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Current and new therapies for mucopolysaccharidoses
Monica Penon-Portmann1, David R Blair2, Paul Harmatz3
1UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA; Seattle Children's Hospital, Seattle, WA, USA.
Pediatrics and Neonatology
|December 4, 2022
Summary
Mucopolysaccharidoses (MPSs) are rare genetic disorders. Treatments like stem cell transplant, enzyme replacement, and gene therapy are improving outcomes for MPS patients.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidoses (MPSs) are lysosomal storage diseases due to enzyme deficiencies.
- Glycosaminoglycans (GAGs) accumulate, causing progressive, multi-systemic symptoms in children.
- Treatment options for MPS have significantly advanced over the past 30 years.
Purpose of the Study:
- To review current treatment modalities for MPS.
- To discuss the principle of enzymatic cross-correction in MPS therapy.
- To explore the effectiveness, risks, and future directions of MPS treatments.
Main Methods:
- Review of existing literature on MPS treatments.
- Analysis of hematopoietic stem cell transplantation, enzyme replacement therapy, and gene therapy.
- Evaluation of treatment efficacy across different MPS subtypes.
Main Results:
- Multiple therapies now exist to delay MPS progression, with varying effectiveness.
- Hematopoietic stem cell transplantation, enzyme replacement, and gene therapy are key treatment modalities.
- Each therapy presents unique benefits, risks, and future development pathways.
Conclusions:
- MPS treatment has evolved, offering improved quality of life and longevity.
- Early diagnosis and effective management are crucial for better patient outcomes.
- Continued evolution of MPS therapies promises further advancements.
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