Converting rods into cones in a model of retinitis pigmentosa (RP) rescues retinal degeneration

Heritable retinal degeneration is a common cause of visual impairment and blindness, affecting millions of people worldwide. Many research groups have focused on targeted gene therapy as a treatment for these diseases. However, inherited retinal diseases can be caused by mutations in any one of more than 200 genes, and the pathogenic mechanisms of various mutations differ greatly. This was the motivating factor in the work by Dr James C Corbo and his team at the Washington University School of Medicine to develop gene-independent therapies that would be more widely applicable. This work has been published in the Proceedings of the National Academy of Sciences.

New genetic mutations in Bardet Biedl Syndrome identified

UK researchers have identified genetic mutations responsible for Bardet-Biedl Syndrome (BBS), a rare condition that causes blindness, opening the door for personalized treatment and tailored gene therapies.

What is Bardet-Biedl syndrome?
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

QLT announces clinical & regulatory update for oral retinoid program for inherited retinal disease

QLT announced that, following meetings with the U.S. Food and Drug Administration and the European Medicines Agency, the Company believes that it is close to finalizing a pivotal trial protocol for QLT091001 for the treatment of inherited retinal disease such as Leber Congenital Amaurosis (LCA) and Retinitis Pigmentosa (RP) due to mutations in the LRAT and RPE65 genes, both orphan indications.

The Company expects to provide final guidance on its development plans in these indications before the end of the first quarter of 2014 after final feedback from the European regulatory agency.

Additionally, QLT has initiated recruitment of subjects for a Phase IIa proof-of-concept trial of its drug candidate, QLT091001, in adult subjects with Impaired Dark Adaptation (IDA), a condition that results in decreased ability to recover visual sensitivity in the dark after exposure to bright lights.

The Company also announced the launch of a compassionate use program for QLT091001 in LCA and RP, as well as plans for a patient registry and an update on its retreatment study in these indications.

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