Enzyme replacement therapy of fabry disease

@article{Clarke2007EnzymeRT,
  title={Enzyme replacement therapy of fabry disease},
  author={Joe T. R. Clarke and Robert M Iwanochko},
  journal={Molecular Neurobiology},
  year={2007},
  volume={32},
  pages={43-50}
}
Fabry disease is an X-linked lysosomal storage disease caused by deficiency of the enzyme α-galactosidase A and results in pain, progressive renal impairment, cardiomyopathy, and cerebrovascular disease. The results of two major randomized, double-blind, placebo-controlled clinical trials and open-label extensions have shown that replacement of the deficient enzyme with either of two preparations of recombinant human α-galactosidase A, agalsidase-alfa, and agalsidase-beta is safe. Biweekly IV… 

Agalsidase alfa (Replagal™) in the treatment of Anderson-Fabry disease

  • G. Pastores
  • Medicine, Biology
    Biologics : targets & therapy
  • 2007
TLDR
Agalsidase alfa (Replagal™) is a recombinant formulation of human AGAL which has been demonstrated to modify the course of AFD in treated patients, and budding strategies such as chaperone-mediated enzyme enhancement may offer the potential for an alternative or multimodality approach to the management ofAFD.

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

TLDR
A linear regression showed that Fabry patients receiving agalsidase alfa are more likely to have higher rates of composite endpoints compared to those receiving agalidase beta, which is associated to a significantly lower incidence of renal, cardiovascular and cerebrovascular events than no ERT.

Agalsidase alfa (ReplagalTM) in the treatment of Anderson-Fabry disease

TLDR
Budding strategies such as chaperone-mediated enzyme enhancement may offer the potential for an alternative or multimodality approach to the management of AFD.

Morbus Fabry : Eine interdisziplinäre Herausforderung

TLDR
The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of fabry disease: a review of the literature is reviewed.

Development of Organelle Replacement Therapy Using a Stearyl-Polyhistidine Peptide against Lysosomal Storage Disease Cells

TLDR
The application of His16 peptide as a DDS carrier against lysosomal storage disease (LSD) cells and His16-Lyso are promising candidates as a treatment tool for LSD cells are suggested to establish a foundation for organelle replacement therapy (ORT).

Perspectives of 1H-NMR-based urinary metabonomics in Fabry disease.

TLDR
This preliminary study shows that 1H-NMR-based urinary metabonomics can potentially be used for characterizing the biochemical mechanisms underlying the disease and, hopefully, for early diagnosis of Fabry disease.

Alternative Future Therapies for Lysosomal Storage Diseases: Embryonic Stem Cell- and Induced Pluripotent Stem Cell Therapy

TLDR
This chapter provides an overview of (iPSC) technology and discusses ESC therapy and iPSC therapy in the context of their potential application in lysosomal storage diseases.

Clinical applications involving CNS gene transfer.

Inborn errors of metabolism: the flux from Mendelian to complex diseases

TLDR
It is argued that the direct and dynamic measurement of metabolite flux will facilitate the integration of environmental, genetic and biochemical factors with phenotypic information, which will lead to new diagnostic and therapeutic approaches that are focused on the manipulation of these pathways.

References

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Enzyme replacement therapy in Fabry disease

TLDR
It is shown that enzyme replacement therapy offers promise as an effective management strategy for patients with Fabry disease, and patients reported a normalization of sweating and improvements in their level of energy and sense of well-being.

Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study

TLDR
It is concluded that enzyme replacement therapy with agalsidase alfa was safe and effective in female patients heterozygous for Fabry disease.

Enzyme replacement therapy in Fabry disease: a randomized controlled trial.

TLDR
Intravenous infusions of alpha-gal A are safe and have widespread therapeutic efficacy in Fabry disease and there was an approximately 50% reduction in plasma glycosphingolipid levels, a significant improvement in cardiac conduction, and a significant increase in body weight.

Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study.

TLDR
Preliminary evidence that ERT with agalsidase beta, 1 mg/kg every 2 weeks, is safe and often effective against extra-renal manifestations in kidney transplant patients with Fabry disease is provided.

Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.

TLDR
Findings indicate a striking reversal of renal glycosphingolipid accumulation in the vasculature and in other renal cell types, and suggest that long-term treatment with r-halphaGalA may halt the progression of pathology and prevent renal failure in patients with Fabry disease.

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.

TLDR
Recombinant alpha-galactosidase A replacement therapy cleared microvascular endothelial deposits of globotriaosylceramide from the kidneys, heart, and skin in patients with Fabry's disease, reversing the pathogenesis of the chief clinical manifestations of this disease.

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

TLDR
The abnormal rCBF response induced by visual stimulation and acetazolamide decreased significantly following enzyme replacement therapy, as did the prolonged recovery of the cerebral vasculature.

Enzyme replacement therapy by renal allotransplantation in Fabry's disease.

TLDR
The data do not support the hypothesis that enzyme replacement by renal transplantation is effective in correcting the basic metabolic defect in patients with Fabry's disease.

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Replacement therapy for inherited enzyme deficiency. Use of purified ceramidetrihexosidase in Fabry's disease.

TLDR
It is indicated that exogenous glucocerebrosidase causes definite decreases in the quantity of accumulated lipid in patients with Gaucher's disease.
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