RARE Daily

Applied Therapeutics Delays Seeking Approval for Treatment for Rare Metabolic Disease

January 3, 2022

Applied Therapeutics said following discussions with the U.S. Food and Drug Administration it has decided to delay seeking approval for AT-007, its treatment for the rare metabolic condition galactosemia.

Photo: Shoshana Shendelman, CEO, founder and chair of Applied Therapeutics

Shares of Applied Therapeutics fell more than 30 percent in early trading following the news.

Galactosemia is a rare genetic metabolic disease resulting in an inability to metabolize the simple sugar galactose. Galactose is found in foods but is also produced endogenously by the body. When not metabolized properly, galactose is converted to the toxic metabolite, galactitol, which causes neurological complications, including deficiencies in speech, cognition, behavior, and motor skills, and also results in juvenile cataracts and ovarian insufficiency in women. There are approximately 3,000 patients with galactosemia in the United States and 80 new births per year.

AT-007 is a central nervous system penetrant aldose reductase inhibitor (ARI) in development for the treatment of several rare neurological diseases, including galactosemia, SORD Deficiency and PMM2-CDG. In an animal model of galactosemia, AT-007 reduced toxic galactitol levels and prevented disease complications. In clinical trials, AT-007 significantly reduced plasma galactitol levels vs. placebo in adults and children with galactosemia.

AT-007 is currently being studied in a phase 3 clinical outcomes trial in children ages 2-17 with galactosemia, as well as a long-term open label study in adults with galactosemia. AT-007 has received both Orphan Drug and Pediatric Rare Disease designations from the FDA for the treatment of galactosemia and PMM2-CDG, and Fast Track designation for galactosemia.

The company said it plans on having additional discussions with the FDA about the application.

The ongoing ACTION-Galactosemia Kids phase 3 study is evaluating the impact of AT-007 treatment vs. placebo on clinical outcomes over time, including cognition, speech, behavior and motor skills. Clinical outcomes are assessed every 6 months by a firewalled committee. The first assessment will be completed in the first quarter of 2022, and then every 6 months thereafter until the study reaches statistical significance.

“While disappointed by this change in direction by the FDA, we remain committed to bringing this important treatment to patients with galactosemia,” said Shoshana Shendelman, CEO, founder and chair of Applied Therapeutics. “We will continue to work with the FDA to determine the most expeditious path forward to regulatory approval and will provide an update on timing and plans accordingly.”

Author: Rare Daily Staff

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