Announcement of the establishment and fully operational of the Diagnostic Consortium to Advance the Ecosystem for Hereditary Angioedema

To the press

May 12, 2021
Diagnostic Consortium to Advance the Ecosystem for Hereditary Angioedema

Diagnostic Consortium to Advance the Ecosystem for Hereditary Angioedema
 (DISCOVERY)
Established and now fully operational.

　Diagnostic Consortium to Advance the Ecosystem for Hereditary Angioedema (DISCOVERY) was established on Monday, February 8, 2021, with the aim of improving the early diagnosis and diagnosis rate of hereditary angioedema (HAE) in order to save patients suffering from undiagnosed symptoms. We are pleased to announce that the consortium will be fully operational from HAE Disease Awareness Day on Sunday, May 16, 2021.

About Hereditary Angioedema (HAE)
　Hereditary angioedema (HAE) is a disease that causes a decrease in C1 inhibitor (also called C1 elastase inhibitor or C1 inactivator) and its function in the blood, mainly due to genetic mutations. It causes recurrent edema and swelling (called angioedema) that lasts for two to three days in various parts of the body. The swelling of the skin (limbs, face, genitals, etc.) may resemble urticaria at first glance, but it is not accompanied by strong itching. Swelling of the throat, in particular, can lead to breathing difficulties, which can be life threatening. On the other hand, if the abdomen (stomach or intestines) swells, vomiting and severe pain may occur as in intestinal obstruction.

Background and purpose of the establishment of the consortium
　It is said that there are about 7,000 types of rare diseases and rare diseases are defined by having less than 50,000 eligible patients. in Japan. Because of their rarity, the disease recognition rate is generally low and diagnosis is extremely difficult. Therefore, many patients with rare diseases suffer for years without a proper diagnosis.

　HAE, one of the rare diseases, is facing the same challenge. The prevalence of HAE in Japan is said to be 1 in 50,000, and there is a report that there are about 430 patients under diagnosis and treatment in Japan*¹, which is only 20% of the estimated number of patients in Japan. In addition, there is a large gap in the average time from initial onset to diagnosis (13.8 yearsin Japan^{*2, less than 10 yearsin Europe and the United States*3*4) compared to Europe and the United States.}

　To date, medical professionals, patient groups, and pharmaceutical companies have been active, and while these activities have made some progress in increasing awareness of HAE, appropriate early diagnosis and overall diagnosis rate, which can still be improved.

　In order to save patients suffering from undiagnosed HAE, the consortium will collaborate with medical professionals, academic societies, patient groups, and pharmaceutical companies who deal with HAE patients on a daily basis, and aim to improve the appropriate early diagnosis and diagnosis rate through their expertise and creativity.

In addition, the consortium plans to invite IT companies to participate in an effort to actively use technology.

Main Activities
　We establish three working groups (“WG”) to promote activities to help patients suffering from symptoms of undiagnosed HAE.

• Medical Data AI Analysis WG
  　Based on electronic medical records, receipts, health checkup data, etc., we will build diagnostic support artificial intelligence (“AI”) to identify patients suffering from symptoms who have not been diagnosed with HAE, and use the AI to build and promote a system to avoid oversight in daily medical care.
• Non-specialist Diagnosis Support WG
  　In addition to providing knowledge to non-specialists in HAE, we will build a community of HAE specialists, and form a system that allows non-specialists to consult specialists for diagnosis using technology.
• Disease Awareness for Undiagnosed Patients WG
  　We will establish a system for undiagnosed patients to communicate with each other and to provide disease awareness information and self-diagnosis support tools.

Outline of the Consortium

Representative Director Profile
Michihiro Hide
　Michihiro Hide is a cooperating physician of the NPO HAEJ, which was established to support patients and their families to live a healthy and enjoyable life every day by establishing a community of patients with hereditary angioedema (HAE) and medical professionals. He also participates in HAE’s research on RUDY JAPAN, an online research platform that collects information on the condition and daily lives of patients with rare and incurable diseases. He is involved in the translation of the WAO Guidelines for the Treatment of Hereditary Angioedema and has supervised many other HAE-related projects.

Title.
　Director of Hiroshima City Hiroshima Citizens Hospital, Vice President of Japanese Dermatological Association, Executive Director, Japanese Allergic Society, etc.

Brief history.
1984 Graduated from Hiroshima University School of Medicine
1988 Completed Graduate School of Medicine, Hiroshima University
　　　 Research Scientist of NIH(NHLBI), USA　
1990 Research Fellow, St Thomas’s Hospital, University of London, UK
1993 Chief, Department of Dermatology, Koseiren Onomichi General Hospital
1996 Assistant Professor, Department of Dermatology, Hiroshima University School of Medicine
1999 Lecturer at the same university
2001 Professor of the same university
2008 Assistant to the Dean, Faculty of Medicine (Chairperson of Academic Affairs Committee, in charge of curriculum reform, etc.)
2009-2016 Deputy Director, Nanodevice and Bioinformatics Research Institute
2012 Professor, Graduate School of Medical, Dental and Pharmaceutical Sciences (Dermatology), Hiroshima University
2014~2016 Deputy Director, Graduate School of Medical, Dental and Health Sciences, Hiroshima University
2016 Dean, Hiroshima University School of Medicine
2021~ Hiroshima City Hospital Hospital Director / Hiroshima University Hospital Special Advisor

Takahiko Horiuchi
　Takahiko Horiuchi is a representative from the non-profit organization, “Angioedema Information Center (CREATE)”, which was established to help explain the reality of angioedema and using the results for the benefit of society. He was also responsible for the preparation of the first edition of the Japanese HAE Clinical Guidelines in 2010 and the revised editions in 2014 and 2019 by the Japanese Complement Society. He was the first in Asia to identify the causative gene of HAE type 3.

Title.
　Director of Kyushu University Beppu Hospital, Vice President of the Japanese Society of Rheumatology, Vice President of the Japanese Society of Complementology, etc.

Brief history.
1982 Graduated from Kyushu University, Faculty of Medicine
1984 Research Scientist, National Cancer Center Research Institute
1987 Research Fellow, University of Alabama School of Medicine, USA
1989 Research Assistant, First Department of Internal Medicine, Ehime University School of Medicine
1994 Assistant Professor, First Department of Internal Medicine, Faculty of Medicine, Kyushu University
2003 Lecturer, First Department of Internal Medicine, Kyushu University Hospital
2008 Associate Professor, Department of Pathology and Restorative Medicine, Graduate School, Kyushu University
2013 Professor, Department of Immunology, Hematology and Metabolism, Kyushu University Hospital Beppu, Japan
2016~ Kyushu University Hospital Beppu Hospital Hospital Director

■For media inquiries regarding this release, please contact
Diagnostic Consortium to Advance the Ecosystem for Hereditary Angioedema PR Office
Contact: Sato, Nakazawa, Kyodo Public Relations. Co., Ltd.
Phone: 03-3571-5365
Email: discovery.jimukyoku-pr@kyodo-pr.co.jp

■For inquiries from the general public, please contact
Diagnostic Consortium to Advance the Ecosystem for Hereditary Angioedema
E-mail: contact@discovery0208.or.jp

References.
*1 Isao Ohsawa (ed.): Intractable hereditary angioedema HAE Iyaku Journal, Inc.
*2 Ohsawa et.al, Ann Allergy Asthma Immunol, 2015
*3 Banerji et al., Allergy Asthma Proc. 2018 May-Jun
*4 Zanichelli et al., Allergy, Asthma & Clinical Immunology 2013

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