By Tony Fong
NEW YORK (GenomeWeb News) – Just having embarked on its US sales strategy, Canadian molecular diagnostics firm ArcticDx is targeting a mid-2011 submission to the US Food and Drug Administration for approval of its age-related macular degeneration prognostic test.
The test, called Macula Risk, launched in Canada in 2007 was officially launched in the US two months ago. ArcticDx is now starting clinical trials for Macula Risk in preparation of a pre-IDE submission to the FDA, and last week, the Toronto-based firm announced an investment from the Ontario Genomics Institute, which will be used in support of its filing.
The Macula Risk test is based on a panel of genetic markers licensed from seven universities and medical research institutions in the US and Europe that have demonstrated the abiltiy to predict which patients with AMD will progress to significant vision loss.
Macular degeneration occurs when complement proteins called drusen build up in the tissue layer underneath the eye or on the optic nerve head. The Caucasian population is most susceptible to AMD, and according to Greg Hines, the CEO of ArcticDx, about half of all Caucasians starts accumulating drusen in their eyes by the time they reach their 50s. Of that percentage, 20 percent will progress to vision loss, while 80 percent remains relatively unaffected.
"The challenge that eye care professionals have always had with this disease is that they don't know who's in the 20 percent that will go blind and who's in the 80 percent that won't," Hines told GenomeWeb Daily News this week.
By being able to predict this, the hope is the disease can be better managed and blindness prevented in some cases.
ArcticDx has licensed about a dozen genetic biomarkers — SNPs, insertions/deletions, and other genetic variations — that appear to be predictive of whom will go blind from AMD, and the firm has validated them for its Macula Risk test. Those mutations and variations occur in about 20 percent of the general population, correlating to the percentage of people with AMD who tend to progress to blindness, Hines said.
The current version of ArcticDx's test contains eight markers, though work is under way to develop a 12-marker version that incorporates new genetic AMD markers discovered during the past year.
Hines could not provide a definitive figure on the accuracy of Macula Risk, but said that the test includes five markers that had been studied by Johanna Seddon, a professor of ophthalmology at the Tufts Sackler School of Graduate Biomedical Studies. In research she conducted on the five markers, she was able to predict which patients with AMD would go blind with 83 percent accuracy.
ArcticDx first launched Macula Risk in Canada two years ago, then began making it available in the US in early 2009 through about 10 retina specialists who have served as beta sights. During the next year and a half, the company worked out issues such as testing logistics, sampling techniques and methodologies, and reimbursements with CMS and private insurers, and on Sept. 14, ArcticDx began its official US launch of a laboratory-developed test, partnering with 3D Eye Solutions.
It also licensed the laboratory rights to the test to Advanced Diagnostics Laboratories at National Jewish Health. Hines declined to disclose any revenue figures for the test, which comprise all of ArcticDx's revenues, but said that in the first month of its US launch about 300 eye care professionals had ordered Macula Risk.
Getting FDA on Board
ArcticDx now plans to conduct two clinical trials in preparation of an FDA submission for the test. The trials will be conducted at Tufts Medical Center with Seddon as the principal investigator. About 2,200 samples from the Age-Related Eye Disease Study, or AREDS, will be used in the trials. AREDS is a six-year study that was sponsored by the National Eye Institute into macular degeneration and cataracts.
Another 600 samples from patients Seddon has studied in her own research are also included in the trials.
In the clinical trials, the DNA of all of the samples will be interrogated to determine their prognostic powers. Hines said that he expects a submission to the FDA for Macula Risk in the first half of 2011.
Though ArcticDx plans on 12 markers for its second-generation Macula Risk test, the final number will be decided based on the results from the clinical trials.
The company does not plan to sell the test as a direct-to-consumer product, Hines said, and is seeking FDA approval in anticipation of greater oversight over LDTs by the agency. Since the summer, amid concerns that some companies were selling genetic tests directly to the public as LDTs, FDA has been drafting its strategy on how best to regulate such tests and their manufacturers.
Against such a backdrop, Hines said, "We plan on building a significant business in macular degeneration, and we think that it's in our best interest to make sure that we have a test that meets the regulatory requirements at all times."
Passing FDA muster would also open new opportunities by providing "the data and the immediate ability to get an improved test in all markets around the world," he said, adding that he expects Macula Risk to get a CE Mark in Europe toward the middle of 2011.
While macular degeneration is one indication included by some direct-to-consumer genetic test firms as part of their general, broad-based gene panels, and a handful of medical institutions and laboratories offer diagnostic genetic tests for AMD, few reliable tests exist for predicting how the disease will progress. One company looking to enter that space is Sequenom.
In mid-2011, it plans to launch its LDT prognostic test, comprised of genetic markers licensed from Optherion. The test will run on Sequenom's MassArray platform.
Because the company is fine-tuning the test, Sequenom officials declined to say how many markers will comprise its test or whether the company will pursue FDA approval for it.
In the US, about 20 million people have some form of AMD, said Ian Clements, senior director of investor relations for Sequenom. "I think that in a market that size there is an ability of a number of players to play in the marketplace," he told GWDN.
In addition to Macula Risk, ArcticDx, which was founded in 2005, is developing a test for colorectal cancer called Colo Risk, and had targeted a colorectal cancer test as its first commercial launch. The company got its name from the Arctic Project, a Canadian-backed international genotyping initiative to identify markers for colorectal cancer.
Markers from that project were the first set of IP acquired by ArcticDx.
The firm is running a clinical validation study for the test and Colo Risk is about a year from commercialization, Hines said.
It's a long stretch, phenotypically speaking, from colorectal cancer to AMD, but Hines said that the company's business model doesn't depend on disease types or their relationships to each other. ArcticDx is not a research-oriented company set on discovering the biomarkers themselves, Hines said, but instead, it plans to license the rights to biomarkers, validate them, develop tests using them, and then bring them to market.
Though commercializing Macula Risk and Colo Risk are ArcticDx's main priorities, it remains on the lookout for markers in other diseases, said Hines.
Hines is the former president and CEO of TM Biosciences, which was acquired in 2007 by Luminex, and founded ArcticDx with Brent Zanke, formerly the provincial head of systemic therapy for Cancer Care Ontario and a principal investigator on the Arctic Project. He is now the chairman and chief medical officer at ArcticDx.
The firm currently has six employees. Aside from OGI, other investors in the firm have included individual ophthalmologists and the Ontario Institute for Cancer Research. Hines declined to disclose terms of the OGI investment or say how much the firm has raised in total.
The company has not had any institutional investors, Hines said, but may be reaching out to that community as it seeks to raise $5 million to fund sales and marketing of Macula Risk.