ReviewOrphanet journal of rare diseases2025
Recent advances in mucopolysaccharidosis IVA treatment.
Review in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed.
- Early Versus Late Enzyme Replacement Therapy in Siblings With Morquio A Syndrome: Insights Into Therapeutic Timing.JIMD reports · 2026Article
- Natural History of Morquio A Syndrome.Journal of inherited metabolic disease · 2026Review
- Clinical and Molecular Characterization of Pakistani Mucopolysaccharidosis Families withGenes · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare lysosomal storage disorder caused by mutations in the GALNS gene, resulting in N-acetylgalactosamine-6-sulfatase (GALNS) deficiency and accumulation of keratan sulfate and chondroitin-6-sulfate. MPS IVA primarily affects the skeletal system, leading to progressive dysplasia and multi-organ involvement. Although enzyme replacement therapy (ERT) with elosulfase alfa is currently the only approved treatment, its clinical benefit on bone pathology is limited due to rapid clearance and poor penetration into avascular cartilage. Strategies to enhance enzyme stability and targeting, such as PEGylated hydrogels and extracellular vesicles, have shown promise in enhancing the biodistribution and stability of GALNS, while pharmacological chaperones, including ezetimibe, pranlukast, and bromocriptine, seem to stabilize GALNS in vitro. Promisingly, gene therapy (GT) has demonstrated significant preclinical progress using adeno-associated virus (AAV), lentiviral (LV), and CRISPR/Cas9 platforms. For instance, AAV vectors employing bone-targeting peptides and tandem promoters improve skeletal manifestations in murine and rat models. Similarly, recent ex vivo LV-based GT studies have opened new avenues in the treatment of MPS IVA. Furthermore, CRISPR/nCas9-based strategies targeting safe harbor loci have successfully restored GALNS activity in MPS IVA fibroblasts and mouse models supporting the notion that gene editing may represent a potential therapeutic approach. On the other hand, antisense-based therapies using modified U7 small nuclear RNAs and circular RNAs offer novel approaches to correct pseudoexon activation from deep-intronic variants while expanding the therapeutic alternatives in MPS IVA. Importantly, recent evidence revealed that mitochondrial dysfunction in chondrocytes may contribute to the pathology of MPS IVA, uncovering new targets beyond GALNS enzyme activity recovery. This review highlights recent advances in the treatment of MPS IVA and discusses new directions to improve outcomes in MPS IVA treatment.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.