Elosulfase Alfa: A Review of Its Use in Patients with Mucopolysaccharidosis Type IVA (Morquio A Syndrome)

@article{LysengWilliamson2014ElosulfaseAA,
  title={Elosulfase Alfa: A Review of Its Use in Patients with Mucopolysaccharidosis Type IVA (Morquio A Syndrome)},
  author={K. Lyseng-Williamson},
  journal={BioDrugs},
  year={2014},
  volume={28},
  pages={465-475}
}
Elosulfase alfa (Vimizim®) is a recombinant form of the human lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS) that is lacking in patients with mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome). It is the first, and currently only, disease-specific treatment option for this very rare, progressively degenerative, autosomal-recessive lysosomal storage disorder. Enzyme replacement therapy with elosulfase alfa aims to restore GALNS activity, thereby preventing the accumulation… Expand
Enzyme Replacement Therapy with Elosulfase alfa for Mucopolysaccharidosis IVA (Morquio A Syndrome): Milestones and Challenges
TLDR
Although the treatment was well tolerated along all clinical trials, all patients developed antibodies against the infused enzyme, and more analyses need to be performed to reach final conclusions on the effect of immune response and elosulfase alfa treatment response. Expand
[Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy].
TLDR
Elosulfase alfa showed in clinical trials in children and adults a significant and sustained improvement in endurance and urinary levels of keratan sulfate, and data from the ongoing observational, multinational Morquio A Registry Study will provide valuable information on the long-term efficacy and safety of elosulfases alfa in patients. Expand
Characterization of disease-specific chondroitin sulfate non-reducing end accumulation in mucopolysaccharidosis IVA.
TLDR
An assay for the liberation and measurement of N-Acetyl-D-galactosamine 6-sulfate is described and its application to MPS IVA patient samples is explored in pilot studies examining disease detection, effects of age, and treatment with enzyme replacement therapy. Expand
Atypical Presentation of Mucopolysaccharidosis . Morquio ’ s Syndrome ( Type IV-B ) : A Morbid Entity
Mucopolysaccharidosis (MPS) are a group of metabolic disorders of the lysosomal storage disease family caused by the absence or malfunctioning of lysosomal enzymes, which blocks degradation ofExpand
Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses.
TLDR
Regular ECG should be routinely warranted in children with MPS and early ERT are recommended, as the absence of Cardiac murmurs does not exclude the heart involvement. Expand
Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.
TLDR
While the UPLC-MS/MS urine KS method is 100% sensitive for the detection of patients with MPS IVA, elevated urine KS is not specific for this condition, and caution is advised when interpreting urinary keratan sulfate results. Expand
Diagnosis of Mucopolysaccharidosis Based on History and Clinical Features: Evidence from the Bajio Region of Mexico
TLDR
In a majority of patients with mucopolysaccharidosis, the radiological data of the disease were found: they were most severe in type IV and type VI, mild in type I and II, and none in MPS III. Expand
UPLC–MS/MS analysis of keratan sulfate from urine samples collected on filter paper for monitoring & follow-up of Morquio A patients
TLDR
This collection procedure can be performed by patients at home and filter papers sent by regular mail to a specialized laboratory, facilitating follow-up of patients. Expand
Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives
TLDR
An overview of the biomedical causes of LDs, their socio‐medical relevance, treatment modalities and caveats, experimental alternatives, and future treatment perspectives is offered. Expand
Intravitreal implantation of TPP1-transduced stem cells delays retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis.
TLDR
Findings indicate that ex vivo gene therapy using autologous stem cells is an effective means of achieving sustained delivery of therapeutic compounds to tissues such as the retina for which systemic administration would be ineffective. Expand
...
1
2
...

References

SHOWING 1-10 OF 46 REFERENCES
Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment.
TLDR
An overview of the clinical manifestations, diagnosis and symptomatic management of patients with MPS IVA is provided and potential perspectives of ERT and HSCT are described. Expand
Enzyme Replacement in a Human Model of Mucopolysaccharidosis IVA In Vitro and Its Biodistribution in the Cartilage of Wild Type Mice
TLDR
It is shown that enzyme replacement therapy with recombinant human GALNS results in clearance of keratan sulfate accumulation, and that such treatment ameliorates aberrant gene expression in human chondrocytes in vitro. Expand
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study
TLDR
Elosulfase alfa improved endurance as measured by the 6MWT in the weekly but not qow dose group, did not improve endurance on the 3MSCT, reduced urine KS, and had an acceptable safety profile. Expand
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
TLDR
A history of defining MPS IVA and how the understanding of the disease manifestations has changed over time is presented and the classical phenotype is contrasted with attenuated cases, which are now being recognized and diagnosed more frequently. Expand
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
TLDR
Molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GAL NS gene believed to negatively impact GALNS protein function, of which 39 are previously unpublished, together with 26 single-nucleotide polymorphisms. Expand
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A)
TLDR
Heterogeneity in GALNS gene mutations accounts for an extensive clinical variability within MPS IVA, and the importance of the relationship between methylation status and distribution of transitional mutations at CpG sites at the GAL NS gene locus was elucidated. Expand
Diagnosing mucopolysaccharidosis IVA
TLDR
A diagnostic testing algorithm is presented which attempts to streamline this complex testing process and requires agreement of clinical, radiographic, and laboratory findings. Expand
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose
TLDR
The cases presented here illustrate the importance of considering MPS in the differential diagnosis of certain skeletal dysplasias/disorders, including MED, some forms of spondylo-epiphyseal dysplasia (SED), and bilateral Perthes-like disease. Expand
International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
TLDR
This study conducted a study in which MPS IVA patients were asked to fill out a questionnaire with inquiries regarding family history, diagnosis, signs and symptoms, height, weight, surgical history, physical activity, and general complaints to provide a reference for assessment of efficacy for studies of novel therapies. Expand
Current and emerging management options for patients with Morquio A syndrome
TLDR
The current and emerging treatment options for Morquio A syndrome are discussed, citing examples of the treatment of other mucopolysaccharidoses. Expand
...
1
2
3
4
5
...