First-in-human clinical study of an embryonic stem cell product for urea cycle disorders

Abstract Background This study assesses the safety and efficacy of hepatocyte-like cell (HLC) infusion therapy derived from human embryonic stem cells as bridging therapy for neonatal-onset urea cycle disorders (UCD). The research includes both preclinical and clinical evaluations to determine the f...

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Main Authors: Akihiro Umezawa, Akinari Fukuda, Reiko Horikawa, Hajime Uchida, Shin Enosawa, Yoshie Oishi, Naoko Nakamura, Kengo Sasaki, Yusuke Yanagi, Seiichi Shimizu, Toshimasa Nakao, Tasuku Kodama, Seisuke Sakamoto, Itaru Hayakawa, Saeko Akiyama, Noriaki Saku, Shoko Miyata, Kenta Ite, Palaksha Kanive Javaregowda, Masashi Toyoda, Hidenori Nonaka, Kazuaki Nakamura, Yoshikazu Ito, Yasuyuki Fukuhara, Osamu Miyazaki, Shunsuke Nosaka, Kazuhiko Nakabayashi, Chizuko Haga, Takako Yoshioka, Akira Masuda, Takashi Ohkura, Mayu Yamazaki-Inoue, Masakazu Machida, Rie Abutani-Sakamoto, Shoko Miyajima, Hidenori Akutsu, Yoichi Matsubara, Takashi Igarashi, Mureo Kasahara
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Stem Cell Research & Therapy
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Online Access:https://doi.org/10.1186/s13287-025-04162-3
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author Akihiro Umezawa
Akinari Fukuda
Reiko Horikawa
Hajime Uchida
Shin Enosawa
Yoshie Oishi
Naoko Nakamura
Kengo Sasaki
Yusuke Yanagi
Seiichi Shimizu
Toshimasa Nakao
Tasuku Kodama
Seisuke Sakamoto
Itaru Hayakawa
Saeko Akiyama
Noriaki Saku
Shoko Miyata
Kenta Ite
Palaksha Kanive Javaregowda
Masashi Toyoda
Hidenori Nonaka
Kazuaki Nakamura
Yoshikazu Ito
Yasuyuki Fukuhara
Osamu Miyazaki
Shunsuke Nosaka
Kazuhiko Nakabayashi
Chizuko Haga
Takako Yoshioka
Akira Masuda
Takashi Ohkura
Mayu Yamazaki-Inoue
Masakazu Machida
Rie Abutani-Sakamoto
Shoko Miyajima
Hidenori Akutsu
Yoichi Matsubara
Takashi Igarashi
Mureo Kasahara
author_facet Akihiro Umezawa
Akinari Fukuda
Reiko Horikawa
Hajime Uchida
Shin Enosawa
Yoshie Oishi
Naoko Nakamura
Kengo Sasaki
Yusuke Yanagi
Seiichi Shimizu
Toshimasa Nakao
Tasuku Kodama
Seisuke Sakamoto
Itaru Hayakawa
Saeko Akiyama
Noriaki Saku
Shoko Miyata
Kenta Ite
Palaksha Kanive Javaregowda
Masashi Toyoda
Hidenori Nonaka
Kazuaki Nakamura
Yoshikazu Ito
Yasuyuki Fukuhara
Osamu Miyazaki
Shunsuke Nosaka
Kazuhiko Nakabayashi
Chizuko Haga
Takako Yoshioka
Akira Masuda
Takashi Ohkura
Mayu Yamazaki-Inoue
Masakazu Machida
Rie Abutani-Sakamoto
Shoko Miyajima
Hidenori Akutsu
Yoichi Matsubara
Takashi Igarashi
Mureo Kasahara
author_sort Akihiro Umezawa
collection DOAJ
description Abstract Background This study assesses the safety and efficacy of hepatocyte-like cell (HLC) infusion therapy derived from human embryonic stem cells as bridging therapy for neonatal-onset urea cycle disorders (UCD). The research includes both preclinical and clinical evaluations to determine the feasibility of HLC infusion as a therapeutic option for safer pediatric liver transplantation. Methods Preclinical studies were conducted to validate the safety, biodistribution, and ammonia metabolism capabilities of HLCs using SCID mice models of UCD and extensive animal studies. In the clinical trial, five neonates with UCD received HLC infusions, intending to maintain metabolic stability and exceed a target weight of over 6 kg, which is considered necessary for safer liver transplantation. Results Preclinical studies demonstrated that HLCs successfully engrafted in the liver without adverse migration or tumor formation and effectively elongated survival. Clinically, all five neonates exceeded the target weight of 6 kg while maintaining metabolic stability and successfully bridging to transplantation. Post-transplantation follow-up revealed stable growth, metabolic control, and no neurological complications. Conclusions The combined preclinical and clinical findings support HLC infusion as a viable bridge therapy for neonates with UCD, providing metabolic support to achieve safer weight thresholds for transplantation. While promising, careful monitoring remains essential, particularly for potential complications such as thrombus formation. Trial Registration jRCT, jRCT1090220412. Registered on 27 February 2019, https://jrct.niph.go.jp/en-latest-detail/jRCT1090220412 (originally registered in JMACCT (JMA-IIA00412)).
