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Treatment in Fabry disease.

M López Rodríguez1

  • 1Grupo de Trabajo de Enfermedades Minoritarias, Sociedad Española de Medicina Interna (SEMI).

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|April 18, 2018
PubMed
Summary
This summary is machine-generated.

Fabry disease, a genetic disorder, requires enzyme replacement therapy for males with low alpha-galactosidase A. Oral migalastat hydrochloride offers an alternative for specific patients, improving cardiac and GI symptoms.

Keywords:
ChaperonaChaperoneEnfermedad de FabryFabry diseaseMigalastatMultisistémicaMultisystemic

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Pharmacology

Background:

  • Fabry disease is an X-linked genetic disorder resulting from alpha-galactosidase A deficiency.
  • This deficiency leads to the accumulation of glycosphingolipids in cells and tissues.
  • Current treatment guidelines recommend enzyme replacement therapy (ERT) for males with severely deficient enzyme levels.

Purpose of the Study:

  • To review treatment options for Fabry disease, including enzyme replacement therapies and oral chaperones.
  • To highlight the efficacy and safety of available treatments.
  • To discuss treatment indications for different patient populations, including female carriers and males with partial enzyme deficiency.

Main Methods:

  • Review of existing literature on Fabry disease treatments.
  • Analysis of clinical trial data for intravenous agalsidase alpha, agalsidase beta, and oral migalastat hydrochloride.
  • Evaluation of treatment outcomes based on clinical manifestations and biomarkers.

Main Results:

  • Two intravenous human recombinant enzyme formulations, agalsidase alpha and agalsidase beta, demonstrate comparable efficacy and safety.
  • Oral migalastat hydrochloride, a pharmacological chaperone, is effective for patients with amenable mutations.
  • Migalastat hydrochloride treatment resulted in significant improvements in left ventricular mass and gastrointestinal symptoms.

Conclusions:

  • Enzyme replacement therapy with agalsidase alpha or beta is a standard treatment for Fabry disease.
  • Migalastat hydrochloride provides an oral treatment option for selected patients, enhancing enzyme activity.
  • Treatment decisions should consider individual patient characteristics, mutation status, and clinical manifestations.