Leber congenital amaurosis type 10

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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 ?
'In the first half of 2019, we made tremendous progress towards accomplishing the goals set out in ProQR's Vision 2023 strategy, which includes starting the Phase 2/3 trial for sepofarsen in LCA10 patients, initiating the first-in-human trial for QR-421a for usher syndrome type 2 and advancing QR-1123 further towards the clinic,' said Daniel A.
The Brilliance clinical trial is a Phase 1/2 study to evaluate AGN-151587 for the treatment of LCA10. The study will assess safety, tolerability, and efficacy in approximately 18 patients.
M2 PHARMA-July 24, 2019-Iveric bio Advances LCA10 Minigene Programme and Expansion of Orphan Gene Therapy Portfolio with USH2A-Related Inherited Retinal Diseases Programme
Allergan plc, a leading global pharmaceutical company, and Editas Medicine, Inc., a leading genome editing company, announced that Allergans wholly-owned subsidiary, Allergan Pharmaceuticals International Limited (Allergan), has exercised its option to develop and commercialize EDIT-101 globally for the treatment of LCA10. Additionally, the two companies announced that Editas Medicine has exercised its option to co-develop and share equally in the profits and losses from EDIT-101 in the United States.
Similarly, subretinal injection of a dual AAV2/5 CRISPR/Cas9 system in mice deleted the wild-type mouse intron 25 of the causative LCA10 gene CEP290 [106].
Under the terms of the agreement, Allergan will receive exclusive access and the option to license up to five of Editas Medicine's genome-editing ocular programmes, including its lead programme for Leber Congenital Amaurosis (LCA10), which is currently in pre-clinical development.
Allergan (AGN) and Editas Medicine (EDIT) announced initial data from the ongoing natural history study to evaluate patients with Leber congenital amaurosis 10, or LCA10, a rare form of blindness caused by mutations in the CEP290 gene.
Our lead candidate, EDIT-101 to treat the genetic disease LCA10, is poised to be the first in vivo CRISPR medicine in human trials with an anticipated IND filing in October.
"The start of the ILLUMINATE trial marks an important milestone towards our goal of bringing this novel and most advanced therapy for LCA10 to patients," commented Dr.
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.
Editas Medicine, Inc., a leading genome editing company, today announced results from a pre-clinical study in transgenic mice demonstrating dose-dependent, in vivo editing using EDIT-101, Editas Medicines pre-clinical product candidate for the treatment of Leber Congenital Amaurosis type 10 (LCA10).
Published results detail the development of EDIT-101, an experimental genome editing medicine designed to remove the abnormal splice donor created by the IVS26 mutation in the CEP290 gene found in LCA10 patients and restore normal CEP290 expression.