Groundbreaking Drug for Rare Metabolic Disease Nears Approval - by Sommya Verma - CollectLo

Groundbreaking Drug for Rare Metabolic Disease Nears Approval

Sommya Verma - CollectLo

Sommya Verma

Content Writer

2 min read . Mar 14

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In a development that could transform the treatment landscape for a devastating inherited disorder, the U.S. Food and Drug Administration has accepted for priority review a new drug application from Applied Therapeutics for its experimental treatment govorestat to treat classic galactosemia.

Galactosemia: A Lifelong Metabolic Crisis

Galactosemia is an ultra-rare metabolic disease that prevents the body from properly breaking down galactose, a sugar found in milk products and produced naturally. This causes a buildup of toxic galactitol that damages the brain, eyes, ovaries and other organs from birth onward.

"Without a way to clear galactose, it accumulates to levels that wreak havoc in a progressive manner," said Dr. Eva Morava, a metabolic geneticist. "Patients face acute crises and lifelong disabilities with no approved treatment options."

A Glimmer of Hope

The lone treatment for the estimated 3,000 U.S. patients has been an extremely restrictive galactose-free diet, which fails to eliminate galactitol toxicity entirely. Govorestat, an aldose reductase inhibitor, aims to block the enzyme that converts galactose into the toxic byproduct in the first place.

In clinical trials involving over 100 children and adults with galactosemia, govorestat rapidly reduced galactitol levels and demonstrated improvements across neurological, speech, motor and other clinical measures.

Expedited Pathway Amid Complex Evaluation

The FDA granted govorestat's application priority review status, reserved for therapies representing major advances in treating serious conditions. This sets an expedited 8-month review timeline, with an action date of August 28, 2024.

However, the novel mechanism and lack of precedent have made the regulatory evaluation complex. The FDA plans to convene an advisory committee to scrutinize the clinical evidence amid differing internal views.

Beyond the FDA decision, Applied Therapeutics faces another hurdle as European regulators continue their own review of govorestat initiated in December 2023 after previously granting it orphan drug designation.

A Potential Breakthrough

"An approval would be transformative, providing the first therapeutic option for this community after decades of having no approved treatments," said Nicole Casale, president of the Galactosemia Foundation patient group.

If successful, govorestat could also demonstrate a pathway for drugmakers to develop targeted therapies for other rare inherited metabolic disorders using enzyme inhibitors and similar mechanisms.

"This has been an immense struggle scientifically and commercially," said Dr. Morava. "A positive outcome could pave the way for more investment in this area going forward."