What Is SORD Deficiency?

Sorbitol Dehydrogenase (SORD) Deficiency is a recently discovered rare genetic metabolic disease. People with SORD Deficiency are missing a key enzyme needed to break down a sugar called sorbitol in the body.

Before the discovery of the SORD gene, patients with SORD Deficiency were diagnosed based on their symptoms as having Charcot-Marie-Tooth disease type 2 (CMT2) or distal hereditary motor neuropathy (dHMN). The discovery that symptoms in CMT2 and dHMN can be caused by genetic mutations affecting the SORD enzyme now gives patients and their physicians a more precise understanding of the underlying condition. It also opens the door for patients to participate in clinical trials of investigational treatments that target the root cause of SORD Deficiency.

HNF and Applied Therapeutics: The INSPIRE Trial

HNF partnered with Applied Therapeutics, a clinical-stage biopharmaceutical company, which conducted an international Phase III randomized trial for patients with SORD Deficiency called INSPIRE. This trial was designed to investigate whether AT-007 could reduce toxic sorbitol levels and improve symptoms of the disease over time, compared to placebo.

Webinar Topics

This webinar covered the following:

  • Understanding SORD Deficiency and how it is currently managed
  • The role of sorbitol in SORD Deficiency
  • Steps to take if you want to be tested for SORD Deficiency
  • Research underway in SORD Deficiency
  • Opportunities to participate in clinical trials for SORD Deficiency

To learn more about research participation, visit the GRIN Registry.