This week in therapeutics




Licensing status

Publication and contact information

Ophthalmic disease


Centrosomal protein 290 kDa (CEP290)

Cell culture and biochemical studies suggest a truncated form of CEP290 could help treat Leber's congenital amaurosis (LCA) type 10. Mutations in CEP290 have been shown to cause LCA type 10 and other diseases. Functional studies of full-length and truncated forms of CEP290 showed that absence or mutation of its microtubule-binding region disrupts normal microtubule association and causes retinal degeneration. Subsequent studies identified N- and C-terminal domains of CEP290 that were not needed for its normal activity. Planned work includes developing and testing adeno-associated viral (AAV) vector-based therapeutics containing truncated forms of CEP290 in mouse models of LCA.

SciBX 6(40); doi:10.1038/scibx.2013.1137
Published online Oct. 17, 2013

Patent application filed by the University of Pennsylvania; available for licensing

Drivas, T.G. et al. J. Clin. Invest.; published online Sept. 24, 2013;
Contact: Jean Bennett, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pa.