As a result of recent collaboration between Yale researchers and a local biotechnology firm, people with age-related macular degenetation (AMD) — the leading cause of blindness among those over age 60 in the developed world — may soon be able to hold on to their sight.
Capitalizing on ground-breaking research headed by Josephine Hoh at the Yale School of Public Health and Gregory Hagemen from the University of Iowa, Optherion Inc., a biotechnology company based in New Haven, is developing a novel diagnostic approach to the disease — a drug that stops the disease in its tracks — with the aid of $37 million the company recently raised toward the research.
“We are extraordinarily pleased to have these discoveries so rapidly and substantially supported as they are translated into valuable diagnostics,” John Puziss, Director of Technology Licensing for Yale’s Office of Cooperative Research, said.
AMD results from damage to the macula, an area in the retina of the eye that plays a central role in vision. The condition comes in two forms: a “dry” form, which is more common and is a precursor to the more advanced, irreversible “wet” form, which is triggered by the growth of blood vessels in the retina.
The few drugs currently available to AMD patients treat only the wet version of the disease and mainly treat symptoms, as opposed to the underlying condition, Amanda Hayward, a representative from Optherion, Inc., said. Optherion’s preventative approach is the first of its kind in the field, she said.
“This will really be the first option out there for patients with dry AMD,” she said. “We’re really hoping that the therapeutic drug will halt the progression of the disease. We want to target the underlying cause of the disease and stop it at a crucial stage before it causes blindness.”
The new drug is based on a 2005 research finding by Hoh and Hagemen that linked two proteins, Complement Factor H (CFH) and Complement Factor B (CFB), to AMD and suggested they will act to mimic Factor H.
Normally, these proteins suppress an alternative immune system pathway, so that the normal immune pathway acts dominantly, Optherion CEO and President Colin Foster said. But in AMD patients, he said, a mutation in the gene for one or both of these proteins makes them unable to suppress the alternative pathway, leading to its over-expression and creating tissue damage in the macula.
“The drug is a replacement therapeutic that acts as Factor H,” Foster said. “In that absence of the function of Factor H, we are giving people back an active form of the protein. We are replacing a function that is lost in the AMD patient.”
Because mutations in the CFH gene alone cause 50 percent of AMD cases and mutations of a combination of the CFH and CFB genes account for another 25 percent, Hoh and Hagemen’s discovery is crucial to understanding the disease, Foster said.
The company is currently engaged in testing and modifying the drug, but also plans to develop tests that can screen, diagnose and monitor the disease, Hayward said. In addition, Optherion has in place long-term goals intended to expand its focus to include the diagnosis and treatment of other related chronic diseases, representatives said.
“Traditionally, there haven’t been many forms of medication available to those suffering from what is a hugely devastating disease — mainly because its causes weren’t understood,” Foster said. “This intriguing correlation between the disease and factor H has really re-directed our understanding of its mechanisms of action in the body.”
While the collaboration between Optherion and Yale is the first of its kind, Foster said he anticipates their proximity to each other will give them more opportunities to strengthen their relationship.
“The fact that our headquarters are here in New Haven gives us a geographic synergy with Yale,” he said. “There’s some wonderful research happening at the University. There’s a strategic alignment of people and innovation to be centered here in the city.”
In addition to its main office and laboratories in New Haven, Optherion also has facilities on the University of Iowa campus.