From the Research
Management of SORD deficiency should focus on reducing sorbitol levels using a CNS-penetrant next-generation aldose reductase inhibitor, such as govorestat (AT-007), as it has been shown to ameliorate synaptic dysfunction and neurodegeneration in SORD deficiency. This approach is based on the most recent and highest quality study available, which demonstrated the efficacy of govorestat in reducing sorbitol levels and improving neurological function in a Drosophila model of SORD deficiency 1.
Key aspects of management include:
- Reducing sorbitol levels using govorestat (AT-007) to prevent further nerve damage and improve neurological function
- Regular neurological assessments every 6-12 months to monitor disease progression
- Physical therapy and occupational therapy to maintain muscle strength and function, particularly for patients experiencing neuropathy symptoms
- Pain management using gabapentin or pregabalin for neuropathic pain, as needed
- Genetic counseling for affected individuals and their families, as SORD deficiency is inherited in an autosomal recessive pattern
It is essential to prioritize the reduction of sorbitol levels to prevent further nerve damage and improve neurological function, as the accumulation of sorbitol in tissues is the primary cause of peripheral nerve damage in SORD deficiency 1. The use of govorestat (AT-007) has been shown to be effective in reducing sorbitol levels and improving neurological function, making it a crucial component of SORD deficiency management.