According to a relatively recent news release from biopharmaceutical company Applied Therapeutics, Inc., AT-007 received Fast Track designation from the FDA. This therapy, which has also received both Orphan Drug and Rare Pediatric Disease designations, is designed to treat patients with galactosemia.
AT-007
So what is AT-007? Applied Therapeutics describes the treatment as:
an investigational, novel Aldose Reductase Inhibitor (ARI)…which crosses the blood brain barrier into the central nervous system. AT-007 is a once-daily oral compound that inhibits the enzyme aldose reductase, [which] plays a crucial role in the pathogenesis of galactosemia.
Beyond galactosemia, AT-007 is also being evaluated as a potential therapeutic option for patients with SORD deficiency and Phosphomannomutase 2 deficiency – a congenital disorder of glycosylation (PMM2-CDG).
Currently, no approved treatments exist for galactosemia. However, AT-007 does show promise. In animal studies, the therapy reduced galactitol levels, inhibited disease progression, and lessened symptom-related burdens. Similar reductions in galactitol were seen in a Phase 2 clinical trial in adult patients. At this time, Applied Therapeutics is also evaluating the treatment in pediatric patients (aged 2 to 17) with galactosemia.
The Fast Track designation was granted to help Applied Therapeutics hasten the development and review of AT-007. Altogether, the Fast Track program works to this for drugs or biologics intended to treat rare, life-threatening, or serious conditions, or to fill an unmet need within a certain group or population. This may mean that a drug is the first of its kind, or that a serious condition does not have any available treatments. Fast Track designation is also granted to drugs or biologics which show improvement or benefits over currently available therapies. As a bonus, Applied Therapeutics also receives increased FDA communication and assistance, as well as eligibility for Priority Review and Accelerated Approval.
Galactosemia
According to the Genetic and Rare Diseases Information Center (GARD), galactosemia:
which means “galactose in the blood,” refers to a group of inherited disorders that impair the body’s ability to process and produce energy from a sugar called galactose. When people with galactosemia ingest foods or liquids containing galactose, undigested sugars build up in the blood.
Foods or liquids which contain galactose include dairy products, certain fruits and vegetables, and baby formula.
Genetic mutations cause the various forms of galactosemia. In classic (type 1), GALT gene mutations are the cause. This is the most common and severe form of this condition. Symptoms include:
- Failure to thrive
- Cataracts
- Liver dysfunction
- Frequent infections
- Convulsions
- Irritability
- Jaundice (yellowing of the skin and eyes)
- Premature ovarian failure
- Intellectual and developmental delays
- Movement disorders
Next, patients with type 2 galactosemia (galactokinase deficiency) have GALK1 mutations. In this form, many patients only experience cataracts. Finally, in type 3 (galactose epimerase deficiency), GALE mutations are at fault. While some patients may be asymptomatic, others experience many of the symptoms listed above.
Treatment and prognosis depends on which form of galactosemia one has and how quickly it is diagnosed. However, with a galactose free diet, many patients live relatively normal lifespans, though some symptoms may be sustained throughout life.
