Shondra Shendleman SORD

What is SORD Deficiency: Part 2

by | Mar 11, 2022 | 0 comments

Sorbitol Dehydrogenase (SORD) Deficiency is a recently discovered rare, genetic metabolic disease. 

People with SORD Deficiency are missing a key enzyme needed to metabolize a sugar called sorbitol.

Before the discovery of the SORD gene, patients with SORD Deficiency were diagnosed based on their symptoms as having Charcot-Marie-Tooth disease (CMT2) or distal hereditary motor neuropathy (dHMN). The recent discovery that disease symptoms in CMT2 and dHMN can be caused by genetic mutations in the SORD enzyme now gives people living with SORD Deficiency and their physicians a greater understanding of their specific disease.  It also allows patients to participate in a clinical trial of an investigational new treatment targeting the underlying cause of SORD Deficiency.

HNF has partnered with Applied Therapeutics, a clinical-stage biopharmaceutical company, which is conducting an international phase III randomized interventional trial for patients with Sorbitol Dehydrogenase (SORD) Deficiency called INSPIRE. This trial is designed to investigate the ability of AT-007 versus placebo to reduce toxic sorbitol levels and to evaluate the effect of AT-007 on improving symptoms of the disease over a longer period of time.

Join us for this webinar as we:

  • Understand SORD Deficiency and how it is currently managed
  • Learn about sorbitol and the role it plays in SORD Deficiency
  • Identify the steps to take if you want to be tested for SORD Deficiency
  • Share research that is underway in SORD Deficiency
  • Discuss opportunities to participate in clinical trials for SORD Deficiency

Learn more on this topic

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