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Orphan Drug Designation for Galactosemia Therapy

Devastating Pediatric Disease Can Cause CNS Dysfunction

Applied Therapeutics Inc. has received an orphan drug designation for AT-007, a central nervous system (CNS) penetrant Aldose Reductase inhibitor (ARI) in the late stages of preclinical development for treating children with galactosemia.

Galactosemia, a rare pediatric metabolic disease, affects how the body processes galactose; currently, no known cure or approved treatment are available. Galactose is found in many foods, including dairy products and many baby formulas, but as the body also naturally produces the simple sugar, dietary restrictions cannot prevent disease complications. 

In the U.S., classic galactosemia (type I) occurs in 1/30,000–60,000 newborns. This most common and severe form of the condition causes life-threatening complications within a few days of birth if it is not promptly treated. Symptoms include feeding difficulties, lethargy, failure to thrive, jaundice, liver damage, and abnormal bleeding. Serious complications can include sepsis and shock. Children affected also have an increased risk of delayed development, cataract, speech difficulties, intellectual disability, and premature ovarian insufficiency.

AT-007 reduced toxic galactitol levels and prevented disease complications in an animal model of galactosemia. Applied Therapeutics is planning a biomarker-based development program in patients with galactosemia, based on the recent industry guidance on drug development for low-prevalence, slowly progressing, rare metabolic diseases. The company intends to advance AT-007 into a phase 1/2 clinical trial later this year.

Source: Applied Therapeutics, NIH, May 28, 2019

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