Status and frontiers of Fabre disease
Abstract Fabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs, which induces end-organ lesions. In Fabry disease, enzymes with lost or decrease...
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| Language: | English |
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BMC
2025-03-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03646-y |
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| author | Wei Chu Min Chen Xiaoqin Lv Sheng Lu Changyan Wang Limin Yin Linyan Qian Jiana Shi |
| author_facet | Wei Chu Min Chen Xiaoqin Lv Sheng Lu Changyan Wang Limin Yin Linyan Qian Jiana Shi |
| author_sort | Wei Chu |
| collection | DOAJ |
| description | Abstract Fabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs, which induces end-organ lesions. In Fabry disease, enzymes with lost or decreased activity in the body are replaced by exogenous supplementation of normal-function α-galactosidase A. Currently, agalsidase α and agalsidase β are widely used for ERT therapy. However, this therapy has limitations such as high cost, short half-life, and production of neutralizing drug antibodies. The use of Migalastat as chaperone therapy has been approved in many countries, and it plays a therapeutic role by enhancing enzyme activity. However, companion therapy drugs are only suitable for patients with decreased enzyme activity, so the scope of their application is limited. In addition, there are several therapeutic drugs in development, including a new generation of ERT therapies, drugs resistant to neutralizing anti-drug antibody drugs, and substrate reduction therapy drugs. Due to the limitations of existing therapeutic drugs, researchers have begun to explore new therapeutic drugs for Fabry disease, so new pathogenic mechanisms and adjuvant therapeutic drugs have been continuously discovered, and the development of related drugs will contribute to disease control and treatment. This article summarizes the existing and potential drugs for treating Fabry disease to facilitate the selection of suitable and effective drugs for treatment. |
| format | Article |
| id | doaj-art-2ff878e5f49f47b49c39d42db40fe02e |
| institution | DOAJ |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-2ff878e5f49f47b49c39d42db40fe02e2025-08-20T03:01:41ZengBMCOrphanet Journal of Rare Diseases1750-11722025-03-012011710.1186/s13023-025-03646-yStatus and frontiers of Fabre diseaseWei Chu0Min Chen1Xiaoqin Lv2Sheng Lu3Changyan Wang4Limin Yin5Linyan Qian6Jiana Shi7Department of Pharmacy, The First People’s Hospital of Huzhou, The Directly Affiliated Hospital of Huzhou Teachers CollegeCenter for Clinical Pharmacy, Cancer Center, Department of Pharmacy, Zhejiang Provincial People’s Hospital (Affiliated People’s Hospital, Hangzhou Medical College)Department of Drug Monitoring and Evaluation, Zhejiang Center for Drug and Cosmetic EvaluationDepartment of Pharmacy, The First People’s Hospital of Huzhou, The Directly Affiliated Hospital of Huzhou Teachers CollegeDepartment of Clinical Laboratory, Huzhou Aishan Hospital of Integrated Chinese and Western MedicineDepartment of Pharmacy, First People’s Hospital of WenlingCenter for Clinical Pharmacy, Cancer Center, Department of Pharmacy, Zhejiang Provincial People’s Hospital (Affiliated People’s Hospital, Hangzhou Medical College)Center for Clinical Pharmacy, Cancer Center, Department of Pharmacy, Zhejiang Provincial People’s Hospital (Affiliated People’s Hospital, Hangzhou Medical College)Abstract Fabry disease is characterized by an X sex chromosome gene mutation caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide and globotriaosylsphingosine in various organs, which induces end-organ lesions. In Fabry disease, enzymes with lost or decreased activity in the body are replaced by exogenous supplementation of normal-function α-galactosidase A. Currently, agalsidase α and agalsidase β are widely used for ERT therapy. However, this therapy has limitations such as high cost, short half-life, and production of neutralizing drug antibodies. The use of Migalastat as chaperone therapy has been approved in many countries, and it plays a therapeutic role by enhancing enzyme activity. However, companion therapy drugs are only suitable for patients with decreased enzyme activity, so the scope of their application is limited. In addition, there are several therapeutic drugs in development, including a new generation of ERT therapies, drugs resistant to neutralizing anti-drug antibody drugs, and substrate reduction therapy drugs. Due to the limitations of existing therapeutic drugs, researchers have begun to explore new therapeutic drugs for Fabry disease, so new pathogenic mechanisms and adjuvant therapeutic drugs have been continuously discovered, and the development of related drugs will contribute to disease control and treatment. This article summarizes the existing and potential drugs for treating Fabry disease to facilitate the selection of suitable and effective drugs for treatment.https://doi.org/10.1186/s13023-025-03646-yFabry diseaseTherapeutic drugsERT |
| spellingShingle | Wei Chu Min Chen Xiaoqin Lv Sheng Lu Changyan Wang Limin Yin Linyan Qian Jiana Shi Status and frontiers of Fabre disease Orphanet Journal of Rare Diseases Fabry disease Therapeutic drugs ERT |
| title | Status and frontiers of Fabre disease |
| title_full | Status and frontiers of Fabre disease |
| title_fullStr | Status and frontiers of Fabre disease |
| title_full_unstemmed | Status and frontiers of Fabre disease |
| title_short | Status and frontiers of Fabre disease |
| title_sort | status and frontiers of fabre disease |
| topic | Fabry disease Therapeutic drugs ERT |
| url | https://doi.org/10.1186/s13023-025-03646-y |
| work_keys_str_mv | AT weichu statusandfrontiersoffabredisease AT minchen statusandfrontiersoffabredisease AT xiaoqinlv statusandfrontiersoffabredisease AT shenglu statusandfrontiersoffabredisease AT changyanwang statusandfrontiersoffabredisease AT liminyin statusandfrontiersoffabredisease AT linyanqian statusandfrontiersoffabredisease AT jianashi statusandfrontiersoffabredisease |