Orphan Disease

Oculopharyngeal Muscular Dystrophy (OPMD)

The Disease

  • OPMD is a rare, progressive muscle-wasting disease caused by a mutation in the poly(A)-binding protein nuclear 1 (PABPN1) gene with an estimated prevalence of 15,000 patients in Western countries.
  • The disease is characterized by eyelid drooping, swallowing difficulties (dysphagia), proximal limb weakness, and death due to aspiration pneumonia and malnutrition.
  • Clinical symptoms of OPMD typically present between 40-60 years of age.
  • Dysphagia is a severe, life-threatening complication of OPMD and can lead to chronic choking, regurgitation, aspiration pneumonia, and in severe cases, death.
  • There is currently no effective drug therapy for OPMD. Available interventions are limited to temporary palliative care and do not address underlying progressive muscle weakness.

The Benitec Approach

  • We believe our ddRNAi approach to ‘silence and replace’ the mutant PABPN1 protein will result in the correction of the muscular dystrophy and other key clinical features of OPMD including progressive atrophy and muscle weakness associated with nuclear aggregates of insoluble PABPN1. Our proprietary approach combines the essential elements of the initial two-vector system into a single recombinant AAV vector.