Use of migalastat for treating fabry disease in pregnant patients

Abstract

Provided are methods of treating a patient diagnosed with Fabry disease. Certain methods treat a pregnant patient with a therapeutically effective dose of migalastat or a salt thereof. Other methods treat a patient of childbearing potential with a therapeutically effective dose of migalastat or a salt thereof. Also described are the successful outcomes of pregnancies during which the pregnant patient is treated with migalastat.

Description

technical field [0001] The principles and embodiments of the present invention generally relate to the use of pharmacological partners for the treatment of Fabry disease, especially in pregnant women or patients of childbearing potential. [0002] Reference Sequence Listing [0003] The sequence listing text file submitted with this article is identified as "00790785.TXT" (22Kb, created on February 6, 2019), and is incorporated herein by reference. Background technique [0004] Many human diseases are caused by mutations that result in changes in the amino acid sequence of proteins that reduce protein stability and possibly prevent their proper folding. Proteins are normally folded in a specific region of the cell called the endoplasmic reticulum, or ER. Cells have quality control mechanisms that ensure that proteins are folded into their correct three-dimensional shape before they can move from the ER to their proper destination in the cell, a process commonly referred to...

AI Technical Summary

Problems solved by technology

However, developmental toxicity was observed when elevated doses were tested in pregnant rabbits

Although these doses are also maternally toxic, migalastat is not currently recommended for use during pregnancy

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