Special magnifying lenses, computer software and other equipment help Larry Whewell function well - at least for now - at his office job in Jacksonville.
But he worries that his vision problems, caused by an inherited eye disorder, will continue to get worse.
That's why he was excited to enroll recently in a national research project to identify patients with specific hereditary eye diseases. The project, known as "eyeGENE," is designed to give scientists a ready pool of patients for gene therapy as those treatments are developed and tested.
Whewell, 56, said taking part in eyeGENE will make it easier for him to be identified as a candidate for future clinical trials, and give him access to cutting-edge treatments and preserve his already limited vision.
"I'm not expecting to get 20/20 vision," he said. "I hope that my vision improves somewhat."
Whewell, director of administrative and outreach services at the Jacksonville Area Center for Independent Living, has retinitis pigmentosa. It's a progressive, degenerative disease of the retina for which there is no cure.
The disease has reduced Whewell's peripheral vision and reduced the clarity of his central vision. The Jacksonville resident is considered legally blind and isn't able to drive.
Whewell got into eyeGENE through his doctor, Springfield ophthalmologist David Dodwell.
Dodwell operates the only enrollment site in Illinois outside of the Chicago area through his medical practice, Illinois Retina Center at 1230 Centre West Drive in Springfield.
"He has been telling me for several years that one of these years he's going to have something for me," Whewell said.
'A whole new field'
When Whewell learned about eyeGENE, "I couldn't believe it," he said.
EyeGENE, also known as the National Ophthalmic Disease Genotyping Network, is based in Bethesda, Md., and is part of the National Eye Institute at the National Institutes of Health.
It is funded with about $2 million a year from the federal government and began in 2006 to enroll patients. EyeGENE includes testing for 30 different inherited eye diseases, including various forms of retinitis pigmentosa, glaucoma, corneal dystrophy and cone-rod dystrophy.
Researchers are expected to begin using eyeGENE to recruit patients for clinical trials later this year, said Kerry Goetz, eyeGENE's program coordinator.
About 1,600 patients in the United States and Canada have been enrolled so far, with a goal of at least 2,600. Dodwell, who started enrolling patients in December, has helped about 15 sign up and hopes to enroll 100 more in the next few years.
Until now, scientists interested in clinical trials of gene therapy for eye diseases had to find patients on their own. By making patients' genetic makeup and DNA samples available through the eyeGENE database, the project makes the recruitment process more efficient and faster for scientists, Goetz said.
"I think they will look first to us," she said.
EyeGENE gives patients a single portal for entering their names and genetic profiles for future clinical trials, though there's no guarantee that enrolling in eyeGENE will land patients a spot in those trials, Goetz said. EyeGENE patients aren't required to participate in future clinical trials and can enter their data purely to assist researchers in learning more about inherited eye diseases.
Dodwell said he feels great satisfaction being able to offer eyeGENE enrollment to patients because many of them have few treatment options now.
"It makes you feel like you're finally doing something that you wish you always could do for the past 20 years," he said.
Dodwell called gene therapy the most "cutting-edge" treatment available for eye diseases, noting that researchers are looking at ways of tailoring cures to each patient's specific genetic profile.
"It used to be science fiction," he said. "Now it's science reality."
Gene therapy for eye diseases has been available only through clinical trials thus far. Gene therapy to treat specific eye diseases hasn't received Food and Drug Administration approval for widespread use - at least not yet.
But Dodwell said patients should be encouraged by what he called "breakthrough" reports of successful gene therapy for 12 patients in the United States and England for a severe form of retinitis pigmentosa known as Leber's Congenital Amaurosis.
The therapy for these patients, who are in a clinical trial and weren't enrolled in the trial through eyeGENE, involved injecting a drop of fluid underneath the retina. The fluid contained a missing gene in these patients' DNA makeup.
All of the patients could barely see light, but after the treatment, more than half experienced such an improvement in vision that they no longer were considered legally blind, Dodwell said.
He said the improvements in vision that these patients have experienced will lead to innovations in treating other eye diseases with gene therapy.
"This is going to start a whole new field," he said.
Hope for the future
Dodwell isn't charging patients for the services that he and his staff provide in enrolling eligible patients for eyeGENE. He is working with St. John's Hospital, which is covering the cost of drawing blood from prospective eyeGENE patients and sending their blood samples to the National Institutes of Health in suburban Washington, D.C.
The cost of genetic testing for enrolled patients is covered by eyeGENE.
Whewell, the Jacksonville office worker, is happy that he could get involved in eyeGENE without having to travel hours away. "We're so fortunate to have Dr. Dodwell and the staff at St. John's," Whewell said.
He knows that his involvement in eyeGENE may not get him into a clinical trial or lead to a new treatment for his disease in his lifetime.
"I'm optimistic but also realistic," he said. "I don't dwell on it. If nothing happens, then I'll keep on going, but I am optimistic about this. I just feel this is the time."
Dean Olsen can be reached at 788-1543.
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Photo: Justin L. Fowler/The State Journal-Register -- Larry Whewell, director of administrative and outreach services at the Jacksonville Area Center for Independent Living, has a degenerative disease of the retina for which there is no cure called retinitis pigmentosa. He uses a variety of computer software and digital magnifiers to help him function.
