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Long-Term Outcomes of Hematopoietic Stem Cell Transplantation in Mucopolysaccharidoses Patients Without Radiation
Mohammad Jahanpanah1, Leila Jafari1, Maryam Behfar1,2
1Pediatric Cell and Gene Therapy Research Center, Gene, Cell & Tissue Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Aim:
Mucopolysaccharidosis (MPS) is an inherited lysosomal storage disorder (LSD) subcategory caused by the glycosaminoglycans (GAG) endo- and exo-glycosidases malfunction or dysfunction, leading to GAG accumulation. Due to the enzyme replacement therapy's (ERT's) limitations and challenges, HSCT is considered the only standard curative option in some MPS subtypes.
Methods:
The cross-sectional study was conducted on MPS subtypes I, II, and VI patients with an indication for HSCT between September 2016 and December 2023. A myeloablative conditioning (MAC) regimen without radiation was administered to all patients.
Results:
In this study, the OS was 75.3% for all patients. Considering different MPS subtypes, the OS rate was 71.6%, 62.5%, and 81.3% for MPS-I, II, and VI patients, respectively. There was no graft failure using PB donor cells, and all alive patients reached normal enzyme activity 1 year post-HSCT. Considering growth parameters, we showed that MPS I patients could benefit from HSCT more than MPS VI patients. However, MPS VI patients showed better OS.
Conclusions:
Data regarding the comparison of HSCT outcomes in different MPS subtypes are limited, and HSCT outcomes in MPS VI patients are mostly limited to case reports. A conditioning regimen without radiation should be considered in all patients to reduce post-HSCT complications.
Insights
Hematopoietic stem cell transplantation (HSCT) offers a curative option for mucopolysaccharidoses (MPS). This study found HSCT achieved 75.3% overall survival, with MPS VI patients showing better survival but MPS I patients demonstrating greater growth benefits.
Area of Science:
- Biochemistry
- Genetics
- Immunology
Background:
- Mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders (LSDs) caused by enzyme deficiencies leading to glycosaminoglycan (GAG) accumulation.
- Enzyme replacement therapy (ERT) has limitations, making hematopoietic stem cell transplantation (HSCT) a crucial curative option for specific MPS subtypes.
Purpose of the Study:
- To compare HSCT outcomes across different MPS subtypes (I, II, and VI).
- To evaluate overall survival (OS), graft success, enzyme activity, and growth parameters post-HSCT.
- To assess the efficacy of a non-radiation myeloablative conditioning (MAC) regimen.
Main Methods:
- A cross-sectional study involving MPS I, II, and VI patients undergoing HSCT between September 2016 and December 2023.
- All patients received a non-radiation myeloablative conditioning (MAC) regimen.
- Outcomes including OS, graft failure, enzyme activity, and growth were analyzed.
Main Results:
- Overall survival (OS) was 75.3% across all MPS subtypes.
- Specific OS rates were 71.6% for MPS I, 62.5% for MPS II, and 81.3% for MPS VI.
- No graft failure occurred with peripheral blood stem cells; all surviving patients achieved normal enzyme activity one year post-HSCT. MPS I patients showed better growth, while MPS VI had superior OS.
Conclusions:
- Comparative data on HSCT outcomes in different MPS subtypes are scarce.
- HSCT outcomes in MPS VI are primarily documented in case reports.
- A non-radiation conditioning regimen is recommended to minimize post-HSCT complications.
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