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Toward a therapy for deafness and blindness in Usher syndrome

Two HMS neurobiologists studying the origins of deafness—Corey and Artur Indzhykulian, HMS assistant professor of otolaryngology at Massachusetts Eye and Ear—are joining forces with Botond Roska, an expert on retinal biology and eye disease at the Institute of Molecular and Clinical Ophthalmology in Basel, Switzerland, to develop treatments for a form of Usher syndrome.

Corey and Indzhykulian’s work will focus on a particularly severe form of the disease, known as Usher syndrome type IF.

Eloxx Pharmaceuticals is developing small molecules that permit read-through of point mutations that cause Usher syndrome 1F and 2A.

from Globe Newswire. The AP news staff was not involved in its creation.
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Gene therapy
Globe Newswire
GlobeNewswire: Medical
PRESS RELEASE: Paid content from Globe Newswire
Eloxx Pharmaceuticals Presents Positive New Data at the Association for Research in Vision and Ophthalmology “ARVO” 2019 Annual Meeting
Eloxx Pharmaceuticals today. Eloxx is evaluating several of its eukaryotic ribosomal selective glycoside (ERSG) molecules in IND-enabling studies for use in the treatment of inherited retinal diseases with an initial focus on Usher Syndrome

Preclinical studies have demonstrated:dose-dependent restoration of missing protein of Usher Syndrome nonsense mutations;encouraging pharmacokinetics in the retina by intravitreal injection;a favorable tolerability profile at high doses in sensitive species

2Ctech, Inc., a privately-held development stage company focused on the application of nanoparticle technologies for the treatment of retinal diseases, announced the initiation of the first-known clinical program to demonstrate the effectiveness and safety of Quantum Dots (QDs) to achieve photovoltaic stimulation of the neural retina for preservation or enhancement of vision in patients with retinal degenerative diseases and, in particular, Retinitis Pigmentosa (RP). In previous pre-clinical and first-in-human trials, a one-time injection of QDs was administered into the vitreous and trial outcomes provided strong evidence of safety and positive indications of meaningful vision enhancement. The next human studies are intended to meet the intent of FDA’s Early Feasibility Study (EFS) program requirements and will be conducted at several US sites.

Scientists describe a method of rendering the gene editing tool CRISPR-Cas9 'immunosilent,' potentially allowing the editing and repair of genes to be accomplished reliably and stealthily.

The study is now using 2-animal models and a significantly larger number of animals in both control and AAGP® treated groups for a longer time frame. Until this study, the longest a group was tested for was 4-weeks. In this study, the lab currently has animals at the 3-month mark. All animals are reported to be healthy and behaving normally. Early results from this intensive program are expected to be presented to the Company by the end of July 2019. This study is being conducted to test whether AAGP® treated cells continue to develop into retinal cells. If successful, this may potentially lead towards the restoration of vision in humans.

Abstract: Gene therapy using adeno-associated viral (AAV) vectors currently represents the most promising approach for the treatment of many inherited retinal diseases (IRDs), given AAV’s ability to efficiently deliver therapeutic genes to both photoreceptors and retinal pigment epithelium, and their excellent safety and efficacy profiles in humans. However, one of the main obstacles to widespread AAV application is their limited packaging capacity, which precludes their use from the treatment of IRDs which are caused by mutations in genes whose coding sequence exceeds 5 kb. Therefore, in recent years, considerable effort has been made to identify strategies to increase the transfer capacity of AAV vectors. This review will discuss these new developed strategies, highlighting the advancements as well as the limitations that the field has still to overcome to finally expand the applicability of AAV vectors to IRDs due to mutations in large genes.

For the first time ever, the Association for Research in Vision and Ophthalmology (ARVO) is taking its annual meeting outside the United States, heading north of the border to Vancouver, British Columbia. ARVO Executive Director Iris Rush discusses the move and what attendees can look forward to at this year’s event, which kicks off April 28.

"Our results suggest that congenital stationary night blindness and Oguchi disease patients can be at an elevated risk of the toxic effects of bright light. Furthermore, systems pharmacology drug regimens that stimulate Gi signaling and attenuate Gs and Gq signaling present a promising disease-modifying therapy for photoreceptor degenerative diseases."

"Regarding photoreceptor implantation, we recently demonstrated a direct contact between the host bipolar cell-end and the presynaptic terminal of the graft photoreceptor by directly implanting retinal tissues derived from murine iPSC into a mouse model of end-stage retinal degeneration. We believe that our findings established a new proof of concept for transplanting ESC/iPSC retinas to restore vision in patients with end-stage retinal degeneration."