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spelling doaj-art-ffcf7ebb0cf7430498b3fd627f61a2c42025-08-20T02:59:19ZengBMCStem Cell Research & Therapy1757-65122025-03-0116111110.1186/s13287-025-04162-3First-in-human clinical study of an embryonic stem cell product for urea cycle disordersAkihiro Umezawa0Akinari Fukuda1Reiko Horikawa2Hajime Uchida3Shin Enosawa4Yoshie Oishi5Naoko Nakamura6Kengo Sasaki7Yusuke Yanagi8Seiichi Shimizu9Toshimasa Nakao10Tasuku Kodama11Seisuke Sakamoto12Itaru Hayakawa13Saeko Akiyama14Noriaki Saku15Shoko Miyata16Kenta Ite17Palaksha Kanive Javaregowda18Masashi Toyoda19Hidenori Nonaka20Kazuaki Nakamura21Yoshikazu Ito22Yasuyuki Fukuhara23Osamu Miyazaki24Shunsuke Nosaka25Kazuhiko Nakabayashi26Chizuko Haga27Takako Yoshioka28Akira Masuda29Takashi Ohkura30Mayu Yamazaki-Inoue31Masakazu Machida32Rie Abutani-Sakamoto33Shoko Miyajima34Hidenori Akutsu35Yoichi Matsubara36Takashi Igarashi37Mureo Kasahara38National Center for Child Health and Development Research InstituteNational Center for Child Health and DevelopmentNational Center for Child Health and DevelopmentNational Center for Child Health and DevelopmentNational Center for Child Health and Development Research InstituteNational Center for Child Health and DevelopmentNational Center for Child Health and Development Research InstituteNational Center for Child Health and DevelopmentNational Center for Child Health and DevelopmentNational Center for Child Health and DevelopmentNational Center for Child Health and DevelopmentNational Center for Child Health and DevelopmentNational Center for Child Health and DevelopmentNational Center for Child Health and DevelopmentNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and DevelopmentNational Center for Child Health and DevelopmentNational Center for Child Health and DevelopmentNational Center for Child Health and Development Research InstituteNational Center for Child Health and DevelopmentNational Center for Child Health and DevelopmentNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and Development Research InstituteNational Center for Child Health and DevelopmentAbstract Background This study assesses the safety and efficacy of hepatocyte-like cell (HLC) infusion therapy derived from human embryonic stem cells as bridging therapy for neonatal-onset urea cycle disorders (UCD). The research includes both preclinical and clinical evaluations to determine the feasibility of HLC infusion as a therapeutic option for safer pediatric liver transplantation. Methods Preclinical studies were conducted to validate the safety, biodistribution, and ammonia metabolism capabilities of HLCs using SCID mice models of UCD and extensive animal studies. In the clinical trial, five neonates with UCD received HLC infusions, intending to maintain metabolic stability and exceed a target weight of over 6 kg, which is considered necessary for safer liver transplantation. Results Preclinical studies demonstrated that HLCs successfully engrafted in the liver without adverse migration or tumor formation and effectively elongated survival. Clinically, all five neonates exceeded the target weight of 6 kg while maintaining metabolic stability and successfully bridging to transplantation. Post-transplantation follow-up revealed stable growth, metabolic control, and no neurological complications. Conclusions The combined preclinical and clinical findings support HLC infusion as a viable bridge therapy for neonates with UCD, providing metabolic support to achieve safer weight thresholds for transplantation. While promising, careful monitoring remains essential, particularly for potential complications such as thrombus formation. Trial Registration jRCT, jRCT1090220412. Registered on 27 February 2019, https://jrct.niph.go.jp/en-latest-detail/jRCT1090220412 (originally registered in JMACCT (JMA-IIA00412)).https://doi.org/10.1186/s13287-025-04162-3HepatocyteEmbryonic stem cells (ESCs)Urea cycle disorders (UCD)Liver transplantationNeonatal-onsetAmmonia removal
spellingShingle Akihiro Umezawa
Akinari Fukuda
Reiko Horikawa
Hajime Uchida
Shin Enosawa
Yoshie Oishi
Naoko Nakamura
Kengo Sasaki
Yusuke Yanagi
Seiichi Shimizu
Toshimasa Nakao
Tasuku Kodama
Seisuke Sakamoto
Itaru Hayakawa
Saeko Akiyama
Noriaki Saku
Shoko Miyata
Kenta Ite
Palaksha Kanive Javaregowda
Masashi Toyoda
Hidenori Nonaka
Kazuaki Nakamura
Yoshikazu Ito
Yasuyuki Fukuhara
Osamu Miyazaki
Shunsuke Nosaka
Kazuhiko Nakabayashi
Chizuko Haga
Takako Yoshioka
Akira Masuda
Takashi Ohkura
Mayu Yamazaki-Inoue
Masakazu Machida
Rie Abutani-Sakamoto
Shoko Miyajima
Hidenori Akutsu
Yoichi Matsubara
Takashi Igarashi
Mureo Kasahara
First-in-human clinical study of an embryonic stem cell product for urea cycle disorders
Stem Cell Research & Therapy
Hepatocyte
Embryonic stem cells (ESCs)
Urea cycle disorders (UCD)
Liver transplantation
Neonatal-onset
Ammonia removal
title First-in-human clinical study of an embryonic stem cell product for urea cycle disorders
title_full First-in-human clinical study of an embryonic stem cell product for urea cycle disorders
title_fullStr First-in-human clinical study of an embryonic stem cell product for urea cycle disorders
title_full_unstemmed First-in-human clinical study of an embryonic stem cell product for urea cycle disorders
title_short First-in-human clinical study of an embryonic stem cell product for urea cycle disorders
title_sort first in human clinical study of an embryonic stem cell product for urea cycle disorders
topic Hepatocyte
Embryonic stem cells (ESCs)
Urea cycle disorders (UCD)
Liver transplantation
Neonatal-onset
Ammonia removal
url https://doi.org/10.1186/s13287-025-04162-3
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