New Treatment Could Help Infants with Rare Disease

October 12, 2020

Families of infants with a rare and devastating metabolic disease could soon have their first chance at treatment.

That’s because the Food and Drug Administration has granted orphan drug status for a new medication that treats what’s known as galactosemia. The disease affects how the body metabolizes galactose, a simple sugar found in dairy products but also naturally produced by the human body. Infants with galactosemia have too much galactose in their blood, which can lead to serious complications. 

Babies with the disease may have problems eating and tend to lose weight, also known as failure to thrive. Without diagnosis and intervention, galactosemia can be life threatening in newborns. In the most severe cases, if it is not treated within a few days after birth, sepsis and shock can occur. Children affected also have an increased risk of delayed development, cataracts, speech difficulties, intellectual disability and infertility for women.

The possibility of future treatment, then, is exciting news for families of the 2,800 patients in the United States managing the rare disease. 

Galactosemia is inherited from both parents. It is usually diagnosed as part of newborn screening programs. Because the condition is so rare, however, parents often struggle finding information about the disease once their child receives a diagnosis. Making matters worse, there is currently no known cure or approved treatment.    

That’s why the formal designation for the developing drug could not have come at a better time. Referred to as AT-007, the medication is in the middle of clinical development. So far, results have been promising. The drug is taken orally, and it has already reduced toxic levels of the simple sugar galactose and prevented disease complications in an animal model. 

By granting orphan drug status, the FDA acknowledges the urgency of discovering treatments for rare pediatric disease patients and offers hope for the first time to families facing this rare disease. The drug is set to advance to the next phase of the clinical trial later this year. 

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