According to a December 16, 2021 news release from biopharmaceutical company Applied Therapeutics, Inc., the company has initiated a registrational Phase 2/3 INSPIRE clinical trial to evaluate AT-007 for patients with Sorbitol Dehydrogenase deficiency (SORD deficiency). Within this study, researchers hope to learn more about the drug’s safety and efficacy, as well as how it affects biomarkers and overall patient outcomes.

AT-007

So what exactly is AT-007? According to Applied Therapeutics, AT-007 is:

an investigational, novel Aldose Reductase Inhibitor (ARI) being developed for the treatment of several rare diseases. AT-007 is a potent and selective compound, which crosses the blood brain barrier into the Central Nervous System (CNS penetrant).

Outside of SORD deficiency, researchers are also exploring AT-007 for patients with galactosemia and phosphomannomutase 2 deficiency. The treatment has also received both Orphan Drug and Rare Pediatric Disease designations within these spheres.

Within the INSPIRE trial, researchers will explore how aldose reductase inhibition could potentially improve quality-of-life (QOL) and outcomes for those with SORD deficiency. In short, the treatment works by preventing glucose from turning into sorbitol. Sorbitol levels in those with this condition are up to 100x greater than the general population. In previous studies, AT-007 was found to be relatively safe and well-tolerated. It also significantly (by over 50%) reduced sorbitol levels in the blood.

The INSPIRE trial will further these insights by exploring sorbitol reduction levels and overall outcomes following 3 months of treatment. Additionally, researchers will look at improvements in symptoms and mobility.

Sorbitol Dehydrogenase Deficiency (SORD Deficiency)

Applied Therapeutics describes SORD deficiency as:

a progressive, debilitating hereditary neuropathy that affects peripheral nerves and motor neurons, resulting in significant disability, loss of sensory function and decreased mobility.

An estimated 1 in every 100,000 people has SORD deficiency. Previously, researchers found SORD gene mutations in patients once thought to have a subset of Charcot-Marie-Tooth disease type 2 (CMT2) or distal hereditary motor neuropathy. However, researchers now believe these patients have SORD deficiency. The gene mutations prevent the body from producing enough of a key enzyme which normally helps metabolize sorbitol, a type of sugar. As sorbitol builds up in blood and tissues, it causes a number of health issues. Symptoms of SORD deficiency include:

• Difficulty walking
• Tremors
• Progressive neuropathy
• Sensory impairment
• Foot deformities
• Muscle weakness, particularly in the arms and legs

If you believe that you or someone you know has SORD deficiency, you may qualify for free screening from Applied Therapeutics. Email [email protected] to learn more.