SORD

• Research type

  Research Study

• Full title

  A Randomized, Double-Blind, Placebo-Controlled, Two-Part Study to Evaluate the Pharmacodynamic Efficacy and Clinical Benefit of AT 007 in Patients with Sorbitol Dehydrogenase (SORD) Deficiency

• IRAS ID

  1005537

• Contact name

  Riccardo Perfetti

• Contact email

  rperfetti@appliedtherapeutics.com

• Sponsor organisation

  Applied Therapeutics Inc.

• Eudract number

  2022-000491-18

• Research summary

  Sorbitol dehydrogenase is a protein that helps to break down the sugar sorbitol so that the body can use the sugar for energy. Sorbitol is a type of sugar that is formed from glucose. SORD Deficiency is a genetic disorder caused by a mutation (which is a change in your DNA) in the SORD gene (which carries the instructions to make proteins) and causes an increased level of sorbitol in the blood and tissue. This can then lead to serious complications, such as arm or leg weakness, foot deformities, tremors, difficulty walking, and decreased ability to feel sensations of touch. Approximately 7,000 people world-wide have been diagnosed with this genetic disorder. Currently, there are no therapies available for the treatment of SORD Deficiency.
  Applied Therapeutics, Inc. is developing an investigational product, AT-007, which decreases the levels of sorbitol in the blood by blocking an enzyme called aldose reductase.
  The purpose of this study is to investigate the blood sorbitol levels in the body when AT-007 is given. This study will also look at the effect of AT-007 on various signs and symptoms associated with the SORD deficiency and whether or not they change over time.
  The study includes 2 main parts (Part A and Part B) and an open-label extension (OLE). Part A is the first 3 months of the study treatment period and Part B is the subsequent 21 months of the study treatment period. During Part A and Part B (also referred to collectively as the main study), participants will take study drug (either AT-007 or placebo [inactive substance that looks and tastes just like AT 007 but does not contain any active ingredient]) but they will not know which. If they were on placebo, they will be offered to enter the extension part of the study during which they will receive open-label (meaning that you will know what you are getting) AT-007 for 2 years.

• REC name

  London - City & East Research Ethics Committee

• REC reference

  22/LO/0328

• Date of REC Opinion

  13 Jun 2022

• REC opinion

  Further Information Unfavourable Opinion