Positive Phase 2 Trial Results for Galactosemia Could Lead to Approval of New Therapy

Galactosemia is a rare disease which affects the metabolic system. It causes the body to not be able to process galactose properly. Galactose is a simple sugar present in food and also found naturally in the human body. Unfortunately, due to its natural occurrence, this condition cannot be fixed simply by diet.

When there are high levels of galactose in the body, Aldose Reductase converts the sugar to galactitol (a toxic metabolite). This is what causes harm for galactosemia patients. Symptoms of the condition range from cataracts to CNS dysfunction.

Unfortunately, there has yet to be a treatment for this condition, let alone a cure. But now there’s hope for a new treatment.

About AT-007

AT-007 is a CNS penetrant ARI.

First tested in an animal model for galactosemia, the therapy was found to reduce galactitol levels in the body. Thereby, it prevented typical complications of the disease.

Just this past May, Orphan Drug Designation was granted to AT-007 for galactosemia.

Now, Applied Therapeutics is working to develop a biomarker based program for AT-007 in galactosemia. They have just released positive results from their Phase 2 trial of the drug.

ACTION-Galactosemia Trial

The ACTION-Galactosemia Trial was a Phase 2 study examining AT-007 in adult patients. This was a placebo-controlled, double-blind investigation aiming to evaluate both the safety and the pharmacokinetics of the drug in adult galactosemia patients and 72 healthy volunteers. For patients, biomarker effects were also documented.

All trial participants received the drug once each day for 28 days. The drug is taken orally.

The primary biomarker endpoint in this study was the level of galactitol reduction.

Extremely positive results were found. There was a statistically significant reduction of galactitol in the plasma of treated patients. These reductions were dependent on the dose that participants were given, with higher doses resulting in a greater reduction. Doses ranged up to 20mg/kg. This highest dose resulted in a 45-54% reduction in galactitol from the baseline.

Not only are these effects themselves notable, but the effects were sustained over time and occurred rapidly. Additionally, not a single AE related to the drug was documented in patients or volunteers. This means the drug was well-tolerated.

Next Steps

The company is presenting this full research April 26-29th at the Society for Inherited Metabolic Disorders Annual Meeting in Austin, Texas. However, their work is far from done. These researchers will continue to study the long-term safety of the therapy in adults as the year goes on. Additionally, they plan to begin a pediatric trial within the year.

The ultimate goal is to be able to file for regulatory approval from the FDA in the second half of this year. Although we are still awaiting this milestone, the research that has been done so far has brought hope for AT-007 to be a new treatment option for galactosemia patients of all ages, altering not only the course of their disease, but their quality of life.

You can read more about this new investigative therapy here.


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