Dubai doctors explore cheaper spinal muscular atrophy screening tests for newborns

Early detection of children with the condition is seen as crucial to enable doctors to begin treatment without delay

Early detection of children with muscular spinal atrophy is seen as crucial as it allows doctors to begin early treatment. PA
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A team of researchers in Dubai are helping to develop a simpler and cheaper screening test for the early detection of spinal muscular atrophy, a debilitating condition that affects children.

The screening test could be used on newborns to detect whether 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 earlier, 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.

It's very important to screen newborns and identify affected ones as early as possible
Dr Ahmad Abou Tayoun, director of the Genomic Centre of Excellence at Al Jalila Children's Specialty Hospital in Dubai

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 can die from SMA in the first two years of their life.

“Currently, there are life-saving treatments including gene therapy,” he said.

“Therefore 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 required per child are not likely to cost much more than $20 each, which is crucial for screening programmes designed to be given 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 which can be accessible to sites with limited infrastructure.

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

Available soon

The test was designed and optimised at Asuragen, with further testing and optimisation taking place at Al Jalila Children's Specialty Hospital.

Although the test is not yet commercially available, Dr Abou Tayoun hopes that it will be released “very soon”.

The genetic factors that cause SMA are well understood, making it easier to screen and treat the condition. However, the study has been released as a “pre-print”, meaning that it has yet to be reviewed by other researchers.

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 which affects about half of those diagnosed, the child often dies from respiratory failure before reaching 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 or adults and cause less severe, but significant, symptoms.

Dr Abou Tayoun said that it was difficult for existing technologies to accurately detect variants in the genes.

“[The new test] can be used in any country, but given its accessibility and cost-effectiveness, it will democratise SMA screening and diagnostics to low and middle-income countries,” he said.

High price tag

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

One treatment, Zolgensma, is a form of 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.

“The drug costs are not affordable to all patients and insurance companies might not all cover the cost of therapies,” Dr Abou Tayoun said.

“This is a major limitation to making those life-saving treatments available to all affected patients. Several approaches, including philanthropy and crowdfunding, have been shown to help patients in need.”

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

There are other treatments, although these have to be given multiple times and cost hundreds of thousands of dollars a year.

Dr Abou Tayoun and other scientists at Al Jalila Children’s Specialty Hospital’s position released a study on the benefits of premarital screening for SMA.

They calculated that testing Emirati and Saudi Arabian couples to determine if they are at risk of having children with SMA could save tens of millions of dollars in treatment costs, as it could eliminate the risk of children being born with the condition.

If potential parents are carriers but do not have SMA themselves, in-vitro fertilisation and preimplantation genetic testing of embryos can ensure that the couple will not have a child with SMA.

Updated: February 29, 2024, 9:34 AM