Asuragen’s Diagnostic Test for SMA Approved for Use in Europe

Patricia Inacio, PhD avatar

by Patricia Inacio, PhD |

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EU approval

Asuragen’s diagnostic test for the analysis of genes associated with spinal muscular atrophy (SMA) — called AmplideX SMA Plus Kit — was given the European CE mark, approving it for commercial use, the company announced.

The designation means the AmplideX kit complies with the European Union’s safety, health, and environmental protection requirements, and the product can be sold throughout the European Economic Area (EEA).

SMA is caused by mutations in the SMN1 gene, which encodes the SMN protein critical for motor neuron survival. It is an autosomal recessive disorder, which means that for a child to develop SMA they must inherit a copy of a mutated gene from both parents.

However, people carry extra copies of another gene, called SMN2, that also produces the SMN protein but in very low functional amounts. Still, the number of copies of this second gene often affects the course of SMA, with more copies associated with less severe disease.

The AmplideX SMA Plus Kit  — called the AmplideX PCR/CE SMN1/2 Plus Kit on the company’s website — quantifies the number of copies of the SMN1 and SMN2 genes, and detects variants associated with SMN1 gene duplication. This allows the identification of “silent carriers” — people who are asymptomatic for the disease but can pass on a faulty gene to their children — as well as a child’s SMN2 copy number.

According to Asuragen, the kit allows for the most comprehensive analysis of SMN1 and SMN2 genes compared to other commercially available kits. It requires a small amount of DNA (20 nanograms) and is fast, requiring less than one hour of hands-on work and carrying a total testing time of four hours.

“Our laboratory has many years of experience testing various methodologies for the quantification of SMN1 and SMN2, but the AmplideX SMA Plus Kit has now set the bar for speed and simplicity,” Henny Lemmink, a clinical laboratory geneticist at the Department of Genetics of UMC Groningen, said in a press release.

“By incorporating reporting of silent carrier risk as well as SMN2 disease modifier presence all from the same reaction, there is no comparison on the market for getting so much information so quickly and promises to become the first choice in diagnosis and carrier screening of SMA,” Lemmink added.

Newborn screening for SMA is rising, following recommendations by the American College of Obstetrics and Gynecology and the approval of two disease-modifying therapies for this disease: Novartis‘ gene therapy Zolgensma, and Biogen’s Spinraza. A third potential such therapy, risdiplam by Roche and Genentech, is under consideration for approval by the U.S. Food and Drug Administration.

“Given the emergence of novel treatments and interventions for SMA, the demand for fast and accurate test results is greater than ever,” said Matthew McManus, the CEO of Asuragen.

“With the AmplideX SMA Plus Kit, laboratories how have a simple and scalable solution to deliver meaningful results in a fraction of the time compared to alternative methods,” he added.