Usher Syndrome Gene Therapy Study Begins in Oregon

March 06, 2012
The first-ever gene therapy for Usher syndrome, a devastating condition that causes both blindness and deafness, has moved into a Phase I/IIa clinical trial at the Foundation-funded Casey Eye Institute, Oregon Health & Science University (OHSU). The research team, led by Dr. Richard Weleber, is preparing to treat its first patient.

Developed by Oxford BioMedica, a biopharmaceutical company in the U.K. and a Foundation partner, the UshStat® treatment is designed to halt vision loss in people affected with Usher syndrome type 1B, which is caused by defects in the MY07A gene. Based on results in lab studies, researchers believe a single UshStat treatment may last several years, perhaps a lifetime.

“We are delighted to see Oxford’s innovative gene therapy for Usher 1B move into human studies. It is a critical milestone in our campaign to overcome vision loss from a particularly challenging condition,” says Dr. Stephen Rose, the Foundation’s chief research officer. “UshStat is great news for the Usher syndrome community, because there are virtually no vision-related treatment options available for any form of the disease. While the treatment is for Usher 1B, success in the trial will open the door for using gene therapy to treat other forms of Usher syndrome.”

UshStat is the third Oxford BioMedica gene therapy to move into a clinical trial. StarGen, the company’s gene therapy for Stargardt disease, is in a Phase I/IIa human study at OHSU and the Centre Hospitalier Nationale d'Ophthalmologie des Quinze-Vingts in Paris. The company’s RetinoStat®, a gene therapy for wet age-related macular degeneration, is in a Phase I clinical study at Wilmer Eye Institute at Johns Hopkins Hospital in Baltimore, Maryland.

Oxford says that the first six patients in the RetinoStat trial and the first four in the StarGen study are doing well. No safety issues or adverse events have occurred. The company will report additional results for RetinoStat in the first half of 2012 and for StarGen in the second half of the year.

The two-year UshStat study will enroll 18 patients affected by Usher syndrome type 1B. One eye of each patient will be injected with the therapy. The trial will evaluate the treatment’s safety as well as changes in retinal function of the treated eye versus the untreated eye.

To participate in the UshStat trial, patients will need to be 18 years or older and have had a genetic test confirming the diagnosis of Usher syndrome type 1B. For more information on trial participation, visit the clinical trials page of the Foundation’s website, which requires registration.

The UshStat treatment is contained in a tiny drop of liquid that is injected beneath the retina and absorbed by retinal cells in a matter of hours. The treatment uses Oxford’s LentiVector® gene delivery technology, a re-engineered virus, to enable healthy copies of the MYO7A gene to penetrate the cells. A key benefit of the LentiVector technology is its ability to deliver large genes, like MYO7A, which other viral systems are not able to deliver.

Usher syndrome is the leading cause of combined deafness and blindness in the world. It affects approximately 45,000 people in the United States. There are three primary types of Usher syndrome, designated by numerals, and 12 subtypes, designated by letters.

“We are excited about the potential for our powerful gene therapy technology to save and restore vision, and we are grateful to the Foundation Fighting Blindness for playing a critical role in moving it out of the lab and into clinical trials. It has been an outstanding partnership,” says Stuart Naylor, Ph.D., chief scientific officer, Oxford BioMedica.