The MUHC teams up with LSU Health New Orleans to advance Usher Syndrome antisense therapy research

Developing an effective treatment using antisense therapy for vision loss in Usher – a rare genetic disease characterized by concurrent hearing and vision loss – is the long-term goal of a research project led by Jennifer J. Lentz, PhD, Associate Professor at LSU Health New Orleans Neuroscience Center of Excellence and Departments of Otorhinolaryngology, Genetics and Ophthalmology in collaboration with Dr. Robert K. Koenekoop,  Senior Scientist at the Research Institute of the McGill University Health Centre (RI-MUHC) and Chief of  Pediatric Ophthalmology at the Montreal Children’s Hospital of MUHC.  This project was awarded a $1.74 million USD five-year grant by the National Eye Institute of the National Institutes of Health (NIH.).

Usher syndrome, which affects all aspects of life, including health, education, social activities and employment, is associated with mutations in 16 different genes creating four distinct clinical types. Lentz's research targets the human 216A mutation in the USH1C gene that causes Type 1C Usher Syndrome in the Acadian population.  

“The first aim of this study is to identify and characterize an USH1C-ASO drug therapy molecule that most effectively targets the 216A mutation and treats vision loss,” says Lentz.

The second aim is to determine which visual tests are the most likely to document improvement in vision and safety, i.e., the most robust clinical endpoints and identify potential trial participants to guide a clinical trial. Dr. Koenekoop, who is also Professor of Pediatric Surgery, Human Genetics and Ophthalmology at McGill University, will contribute to the research clinical aspect along with Lentz and Dr. Maria Reinoso, Associate Professor of Ophthalmology at LSU Health New Orleans. To date, 62 USH1C patients have been identified in the three participating clinical centers.

“I am extremely excited to continue working with the LSU group headed by Dr. Lentz,” says Dr. Koenekoop. “We, in Montreal, have been following USH1C patients for over 20 years, and this next step in our collaboration and novel study provides solid hope for them”.

The clinical research is additionally supported by a $40,000 donation to Lentz’s and Reinoso’s work from Ush One See Foundation, and a $453,920 grant from Fighting Blindness Canada to Koenekoop’s research.

For more information, read LSU Health New Orleans press release