Article
Medicine, General & Internal
Markus Cybulla, Kathleen Nicholls, Sandro Feriozzi, Ales Linhart, Joan Torras, Bojan Vujkovac, Jaco Botha, Christina Anagnostopoulou, Michael L. West
Summary: This study evaluated the impact of agalsidase alfa on renal decline in patients with Fabry disease, finding that patients with high baseline proteinuria had a faster decline in eGFR, while the decline in eGFR in classic Fabry disease patients was not associated with baseline proteinuria. This suggests that early treatment and good proteinuria control may play a significant role in renal protection.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Menno ter Huurne, Benjamin L. Parker, Ning Qing Liu, Elizabeth Ling Qian, Celine Vivien, Kathy Karavendzas, Richard J. Mills, Jennifer T. Saville, Dad Abu-Bonsrah, Andrea F. Wise, James E. Hudson, Andrew S. Talbot, Patrick F. Finn, Paolo G. V. Martini, Maria Fuller, Sharon D. Ricardo, Kevin I. Watt, Kathy M. Nicholls, Enzo R. Porrello, David A. Elliott
Summary: This study evaluated the efficacy of nucleoside-modified messenger RNA (modRNA) treatment for Fabry disease and validated it using a human cardiac model generated from induced pluripotent stem cells. The results showed that modRNA treatment restored α-Galactosidase A enzyme activity and reduced glycosphingolipid accumulation, demonstrating its therapeutic potential.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Pediatrics
Qian Li, Jing Wang, Minle Tian, Zhenle Yang, Lichun Yu, Suwen Liu, Cong Wang, Xiaoyuan Wang, Shuzhen Sun
Summary: This study retrospectively analyzed the clinical features, diagnosis, and enzyme replacement therapy (ERT) of 10 children with Fabry disease (FD). The results showed that the clinical manifestations of FD in children are diverse, and a definite diagnosis is necessary through the combination of family history, enzyme activity, biomarkers, gene testing, and other indicators. ERT with agalsidase alpha and beta can effectively reduce Lyso-GL-3 levels and achieve stable results.
FRONTIERS IN PEDIATRICS
(2023)
Article
Cardiac & Cardiovascular Systems
Satoshi Morimoto, Ayumi Nojiri, Eiko Fukuro, Ikuko Anan, Makoto Kawai, Ken Sakurai, Masahisa Kobayashi, Hiroshi Kobayashi, Hiroyuki Ida, Toya Ohashi, Takahiro Shibata, Michihiro Yoshimura, Yoshikatsu Eto, Kenichi Hongo
Summary: The study analyzed the changes in ECG parameters in 40 Japanese Fabry patients under long-term ERT treatment. The findings suggest that prolongation of QRS duration and QTc in male patients may indicate the progression of myocardial damage in LVH patients and female patients with classical type mutations.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Genetics & Heredity
Derralynn Hughes, Derlis Gonzalez, Gustavo Maegawa, John A. Bernat, Myrl Holida, Pilar Giraldo, Mohamed G. Atta, Raul Chertkoff, Sari Alon, Einat Brill Almon, Rossana Rocco, Ozlem Goker-Alpan
Summary: This study evaluated the long-term safety and efficacy of pegunigalsidase alfa, a PEGylated alpha-Gal-A enzyme replacement therapy, in patients with Fabry disease (FD). The results showed favorable safety and efficacy of pegunigalsidase alfa treatment in adult FD patients and suggested continuous long-term benefits.
