Spinal muscular atrophy (SMA) is a serious neurological disease caused by genetic changes present from birth. It most commonly develops in infancy or early childhood, causing muscle weakness that can affect motor development, including the ability to roll over and walk, as well as breathing, feeding, and swallowing. Without appropriate treatment, SMA can be life-threatening.

In recent years, new treatments have emerged that can help prevent the decline of motor function and give children with SMA the possibility of leading lives comparable to those of unaffected children. However, treatment is known to be less effective once symptoms have developed. This makes early detection and prompt initiation of treatment critically important.

In light of this, in November 2023, Japan’s Children and Families Agency adopted a policy to add SMA to the conditions covered by newborn screening, with the goal of eventually making publicly funded testing available nationwide.

Conventional screening tests for Spinal Muscular Atrophy (SMA) typically require a blood sample to be sent to a specialized external lab for analysis using advanced equipment. As a result, it often takes 1 to 2 weeks to get results, which can delay decisions about when to begin treatment.

To address this, Craif has developed a novel, rapid, and easy-to-use SMA screening kit that places minimal burden on newborns and provides on-site results within just 1.5 hours of birth.

Craif has now launched a clinical study in Japan using the kit in real-world newborn settings to evaluate effectiveness and usability. Plans are underway to further expand the study to a larger population.

This screening kit incorporates Craif's proprietary technology that enables the rapid detection of target nucleic acid sequences.
This technology is expected to serve as a versatile platform for screening not only for SMA but also for a wide range of other genetic and congenital disorders.