Identified in 2020, the SORD gene is involved in a relatively frequent form of axonal CMT (CMT 2) and distal hereditary motor neuropathy (dHMN). It is involved in the transformation of sorbitol (toxic to nerves if accumulated in excess) into fructose. A European and American Phase III placebo-controlled clinical trial is evaluating AT-007, an aldose reductase inhibitor that blocks sorbitol production, for two years in 56 patients aged between 16 and 55. One-year results have been announced by Applied Therapeutics:
- sorbitol levels were reduced;
- CMT Health Index score, which assesses disease burden, improved;
- treatment is well tolerated;
- the clinical trial will continue for another year.
Applied Therapeutics Announces Positive Results from 12-month Interim Analysis of Govorestat (AT-007) in the Ongoing INSPIRE Phase 3 Trial in Sorbitol Dehydrogenase (SORD) Deficiency – Applied Therapeutics – 15 Feb 2024 press release
