logo
Menu

This search function provides links to outputs produced by NIHR Innovation Observatory. These are briefing notes or reports on new or repurposed technologies. This search will not return all technologies currently in development as these outputs are produced as required for our stakeholders.

Innovation Observatory > Reports > Drugs > Migalastat for Fabry disease in children aged 12 to 15 years

< Back

Migalastat for Fabry disease in children aged 12 to 15 years

Drugs

Endocrine, Nutritional and Metabolic

October 2019


Migalastat is in clinical development for the treatment of Fabry disease for children aged 12 to 15 years old. Fabry disease is a rare genetic disorder caused by a defective gene (the GLA gene) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown (metabolism) of a lipid (fatty substance) in the body called globotriaosylceramide abbreviated GL-3. When the proper metabolism of this lipids does not occur, GL-3 accumulates and leads to cell damage. The cell damage causes a wide range of symptoms including potentially life-threatening consequences such as kidney failure, heart attacks and strokes often at a relatively early age.
Migalastat works by stabilizing the body’s own dysfunctional enzyme, so it can clear the accumulated disease substrate in patients who have amenable mutations. Migalastat is currently licenced for patients aged 16 or over with Fabry disease and an amenable mutation. If the license is extended, migalastat may offer an additional treatment option for paediatric subjects 12 to 15 years old with Fabry disease and an amenable mutation, who weight over 45Kgs.

Innovation Observatory Voice 0

Leave a Reply

Your email address will not be published. Required fields are marked *

Post Comment

Download Full Article



 

Connect to the Innovation Observatory

Twitter

Load More Related Posts

Get Alerts