Veterinarians, physicians and scientists at the University of Pennsylvania, School of Veterinary Medicine and Scheie Eye Institute and the University of Florida collaborated on novel gene therapy in dogs for a blinding disease called autosomal dominant retinitis pigmentosa. The group generated a gene therapy construct that introduced genetic material into cells to compensate for abnormal genes or to make beneficial rhodopsin that appears to have application for humans.

Investigators

  • William Beltran, DVM, PhD
  • Gustavo Aguirre, VMD, PhD
  • Artur Cideciyan, PhD
  • Samuel Jacobson, MD, PhD
  • Alfred Lewin, PhD
  • William Hauswirth, PhD

Three key benefits of the findings

  • A canine model for a common and severe form of X-linked retinal degeneration demonstrated that gene therapy successfully stopped photoreceptor cell death and prolonged vision.
  • Results suggest substantial potential and validity in treating and evaluating animals with mid and late-course disease in other neurodegenerative disorders relevant to humans.
  • The study demonstrates the importance of establishing proof of concept in animal models that truly recapitulate the stages of disease of human patients enrolled in phase II/III clinical trials.
Dose–response function and long-term durability of gene therapy intervention at initial disease stage. Treated loci (green) remain near wild-type thickness (thin dashed lines), whereas untreated loci (red) show progressive thinning along the trajectory expected from the natural history of disease (thick dashed lines). PNAS 10/2015, 112 (43) E5844