Leber congenital amaurosis type 10

(redirected from LCA10)

Leber congenital amaurosis type 10

A severe autosomal recessive retinal dystrophy (OMIM:611755) causing severe visual impairment at birth or in early infancy, accompanied by olfactory dysfunction. 

Molecular pathology
Caused by defects of CEP290, which encodes a protein of the tectonic-like complex that is required for tissue-specific ciliogenesis and may regulate cilia membrane composition.
References in periodicals archive ?
We were pleased to announce that we initiated our clinical natural history study for our lead program to treat LCA10, and we remain on track to file our IND for EDIT-101, our clinical candidate, in mid-2018.
In a study of transgenic mice carrying a copy of the mutated human gene (CEP290) targeted by our clinical candidate, EDIT-101, we demonstrated efficient transduction and gene editing in the retinal photoreceptor cells, the relevant cell type affected in LCA10 patients.
This study will prospectively evaluate patients with LCA10 across a broad range of ages and disease severity to assess the course of the disease and to pilot potential clinical trial endpoints and designs.
In conjunction, Editas Medicine's lead programme is being developed for the potential treatment of LCA10, a rare, inherited retinal degenerative disease that appears in childhood and leads to blindness.
This agreement provides Editas Medicine with an upfront payment of USD90m for the development of five candidate programmes, the potential to earn additional payments for achieving important near-term milestones specifically related to LCA10,eligible to receive development and commercial milestones, as well as royalty payments on a per-programme basis.
LCA10 is an inherited retinal degenerative disease caused by mutations in the CEP290 gene that appears in childhood and leads to blindness.
In this study, HuCEP290 IVS26 KI mice were treated with EDIT-101 by subretinal injection, resulting in efficient transduction and gene editing in the retinal photoreceptor cells of the mice, which is the cell type affected in LCA10 patients.
To date, we have made significant progress in our LCA10 program.
We are excited by the new data from our Duchenne muscular dystrophy program, as well as the additional results from our LCA10 program and our new data in hematopoietic stem cells.
Leber congenital amaurosis 10 (LCA10) program: Demonstration of Cas9-mediated editing of primary fibroblasts derived from LCA10 patients resulted in elimination of the target CEP290 gene mutation as well as restoration of full-length protein expression.