Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management
Abstract
1. Introduction
2. Diagnosis
2.1. Clinical Diagnosis and Phenotype
2.2. GALNS Enzyme and Genetic Diagnosis
2.3. Radiographic Diagnosis
2.4. Biochemical Diagnosis
2.4.1. GAG Level in Urine
2.4.2. KS Level
2.4.3. C6S Level
2.4.4. Enzyme Assay
3. Treatment and Management
3.1. ERT
3.2. HSCT
3.3. Orthopedic Surgery
3.4. Management of Tracheal Obstruction
3.5. Future Therapies
3.5.1. Substrate Degradation Enzyme Therapy (SDET)
3.5.2. Gene Therapy
3.5.3. Nanomedicine
3.5.4. Pharmacological Chaperone Therapy
4. Conclusions
Acknowledgments
Conflicts of Interest
Abbreviations
AAV | Adeno-associated virus |
ADL | Activity of daily living |
BBB | Blood-brain barrier |
BMD | Bone mineral density |
BMT | Bone marrow transplantation |
C6S | Chondroitin-6-sulfate |
CBA | Chicken β-actin |
CSF | Cerebrospinal fluid |
CT | Computed tomography |
D8 | Aspartic acid octapeptide |
DBS | Dried blood spot |
DMB | Dimethylmethylene blue |
ECM | Extracellular matrix |
ELISA | Enzyme-linked immunosorbent assay |
EMA | European Medicines Agency |
ERT | Enzyme replacement therapy |
FDA | Food and Drug Administration |
FEV1 | Forced expiratory volume in 1s |
FVC | Forced vital capacity |
GAG | Glycosaminoglycans |
GALNS | N-acetylgalactosamine 6-sulfate sulfatase |
GVHD | Graft versus host disease |
HS | Heparan sulfate |
HSCT | Hematopoietic stem cell transplantation |
KS | Keratan sulfate |
LC-MS/MS | Liquid chromatography tandem mass spectrometry |
MPS | Mucopolysaccharidosis |
MRI | Magnetic resonance imaging |
NLC | Nanostructured lipid carriers |
SDET | Substrate degradation enzyme therapy |
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Advantage | Disadvantage | |
---|---|---|
ERT | Low risk of mortality and morbidity | High cost ($ 400,000 per year per 25 kg) |
No limitation of age | Weekly infusion | |
No specialized medical facility required | Short half-life time of the enzyme (40 min-human, 2 min-mouse) | |
HSCT | Lower cost than ERT (approximately $ 100,000) | Risk of mortality and morbidity |
One-time permanent treatment | Limitation of age | |
Continuous activity of enzyme | Specialized medical facility required | |
More effect in bone pathology than ERT | GVHD | |
Availability of a donor | ||
Advantage | Problems to overcome | |
SDET | Enzyme is active in neutral pH (May work in circulation and ECM) | Immunogenicity to the enzyme |
No age limitation | Optimal dose and treatment frequency | |
Gene therapy | One-time permanent treatment | Vector selection needs to be determined |
Continuous activity of enzyme | (optimal promoter, AAV serotype, dose etc) | |
Does not require donor | Readministration is Not available | |
No age limitation | Unknown duration of enzyme expression | |
Nanomedicine | Protection of enzyme degradation | Limitation on components to make nanoparticles |
Greater permeability through biological membranes | Optimal dose and treatment frequency | |
Better efficacy to act on lysosomes | Unknown effects still in animal model | |
No age limitation | ||
Pharmacological chaperone therapy | Wide distribution in tissues | Off-target effect |
Oral administration | Optimal dose and treatment frequency | |
No immunogenecity | Unknown effects still in animal model |
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Sawamoto, K.; Álvarez González, J.V.; Piechnik, M.; Otero, F.J.; Couce, M.L.; Suzuki, Y.; Tomatsu, S. Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. Int. J. Mol. Sci. 2020, 21, 1517. https://doi.org/10.3390/ijms21041517
Sawamoto K, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, Tomatsu S. Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. International Journal of Molecular Sciences. 2020; 21(4):1517. https://doi.org/10.3390/ijms21041517
Chicago/Turabian StyleSawamoto, Kazuki, José Víctor Álvarez González, Matthew Piechnik, Francisco J. Otero, Maria L. Couce, Yasuyuki Suzuki, and Shunji Tomatsu. 2020. "Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management" International Journal of Molecular Sciences 21, no. 4: 1517. https://doi.org/10.3390/ijms21041517
APA StyleSawamoto, K., Álvarez González, J. V., Piechnik, M., Otero, F. J., Couce, M. L., Suzuki, Y., & Tomatsu, S. (2020). Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. International Journal of Molecular Sciences, 21(4), 1517. https://doi.org/10.3390/ijms21041517