Pharmacodynamic EffIcacy and Clinical Benefit of AT 007 in Patients With Sorbitol Dehydrogenase (SORD) Deficiency

This international, multi-center, randomized, double-blinded, placebo-controlled, phase 2-3 study is designed to assess the pharmacodynamic (PD) efficacy of AT-007 treatment, as well as the clinical benefit of long term administration to patients with SORD Deficiency utilizing a series of functional, patient-reported, and clinical outcomes measures.Safety and pharmacokinetics (PK) of AT-007 will also be evaluated. The study consists of Biomarker and Efficacy Assessments and an open-label extension (OLE) of active treatment for qualified patients. Patients (18-55 years old) with SORD deficiency will be stratified according to their 10MWRT score (a single component of the CMT-FOM) and sex (male vs female). They will then be randomized in a 2:1 ratio to AT-007 20 mg/kg once daily (QD) or placebo. The study will be conducted at up to 13 sites worldwide. A total of up to 72 subjects will be enrolled.