Sysmex obtains manufacturing, marketing approval for IRD panel system

Sysmex Corporation announces that on May 31, 2023, it obtained manufacturing and marketing approval in Japan for its PrismGuide IRD Panel System that obtains information about the causative genes of inherited retinal dystrophy (IRD). Its approval marks Japan’s first gene panel testing system for IRD.

IRD is a generic term for a series of inherited progressive diseases in which retinal dysfunction is caused by genetic mutations, including retinitis pigmentosa, Usher syndrome, and macular dystrophy, which are designated intractable diseases in Japan. Many IRD patients experience symptoms beginning at an early age such as difficulty seeing in dim light or a narrowing of their visual field, with some cases leading to blindness.

Severity and progression of symptoms for IRD vary depending on the causative gene. In recent years, gene therapy targeting the causative genes of IRD, which was previously considered untreatable, has been approved in Europe and the United States, and its development is progressing in Japan as well, indicating the emergence of new treatment possibilities. Thus, more personalized diagnostics for IRD based on causative gene information are becoming increasingly important in complementing conventional methods that depend on clinical findings.

Based on a comprehensive collaboration agreement signed in February 2020, Sysmex Corporation began jointly developing the System with Kobe City Eye Hospital. In September 2021, “genetic diagnosis for inherited retinal dystrophy using a genetic panel testing system” was approved for Advanced Medical Care B in Japan, and the System had been evaluated for its clinical performance and its effectiveness in genetic counseling at Kobe City Eye Hospital and Tokyo Medical Center.

The newly approved System, a combination medical device comprising a reagents kit and an analysis program, is intended for use in obtaining comprehensive genome profiles from the blood of the patients diagnosed or suspected of having IRD to identify 82 types of genes causing IRD. Then, based on the analysis results obtained via the System, combined with subjective symptoms, clinical symptoms, and other relevant test results, each IRD patient’s causative gene is comprehensively determined by an expert panel at a medical institution that meets the requirements stipulated by relevant academic associations.

If a treatment plan is determined based on an identified causative gene, a support plan for low vision care is mapped out, and genetic counseling is provided; the quality of life of patients and their families will be enhanced significantly, as they may be able to not only start to receive appropriate treatment as soon as possible, but also prepare themselves for life events such as entering school or employment, taking into consideration their risk of developing IRD or predicting a progression of its symptoms.

In order to expand opportunities for patients to receive this testing, we plan to work towards early market introduction and its coverage by Japan’s national health insurance.

Sysmex will continue its efforts to create high-value testing and diagnostic technologies that support healthcare optimized for individual patients in order to improve the lifetime healthcare journey of each patient with IRD and their families.
MB Bureau