Galactosemia is a rare, slowly progressing metabolic disease caused by a genetic inability to break down the sugar galactose.
Galactose is a sugar found in foods, but the human body also naturally produces galactose on its own. People with Galactosemia have mutations or deletions in their DNA that are passed down from family members. The DNA alterations can lead to different subtypes of Galactosemia, such as GALT Deficiency (known as Classic Galactosemia) or GALK Deficiency. Aldose Reductase (AR), an enzyme known to play a role in many diseases including Galactosemia, converts galactose into galactitol, a toxic metabolite that builds up in tissues and organs and can cause long-term disease complications.
Galactose is found in dairy products and certain other foods, but galactose is also naturally produced by the body (endogenously). This means that diet alone cannot prevent the long-term consequences of Galactosemia. A treatment for those living with Galactosemia is needed.
There are about 3,000 individuals with Galactosemia (GALT) in the U.S. and ~3,500 individuals in the EU (GALT + GALK)
Most patients with Galactosemia are under the age of 40, as newborn screening was not widely adopted until the 1980’s
Galactosemia is included as part of routine newborn screening in all 50 U.S. states, and in many European countries
High Unmet medical Need in Galactosemia Treatment
There are currently no approved therapies for Galactosemia.
Currently, the only method of managing Galactosemia is to keep patients on a strict diet that removes any lactose (another type of sugar) or galactose-containing foods and drinks. In babies, this usually means switching from breast milk or milk-based formula to a low galactose formula, such as soy or elemental formula.
However, galactose is also produced by the body. This means that diet alone does not prevent the long-term consequences of Galactosemia. A treatment for those living with Galactosemia is desperately needed.
Our Commitment to Galactosemia Research
Applied Therapeutics is committed to developing a new treatment option for this urgent unmet medical need.
Govorestat is an investigational, novel Aldose Reductase Inhibitor being developed for the treatment of numerous rare diseases. Govorestat is a potent and selective agent being developed as an oral therapy for treatment of Galactosemia. Govorestat is also being developed for the treatment of Sorbitol Dehydrogenase (SORD) Deficiency and Phosphomannomutase 2 Deficiency – a Congenital Disorder of Glycosylation (PMM2-CDG). Govorestat has received Orphan Medicinal Product Designation from the European Medicines Agency (EMA), and both Orphan Drug and Pediatric Rare Disease designations from the FDA for the treatment of Galactosemia. A New Drug Application (NDA) for govorestat has been accepted for priority review with the FDA and a Marketing Authorization Application (MAA) has been validated and is currently being reviewed by the EMA’s Committee for Medicinal Products for Human Use (CHMP) for the treatment of Galactosemia. Additionally, govorestat is currently in pivotal-stage development for the treatment of SORD Deficiency.
HEAR FROM THE PARENTS OF A CHILD WITH CLASSIC GALACTOSEMIA
In the patients & caregivers section
