Usher syndrome is the most common genetic cause of combined deafness and blindness. More than 400,000 people are affected by this disorder worldwide. There is currently no cure for Usher syndrome. 

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The Usher Syndrome Coalition is working to raise awareness and accelerate research, while providing information and support to impacted individuals and families. We strive to be the most comprehensive resource for the Usher syndrome community, bridging the gap between researchers and families. Learn more and get involved.  

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.

“We are very pleased with the preclinical results for several of our ERSG compounds demonstrating that they are suitable for intravitreal injection, well-tolerated in a sensitive model species, active against Usher Syndrome mutations and capable of reaching the retina. We look forward to advancing IND-enabling studies in inherited retinal diseases, with an initial focus on Usher syndrome,” - Dr. Matthew Goddeeris, Director of Research, Eloxx Pharmaceuticals

Human retinal progenitor cell therapy from ReNeuron Group is showing positive preliminary results in the company’s ongoing phase 1/2a clinical trial involving patients with retinitis pigmentosa.

The three patients with retinitis pigmentosa (RP) in this phase of the study, two in their 70s and one in their 50s, “have a little remaining visual acuity, and we’ve seen a rather remarkable, very early improvement in best corrected visual acuity on the order of about four lines of vision,” - Richard Beckman, MD ReNeuron chief medical officer. “It’s unlike gene therapy,” Beckman said. “It’s agnostic to genotype. It should work in patients with any type of RP.”

Ophthotech has licensed exclusive rights to develop novel adeno-associated virus (AAV) gene therapy candidates for Best disease and other bestrophinopathies from University of Pennsylvania (Penn) and the University of Florida Research Foundation (UFRF). The agreement allowed Ophthotech to enter talks with Penn and UFRF to acquire a license for novel AAV serotype 2 based gene therapy product candidates for Best disease, an orphan inherited degenerative retinal disease caused by mutations in the BESTI gene. Additionally, Ophthotech says it expects to initiate a Phase I/II clinical trial for the Best disease candidate in the first half of 2021.

What this means for Usher syndrome: If the first clinical trials for Best disease using this novel AVV gene therapy are successful, this means Ophthotech will probably look for other eye-related diseases like Usher syndrome.

RNA, the short-lived cousin to its better-known partner, DNA, is the blueprint for protein production in cells. Joshua Rosenthal told researchers about how the squid and octopuses make prolific use of an enzyme called ADAR to catalyze thousands of single-letter changes to the RNA code. These minor edits alter the structure and activity of proteins that control electrical impulses in the animals’ nerves. Rosenthal’s studies on squids inspired him to hijack ADAR and program it for making precise edits to the human RNA. Additionally, the editing of RNA is reversible, since cells are constantly churning out new copies of RNA. If Rosenthal’s RNA editors work in humans, they could be used repeatedly to treat genetic diseases without confronting the unknown, long-term risks of permanent DNA editing with CRISPR.

What this means for Usher syndrome: Although too early to say, RNA-reversibly editing can develop in an alternative strategy for the repair of point mutations in Usher genes.

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