pixabay

New York, December 7, 2016: A new experimental drug may have the potential to improve the quality of life for infants suffering from a rare, lethal neuromuscular disorder, US researchers have found.

Spinal muscular atrophy is a genetic disease that affects around one in every 11,000 births.

It affects the nerve cells in the spinal cord that connect to the muscles, causing them to waste away resulting in progressive muscle weakness and difficulty in breathing and eating.

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Infantile-onset, which is the most severe form of the disease, occurs from a defect in the gene called SMN2, responsible for producing survival motor neuron (SMN) — a protein critical for normal cell function.

It affects babies under the age of six months. Less than a quarter of those diagnosed with the disease will live up to two years without major feeding and breathing support.

The study — a phase 2 trial involving 20 babies with infantile-onset SMA — showed the treatment with the drug nusinersen could increase the production of SMN protein by modifying a closely-related gene to compensate for the genetic defect.

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Apart from being safe for use in babies as young as five-week-old, nusinersen was also found to halt progression of the disease and in many cases improve motor function.

In addition, nusinersen sometimes enabled children to gain skills such as sitting, rolling over, and standing — usually not seen in SMA Type 1 — as well as improved survival without depending upon the continuous use of a ventilator, the researchers explained.

“With nusinersen, these infants are not only living longer, but living better,” said lead author Richard S. Finkel from Nemours Children’s Hospital in Florida, US.

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“SMA is no longer a death sentence for infants. This treatment is by no means a cure, but it is more than we’ve ever been able to offer these families before,” Finkel added, in the paper published in The Lancet. (IANS)

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High Level Of Insulin in Infants May Rise Chances Of Brain Damage

"One of the problems facing clinicians is that it's really difficult to predict which babies will have problems after surgical treatment," said Karen Cosgrove, from the varsity.

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Spreading focal lesions are generally larger and spread outwards into areas of healthy cells, while isolated focal lesions, have a capsule around them that keeps the diseased cells separate from healthy cells. Pixabay

Babies born with abnormally high levels of insulin are at the risk of suffering permanent brain damage and life-long disability, finds a study that showed it’s possible to predict when and how the condition may affect the child in the long-term.

The generally rare condition, called congenital hyperinsulinism, can also be as common as cystic fibrosis in children born into communities where cousins marry.

So far, scientists understood that there were two main subtypes of the disease known as diffuse — affects the entire pancreas — and focal — affects just one area of the organ.

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In contrast, in infants with isolated lesions, the disease was diagnosed later and surgery to remove the lesion was less complicated. Pixabay

In contrast, in infants with isolated lesions, the disease was diagnosed later and surgery to remove the lesion was less complicated.

The new study, led by a team from the University of Manchester in the UK, showed that focal CHI can be further categorised into two types — spreading focal lesions and isolated focal lesions.

Spreading focal lesions are generally larger and spread outwards into areas of healthy cells, while isolated focal lesions, have a capsule around them that keeps the diseased cells separate from healthy cells.

For the study, published in the Frontiers in Endocrinology journal, the team investigated the cases of 25 infants with focal CHI to see how the two types of lesions influenced their long-term outcomes.

They found babies with spreading focal lesions suffered more severely from the disease and were diagnosed earlier. These infants were more likely to suffer brain damage, which permanently affected their development, learning and behaviour.

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The generally rare condition, called congenital hyperinsulinism, can also be as common as cystic fibrosis in children born into communities where cousins marry. Pixabay

In contrast, in infants with isolated lesions, the disease was diagnosed later and surgery to remove the lesion was less complicated.

These data help to explain why newborn babies diagnosed with the same disease may go on to have very different outcomes and could influence the way clinicians choose to manage each new case of CHI.

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“One of the problems facing clinicians is that it’s really difficult to predict which babies will have problems after surgical treatment,” said Karen Cosgrove, from the varsity.

“Our data gives some important clues that will help clinicians to know how much extra care each baby is likely to need,” Cosgrove said. (IANS)