GENETICS IN MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Olga Azevedo, Filipa Cordeiro, Miguel Fernandes Gago, Gabriel Miltenberger-Miltenyi, Catarina Ferreira, Nuno Sousa, Damiao Cunha
Summary: Fabry disease is an X-linked lysosomal storage disorder caused by GLA gene mutations, resulting in accumulation of GB3 in cardiac cells and leading to cardiac issues. Despite available therapies, cardiac involvement remains the main cause of death in patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Marine Tardieu, Celine Cudejko, Aline Cano, Celia Hoebeke, Delphine Bernoux, Violette Goetz, Samia Pichard, Anais Brassier, Manuel Schiff, Francois Feillet, Paul Rollier, Karine Mention, Dries Dobbelaere, Alain Fouilhoux, Caroline Espil-Taris, Didier Eyer, Frederic Huet, Ulrike Walther-Louvier, Magalie Barth, Laurent Chevret, Alice Kuster, Jeremie Lefranc, Julien Neveu, Gaele Pitelet, Juliette Ropars, Francois Rivier, Agathe Roubertie, Guy Touati, Catherine Vanhulle, Emilie Tardieu, Catherine Caillaud, Roseline Froissart, Murielle Champeaux, Francois Labarthe, Brigitte Chabrol
Summary: This study retrospectively analyzed the outcomes of classical IOPD patients diagnosed in France between 2004 and 2020. The results showed high long-term mortality and morbidity rates among classical IOPD patients, with decreased efficacy after the age of 6.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Multidisciplinary Sciences
Jannike Nickander, Ben Cole, Sabrina Nordin, Ravi Vijapurapu, Richard P. Steeds, James C. Moon, Peter Kellman, Martin Ugander, Rebecca Kozor
Summary: In a multicenter study of Fabry patients and healthy controls, blood-correction of myocardial native T1 was found to increase the number of patients with low T1 and reclassify them as having cardiac involvement. This blood-correction may potentially allow for earlier detection and therapy initiation.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Paivi Pietila-Effati, Jukka T. Saarinen, Eliisa Loyttyniemi, Maria Saarenhovi, Reijo Autio, Ilkka Kantola
Summary: Fabry disease is a life-threatening lysosomal disease caused by variants in the GLA gene. The FAST study investigated the long-term effect of ERT on patients with the variant p.Arg227Ter. During the study, cardiac events were the most common, and ERTs could delay disease progression but not prevent it. The variant p.Arg227Ter may be suitable for studying the efficacy of second-generation ERTs.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Review
Chemistry, Medicinal
Muhammad Umer, Dinesh K. K. Kalra
Summary: Fabry disease is a rare genetic disorder that affects the metabolism of glycosphingolipids. It results in the accumulation of globotriaosylceramide in lysosomes due to a deficiency of the alpha-galactosidase A enzyme. This disease affects multiple organs, mainly the kidneys, heart, and cerebrovascular system. Early diagnosis and treatment are crucial in preventing irreversible tissue damage, organ failure, and life-threatening complications that can significantly impact life expectancy. This review focuses on the current and emerging treatment options for Fabry disease.
Article
Biochemistry & Molecular Biology
Tama Dinur, Ulrike Grittner, Shoshana Revel-Vilk, Michal Becker-Cohen, Majdolen Istaiti, Claudia Cozma, Arndt Rolfs, Ari Zimran
Summary: Enzyme replacement therapy (ERT) and substrate reduction therapy have been standard treatments for type 1 Gaucher disease for thirty years. This study compared the impact of three different ERTs on GD1 patients, with velaglucerase alfa showing a faster decrease in lyso-Gb1 levels. Significant variations in lyso-Gb1 levels were observed among different patients and within the same patient across all ERTs.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Urology & Nephrology
Il Young Kim, Hyun Jung Lee, Chong Kun Cheon
Summary: This study found that segmental foot process effacement and GL3 deposits may persist in Fabry nephropathy despite enzyme replacement therapy. Additionally, segmental foot process effacement and GL3 deposits were observed in various kidney cells in normoalbuminuric patients with Fabry disease.
KIDNEY RESEARCH AND CLINICAL PRACTICE
(2021)
Article
Pediatrics
Jenny Avarappattu, Ariana Gaspert, Giuseppina Sparta, Marianne Rohrbach
Summary: This study examined kidney biopsies of untreated children with Fabry disease to determine if early initiation of enzyme replacement therapy (ERT) is warranted. The findings showed that histological lesions characteristic of Fabry disease can be observed in young patients without typical clinical symptoms or laboratory abnormalities, suggesting that kidney biopsies may be a useful tool for early diagnosis of renal involvement in Fabry disease. Early initiation of ERT should be considered based on these biopsy findings without clinical correlation.
PEDIATRIC NEPHROLOGY
(2023)
Article
Medicine, General & Internal
Soojin Hwang, Beom Hee Lee, Woo-Shik Kim, Dae-Seong Kim, Chong Kun Cheon, Chang Hwa Lee, Yunha Choi, Jin-Ho Choi, Ja Hye Kim, Han-Wook Yoo
Summary: This study demonstrated the efficacy and safety of ISU303 in the treatment of Fabry disease (FD). ISU303 significantly reduced plasma and urine Gb3 levels in FD patients, suggesting it as a potential alternative to enzyme replacement therapy (ERT) for FD.
Article
Pharmacology & Pharmacy
Mina Tsurumi, Shinya Suzuki, Jiro Hokugo, Kazuo Ueda
Summary: Enzyme replacement therapy in Fabry disease has been available in Japan since 2004. Two post-authorization safety studies were conducted to evaluate agalsidase beta in Japanese patients with Fabry disease in real-world practice. The studies showed that agalsidase beta demonstrated acceptable safety and tolerability, with sustained reductions in blood GL-3 levels, regardless of age or disease phenotype.
EXPERT OPINION ON DRUG SAFETY
(2021)
