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Gene therapy for EEC syndrome blindess

blindnesscorneaEEC syndromeepethelial stem cellsgene therapysiRNA

Introduction

The invention identifies siRNA molecules as a potential therapy for corneal blindness and other epithelial system disorders associated with the R279H mutation in the p63 gene in patients with Ectrodactyly Ectodermal Dysplasia Clefting syndrome (EEC).

Technical features

Currently, there is no treatment available for patients suffering from EEC syndrome able to counteract and resolve the premature ageing of their epithelial tissues. In particular, the progressive degeneration of the corneal epithelium leads to severe loss of vision. The invention ranks among potential gene therapies not mediated by viral vectors. The ability of the patented molecules to inhibit the expression of the mutated allele and consequently restore epithelial stem cell function has been demonstrated both in experimental cell lines and in epithelial stem cells from EEC patients.

Future drug development for this rare disease could be formulated as an ophthalmic eye drop/ointment.

Possible Applications

  • Gene therapy for disorders associated with alterations in the epithelial system caused by the R279H mutation in the p63 gene of Ectrodactyly Ectodermal Dysplasia Clefting syndrome.

Advantages

  • Potentially applicable as eye drops / ophthalmic ointment;
  • Not mediated by viral vectors.