APPSPGHAN 2022

Satoshi Nakano

Assistant professor / Juntendo University

Japan

I have obtained M.D. degree in 2010 and Ph.D. degree in 2018. After the completion of training as general physician for 2 years, I have been working as a pediatrician with subspecialties in pediatric liver disease. I have joined to Dr. Hisamitsu Hayashi’s laboratory, The University of Tokyo, between 2015 to 2017 as a graduate student to conduct my doctoral program. The project results in his laboratory have been accepted by Scientific Reports (2019; 9: 17075). In 2020, I have started my carrier at Lund University, Cell Stem Center, Sweden, as a postdoctoral fellow. The topic of my research was ‘bile acid and oxysterol metabolism during ontogeny’. From April 2022, I began working as a pediatric hepatologist at Juntendo University.

Comprehensive and Informative Registry system for Childhood Liver Disease (CIRCLe): the Japanese experience

Liver Symposium : Neonatal cholestasis

13 October 2022 (1100-1300) @ Sipadan Hall 2

Before CIRCLe - The environment surrounding pediatric cholestatic liver disease

There are many pediatric cholestatic diseases such as biliary atresia, Alagille syndrome, progressive familial intrahepatic cholestasis (PFIC)/ benign repetitive intrahepatic cholestasis (BRIC), citrin deficiency, Dubin-Johnson syndrome, Niemann-Pick disease type C, alpha 1-antitrypsin deficiency and bile acid metabolism disorder, which can lead to liver failure and death if not detected and treated early in childhood.
In Japan, registry studies existed only for biliary atresia, the most common of these diseases, but no registry system existed for the other diseases due to their rarity (1/10 to 1/100 of patients with biliary atresia).

The number of patients with pediatric cholestatic liver disease is small and scattered among various medical institutions, and the inability to consolidate patient information has delayed progress in elucidating the pathogenesis of the disease and in therapeutic research. In response to this situation, we established the Comprehensive and Informative Registry system for Childhood Liver disease (CIRCLe) in 2020.

CIRCLe has established a research website (https://www.circle-registry.org) to register and collect information on a wide range of pediatric cholestatic liver disease patients in various locations and to collect a large amount of clinical information and biological samples. CIRCLe also contributes to the diagnosis of patients by providing special tests (genetic analysis, bile acid analysis, and liver pathology; originally paid for by the patient) free of charge to patients with this disease group. CIRCLe aims to elucidate the natural history and prognostic factors of cholestatic liver disease in children and to develop and establish new diagnostic and therapeutic methods.

The number of participating medical institutions and registered cases has been steadily increasing since the start of full-scale operation in February 2021, with 38 prefectures and 70 medical institutions (all of which specialize in pediatric liver disease: covering 88% prefectures of Japan) participating and the cumulative number of cases reaching 100 (as of August 2022). The number of births in Japan in 2021 is 811,604, and considering that even biliary atresia, the most frequent cholestatic liver disease (1 in 10,000-15,000 births), theoretically only 54-81 births per year, CIRCLe (a registry system for pediatric cholestatic liver diseases excluding biliary atresia*) has performed well (*biliary atresia was excluded from the inaugural study because a dedicated registry study existed for this disease).
The introduction of CIRCLe has facilitated the treatment and research of pediatric patients with cholestatic liver disease, allowing many patients to undergo special tests through a simple procedure, and allowing valuable research materials to be stored in the registry and biorepository system.

The nickname "CIRCLe" is based on the idea of bringing together patients and their families, attending physicians and specialists, and researchers: creating a “circle”,"and is not intended to be a system that only benefits researchers and medical professionals. In order to realize this ideal, CIRCLe is currently developing a system that allows patients and their families to proactively participate in research. CIRCLe plans to expand the registry to other Asian countries in the future. We plans to use the CIRCLe system to provide special tests free of charge to people in Asia suffering from incurable diseases.

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