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Sysmex Obtains Manufacturing and Marketing Approval for its PrismGuide™ IRD Panel System as Japan’s First Gene Panel Testing System for Inherited Retinal Dystrophy
- Contributing to Improving the QOL of Patients by Supporting Personalized Diagnosis Based on Causative Genes -
Sysmex Corporation (HQ: Kobe, Japan; President: Kaoru Asano) announces that on May 31, 2023, it obtained manufacturing and marketing approval in Japan for its PrismGuide IRD Panel System (the “System”) that obtains information about the causative genes of inherited retinal dystrophy (IRD).1 Its approval marks Japan’s first gene panel testing2 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 therapy3 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 B4 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 device5 comprising a reagents kit and an analysis program, is intended for use in obtaining comprehensive genome profiles6 from the blood of the patients diagnosed or suspected of having IRD to identify 82 types of genes causing IRD7. 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 panel8 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 care9 is mapped out, and genetic counseling10 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 journey11 of each patient with IRD and their families.
Product Overview
| Generic name |
Germline gene variants analysis set (for use in causative gene testing)
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| Product name | PrismGuide™ IRD Panel System | |
| Registration number in Japan | 30500BZX00129000 | |
| Intended use or effect |
To obtain information of the disease causative genes from patients diagnosed or suspected of having IRD
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| Manufactured and distributed by | Sysmex Corporation | |
| Target market | Japan |
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| Conditions of approval |
A company must take necessary measures to ensure that the System is used by doctors having sufficient knowledge and experience related to IRD in compliance with the subjects of the testing and operational protocols based on the most recent guidelines of relevant academic associations, at the healthcare institutions that have treatment systems based on IRD gene panel testing.
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References
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March 5, 2020 press release: "Sysmex and the Kobe City Eye Hospital Sign a Comprehensive Collaboration Agreement – Reinforcing Collaboration toward the Realization of Genomic Medicine in the Area of Ophthalmic Disorders”
September 3, 2021 press release: “Approval of ‘Genetic Diagnosis and Counseling for Inherited Retinal Dystrophy’ Using Gene Panel Testing System for Advanced Medical Care B”
June 30, 2022 press release: “Sysmex Files for Manufacturing and Marketing Approval for Genetic Panel Testing System for Inherited Retinal Dystrophy”
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Terminology
| 1 |
Inherited Retinal Dystrophy (IRD):
A hereditary progressive disease presumed to be caused by a gene mutation. Several diseases that present similar symptoms are collectively referred to as IRD. Its main symptoms include night blindness (difficulty seeing in dim light), tunnel vision (a narrowing field of vision), and progressive loss of vision, which can lead to a complete loss of vision in severe cases. It is estimated that one out of every 4,000 to 8,000 people develops a Retinitis Pigmentosa (a designated intractable disease in Japan), the most common IRD subtype.
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| 2 |
Gene panel testing:
A testing method for simultaneously detecting mutations of several related genes.
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Gene therapy:
A treatment method for diseases caused by genes that are defective or do not function normally, in which therapeutic genes are introduced into patient cells to be expressed in the cells, supplementing defective genes with normal genes and thereby achieving therapeutic effects (in vivo gene therapy).
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| 4 |
Advanced Medical Care B:
Advanced Medical Care refers to novel, promising medical technologies whose efficacy, safety, and other parameters have yet to be definitively established, and are designated as such by Japan's Ministry of Health, Labour and Welfare to evaluate their potential in order to determine whether they should be covered by national health insurance in the future. As an exception, it is allowed to combine payment for new technologies that have not yet been covered by public health insurance and self-pay medical service under the existing public health insurance system (mixed payment). Provision of Advanced Medical Care technologies is limited to hospitals and clinics that meet the institute criteria accepted for each designated technology.
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Combination medical device:
A combination of two or more types of treatment items (pharmaceuticals, medical devices, or regenerative medicines) constituting a medical device to be marketed. The System, comprising a reagents kit and an analysis program, is used in combination with the NGS product, MiSeqDx System (Medical device approval number in Japan: 13B1X10303000002), for which Illumina Inc. is responsible for manufacturing and marketing in Japan.
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Comprehensive genome profiles:
Information obtained by simultaneously analyzing mutations of multiple genes of significance to diagnosis.
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Reference: The list of major genes that can cause IRD published by Japanese Retina and Vitreous Society https://www.jrvs.jp/guideline/index.html (Japanese only)
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Expert panel:
A body at a medical institution that meets the requirements stipulated by relevant academic associations. It is composed of experts in diverse fields, including those involved in IRD (ophthalmologists), genetic medicine (clinical geneticists), and molecular genetics and genome medicine. Panel members discuss and make proposals concerning the significance of the results of gene panel test results, treatment methods, and low vision care policies.
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| 9 |
Low vision care:
A generic term for support to those who experience any difficulties in their daily lives due to vision problems, meaning a wide range of support types, from medical to educational, vocational, social, welfare, and psychological care.
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Genetic counseling:
According to the Japan Medical Association, genetic counseling is a process that helps people adapt to diseases involving genes based on an understanding of their medical, psychological, and familial implications. Such counseling is provided to promote informed choices (knowledge-based decision making) for, and adaption to, relevant risks and conditions.
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| 11 |
Sysmex is proposing the new concept of a “healthcare journey.” We view the various healthcare-related events a person experiences throughout their lives (life stages), along with the corresponding process this involves (such as treatment at healthcare institutions), as a “journey.” Through various collaborations, we aim to offer new value to make each individual’s healthcare journey better, and to grow as an essential presence in society.
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Sysmex has identified the “Creating new value for a healthy society” as one of the issues that we prioritize (materiality), and we are working toward the resolution of medical issues through innovation. Going forward, Sysmex is committed to supporting the universal desire of people to live long and healthy lives, and contributing to the realization of optimal medical care for each individual through our unique technology and solutions.
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- The purpose of this news release is to communicate our business activities to our stakeholders. It may or may not include information about Sysmex's products or their research and development, but this is not intended for promotion, advertising or medical advice. The information contained in this news release is current as of the date of the announcement but may be subject to change without prior notice.