Shoshana Shendelman, PhD, President and Chief Executive Officer of Applied Therapeutics, discusses the results of the Phase 3 clinical trial testing govorestat to treat galactosemia.



Galactosemia is a rare, metabolic disorder that affects a person’s ability to metabolize galactose. The genetic abnormality involves mutations in the GALT gene that results in the deficiency of the GALT enzyme. The toxic metabolites that accumulate in the cells include galactose-1-phophate and galactitol. Current treatment is to adhere to a very strict dairy free diet.

If left untreated, galactosemia can lead to serious complications such as cataracts, intellectual disability, speech difficulties, and neurological problems.

Recently, Applied Therapeutics announced results of their clinical trial testing govorestat to treat galactosemia in children.

The ACTION-Galactosemia Kids Phase 3 study compared govorestat to placebo in 47 children with galactosemia. The primary endpoint was the Global Statistical Test. This is a composite sum of change comprised of four endpoints: OWLS-2 Oral Expression (OE), OWLS-2 Listening Comprehension (LC), BASC-3 Behavior Symptoms Index (BSI) and the BASC-3 Activities of Daily Living (ADL). As Dr. Shendelman explains, treatment with govorestat demonstrated consistent and sustained clinical benefit on activities of daily living, behavioral symptoms, cognition, adaptive behavior and tremor. However, the primary endpoint did not reach statistical significance (P =.1030).

Dr. Shendelman also noted that a post-hoc analysis of the global statistical test including behavior and activities of daily living but excluding speech & language components (OWLS-OE and OWLS-LC) demonstrated a highly statistically significant benefit of active treatment vs. placebo (P = .0205), which strengthened over time. Govorestat also reduced tremors and improved adaptive skills as assessed by the BASC-3 Adaptive Skills Index (P =.0265).

No treatment-related serious adverse events were reported in the trial.

To learn more about galactosemia and other metabolic conditions, visit