Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy
Introduction and purpose Mucopolysaccharidoses (MPS), a subset of inborn errors of metabolism (IEM), are genetic disorders requiring pediatricians to recognize non-specific symptoms and carefully monitor newborns. Early diagnosis is essential for optimizing therapeutic outcomes. In recent years, s...
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| Format: | Article |
| Language: | English |
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Kazimierz Wielki University
2025-02-01
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| Series: | Journal of Education, Health and Sport |
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| Online Access: | https://apcz.umk.pl/JEHS/article/view/57726 |
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| author | Joanna Wanat Wojciech Homa Aleksandra Warunek Gabriela Gronowicz Izabela Dzikowska Agata Siejka Daria Stefaniak Weronika Zielińska Michał Chról |
| author_facet | Joanna Wanat Wojciech Homa Aleksandra Warunek Gabriela Gronowicz Izabela Dzikowska Agata Siejka Daria Stefaniak Weronika Zielińska Michał Chról |
| author_sort | Joanna Wanat |
| collection | DOAJ |
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Introduction and purpose
Mucopolysaccharidoses (MPS), a subset of inborn errors of metabolism (IEM), are genetic disorders requiring pediatricians to recognize non-specific symptoms and carefully monitor newborns. Early diagnosis is essential for optimizing therapeutic outcomes. In recent years, significant progress has been made not only in the diagnostic process but also in the development of therapies. Established treatments, such as hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT), have been improved, while advancements in gene therapy have opened new possibilities.
State of knowledge
Numerous studies and clinical trials suggest that novel therapies could be game-changers in managing MPS. Among the promising new treatments are: blood-brain barrier (BBB)-penetrable enzyme replacement therapy (ERT), substrate reduction therapy, nonsense suppression therapy, and mRNA engineering. However, the most advanced treatments, that are currently under investigation are in-vivo and ex-vivo gene therapy.
Conclusions
This article aims to review treatment options for MPS I (Hurler syndrome), highlighting the evolution from established therapies to innovative approaches.
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| format | Article |
| id | doaj-art-39daee6e883548778234ef5a5b8c3492 |
| institution | Kabale University |
| issn | 2391-8306 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Kazimierz Wielki University |
| record_format | Article |
| series | Journal of Education, Health and Sport |
| spelling | doaj-art-39daee6e883548778234ef5a5b8c34922025-02-08T08:18:27ZengKazimierz Wielki UniversityJournal of Education, Health and Sport2391-83062025-02-017810.12775/JEHS.2025.78.57726Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene TherapyJoanna Wanat0https://orcid.org/0009-0009-3349-3618Wojciech Homa1https://orcid.org/0000-0003-2177-8818Aleksandra Warunek2https://orcid.org/0009-0000-7542-6522Gabriela Gronowicz3https://orcid.org/0009-0009-4034-1284Izabela Dzikowska 4https://orcid.org/0009-0006-5539-3771Agata Siejka 5https://orcid.org/0009-0009-2332-0115Daria Stefaniak6https://orcid.org/0009-0002-2207-4177Weronika Zielińska 7https://orcid.org/0009-0007-0707-9590Michał Chról8https://orcid.org/0009-0005-7776-6260Medical University of Lublin. Aleje Racławickie 1, 20-059 Lublin, Poland.Wojewódzki Szpital Specjalistyczny. al. Kraśnicka 100, 20-718 Lublin, Poland. Medical University of Lublin. Aleje Racławickie 1, 20-059 Lublin, Poland.Medical University of Lublin. Aleje Racławickie 1, 20-059 Lublin, Poland. Medical University of Lublin. Aleje Racławickie 1, 20-059 Lublin, Poland.Medical University of Lublin. Aleje Racławickie 1, 20-059 Lublin, Poland.Medical University of Lublin. Aleje Racławickie 1, 20-059 Lublin, Poland.Medical University of Lublin. Aleje Racławickie 1, 20-059 Lublin, Poland.Medical University of Lublin. Aleje Racławickie 1, 20-059 Lublin, Poland. Introduction and purpose Mucopolysaccharidoses (MPS), a subset of inborn errors of metabolism (IEM), are genetic disorders requiring pediatricians to recognize non-specific symptoms and carefully monitor newborns. Early diagnosis is essential for optimizing therapeutic outcomes. In recent years, significant progress has been made not only in the diagnostic process but also in the development of therapies. Established treatments, such as hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT), have been improved, while advancements in gene therapy have opened new possibilities. State of knowledge Numerous studies and clinical trials suggest that novel therapies could be game-changers in managing MPS. Among the promising new treatments are: blood-brain barrier (BBB)-penetrable enzyme replacement therapy (ERT), substrate reduction therapy, nonsense suppression therapy, and mRNA engineering. However, the most advanced treatments, that are currently under investigation are in-vivo and ex-vivo gene therapy. Conclusions This article aims to review treatment options for MPS I (Hurler syndrome), highlighting the evolution from established therapies to innovative approaches. https://apcz.umk.pl/JEHS/article/view/57726Gene therapyMucopolysaccharidosesHurler syndromeHematopoietic stem cell transplantationEnzyme replacement therapyInborn errors of metabolism |
| spellingShingle | Joanna Wanat Wojciech Homa Aleksandra Warunek Gabriela Gronowicz Izabela Dzikowska Agata Siejka Daria Stefaniak Weronika Zielińska Michał Chról Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy Journal of Education, Health and Sport Gene therapy Mucopolysaccharidoses Hurler syndrome Hematopoietic stem cell transplantation Enzyme replacement therapy Inborn errors of metabolism |
| title | Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy |
| title_full | Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy |
| title_fullStr | Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy |
| title_full_unstemmed | Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy |
| title_short | Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy |
| title_sort | advancements in the treatment of mucopolysaccharidoses from established therapies to gene therapy |
| topic | Gene therapy Mucopolysaccharidoses Hurler syndrome Hematopoietic stem cell transplantation Enzyme replacement therapy Inborn errors of metabolism |
| url | https://apcz.umk.pl/JEHS/article/view/57726 |
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