Shoshana Shendelman, PhD, President and Chief Executive Officer of Applied Therapeutics, explains the urgency of finding newer treatment options for galactosemia patients.
Galactosemia is a rare, metabolic disorder that affects an individual’s ability to metabolize galactose. The genetic abnormality involves mutations in the GALT gene, resulting in deficiency of the GALT enzyme that breaks down galactose. The toxic metabolites that accumulate in the cells include galactose-1-phophate and galactitol. If left untreated, galactosemia can lead to serious complications such as cataracts, intellectual disability, speech difficulties, and neurological problems. The only treatment currently available is a very strict, dairy-free diet.
Govorestat is a aldose reductase inhibitor in development to treat galactosemia. Recently, a phase 3 clinical trial testing govorestat to treat galactosemia did not meet its primary endpoint but post hoc analysis did suggest the drug is very effective.
To learn more about galactosemia and other genetic conditions, visit checkrare.com/diseases/congenital-and-genetic-conditions/
