Galactosemia is a devastating, rare, inherited disorder that affects how the body metabolizes a type of sugar called galactose. Galactose is found in foods, but the human body also naturally produces galactose on its own. Galactosemia has no known cure or approved treatment.
(Classic Galactosemia and GALK Deficiency)
In the first subtype (Classic Galactosemia and GALK Deficiency), patients completely lack the enzymes necessary to metabolize galactose normally. In these patients, despite strict dietary restrictions, galactose produced by the body builds up and triggers an enzyme called Aldose Reductase to convert galactose into galactitol, a toxic substance that causes long-term complications. It is the most severe type of Galactosemia.
(reduction in GALT enzyme)
In the second subtype (Clinical Variant Galactosemia), patients have reduced but significant levels of enzymes. This is a less serious type of Galactosemia, as existing enzyme levels are able to break down the galactose that is naturally produced by the body. If these patients restrict their dietary intake of galactose, they can expect to live normal lives without any long-term health consequences.
Classic Galactosemia and GALK Deficiency can greatly affect children’s development potential and quality of life, causing severe and permanent motor, speech and cognitive deficiencies; cataracts; tremor; and ovarian insufficiency.
There is a misperception that limiting galactose from the diet can completely resolve any physical or developmental complications of Galactosemia, but this is not true. In patients with severe enzyme deficiencies (such as Classic Galactosemia and GALK Deficiency), dietary restrictions cannot prevent these long-term consequences because the human body naturally produces galactose.
At Applied Therapeutics, we are committed to advancing research in Galactosemia and potentially finding a new treatment option for this urgent unmet medical need. Our pipeline candidate AT-007 is a novel investigational oral, potent, CNS-penetrant inhibitor of Aldose Reductase in preclinical development for Galactosemia.
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