Dubai team’s test makes spinal muscular atrophy screening cheaper and easier

Researchers in Dubai are helping develop a simpler and cheaper screening test for early detection of spinal muscular atrophy – a debilitating condition that mostly affects children.

The screening test could be used on newborns to detect whether their genetics mean they have the disease.

Early detection of children with spinal muscular atrophy – commonly known as SMA – is seen as crucial as it allows doctors to begin treatment without delay, minimising symptoms.

Researchers at Al Jalila Children’s Specialty Hospital in Dubai, along with scientists at US biotechnology company, Asuragen, released a study on the cost-effective test last week.

Dr Ahmad Abou Tayoun, director of the Genomics Centre of Excellence at the hospital and an author of the study, said that without treatment, children could die from SMA in the first two years.

“Currently, there are life-saving treatments, including gene therapy,” he said. “It’s very important to screen newborns and identify affected ones as early as possible to ensure timely access to treatment.”

With the new test, the materials for each child are not expected to cost much more than $20 – crucial for plans to give screening to all newborns.

“The advantage of this new test is that it’s not only cost-effective, but it’s also highly scalable and more comprehensive compared to existing methods,” Dr Abou Tayoun said.

“It doesn’t require major capital investment, as it uses a hand-held device that can be accessible to sites with limited infrastructure.

“The cost-effectiveness, scalability, accuracy and accessibility promises to enhance the detection of affected newborns.”

The test was designed and optimised at Asuragen, with further testing at Al Jalila Children’s Specialty Hospital.

Dr Abou Tayoun hopes the test will be commercially available “very soon”.

The study has been released at the moment as a “pre-print”, which means it has yet to be reviewed by peers.

The genetic factors that cause SMA are well understood, making it easier to screen and treat the condition. SMA affects motor neurons – nerve cells that send messages to the muscles – and results in progressive muscle weakness.

It can make walking impossible or difficult and also affects swallowing and breathing.

In type 1, the most severe form that affects about half of those diagnosed, the child often dies from respiratory failure before the age of two.

Even children affected by the less severe type 2 may be unable to walk as a result.

Other types emerge in older children and adults.

But while the test offers hope that more children with SMA can be diagnosed early, treatment costs remain high.

One treatment, Zolgensma, is a gene therapy in which an effective form of the SMN1 gene is delivered to motor neurons. It has to be administered only once and is highly effective. However, the single treatment reportedly costs about $2 million.

Al Jalila Children’s Specialty Hospital is one of the medical centres to have administered Zolgensma.

Materials for each child are not expected to cost much more than $20 – crucial for plans to give screening to all newborns