Curing blindness is, in part, a data-crunching problem. Hundreds of genetic mutations, and ensembles of mutations, can cause vision loss. Sorting out cause and effect requires digging through patient data to find patterns and finding the right people for potential treatments, such as replacing defective genes or regrowing lost tissue with stem cells. An online patient registry, MyRetinaTracker.org, crowdsources this data collection by recruiting the people who know the most about blindness–the people who suffer from it.
So far, only a few ailments that affect vision can be fixed. Doctors can transplant corneas (the outer lens of the eye), and even replace the lens inside the eye with a synthetic version. What they can’t yet fix is the retina–a layer of cells less than half a millimeter thick in the back of the eye that turns light into signals in the brain that become images.
Most challenging are about 20 rare inherited genetic diseases such as retinitis pigmentosa (RP), which starts by killing cells at the periphery of the retina and works its way inward. Any of at least 84 genes can cause RP (more keep being discovered). Just one gene seems to cause most cases of Stargardt’s disease, which usually starts attacking the center of the retina and works its way outward. But it’s a monster gene, containing 6,819 base pairs that code for proteins. Mutations on different parts of that gene affect the severity of Stargardt’s and can even cause other diseases, including RP.
“It comes down to which particular gene you have and which particular mutation on which gene you have,” said Brian Mansfield, deputy chief research officer at the Foundation Fighting Blindness (FFB) in Baltimore.
Opposite the plethora of causes is the paucity of patients. About 200,000 Americans have a rare inherited retinal disease, out of the more than 300 million people who live in the U.S.
Mansfield is taking on the challenge of finding them with My Retina Tracker, an online registry for patients with retina diseases to store their medial records and provide anonymous data to researchers. FFB soft-launched My Retina Tracker in June 2014, with no press coverage beyond a few niche websites. Yet it still gained more than 2,600 enrollees in the past year.
FFB is now finalizing a deal with a marketing agency–which Mansfield wasn’t authorized to name–for a major recruitment campaign that he expects to launch in the fall. FFB doesn’t need data from all 200,000 people in the U.S. to better understand connections between gene mutations and diseases. “If we were able to get 40,000 to 80,000 in our registry, we would be feeling good,” Mansfield said. The site is open to anyone in the world (although it’s only in English at present). Still, getting that many people involved is a daunting task.
My Retina Tracker hooks patients in with a few incentives. The simple one is a free place to keep all their medical records–including input from doctors–that they can access anywhere. That’s the only benefit that FFB is allowed to mention under federal guidelines for human medical trials.
The big, though long-shot, incentive is that by uploading their medical records and answering questionnaires, patients may get the attention of researchers who may be doing clinical trials for treating their disease. The more data patients enter, the more interesting they are to researchers. That includes getting their relatives to enroll. “Having other genetically related family members, even if they don’t have the disease, can be helpful in understanding what gene mutation might be causing the disease,” said Ben Shaberman, director of science communications at FFB at its annual Visions conference in Baltimore last month.
My Retina Tracker also takes in subjective information from patients about how the disease affects everyday activities like reading. Patients can potentially add a lot more detail, at their leisure, than a harried specialist can write down during an exam.
Doctors can enter information from appointments, too. By encouraging participants to keep updating their files, My Retina Tracker changes from a static snapshot of a disease to a longitudinal study that shows how the disease progresses over time.
How practical is a web tool for people losing their vision? Many people who are legally blind (with 20/200 vision or worse, vision that can’t be corrected) can still use computers and smartphones, sometimes touching their nose to the screen to see. Others use screen-reading software that converts text to speech.
To build My Retina Tracker, FFB contracted with PatientCrossroads, which has developed patient registries for other conditions and organizations. But the project took about nine months longer than expected, Mansfield estimates, because the site had to be coded to work with screen-reading programs such as JAWS and Window-Eyes.
My Retina Tracker is not the first patient database for eye diseases. “There are a lot of investigators and research institutions that do maintain registries,” said Ben Shaberman. “But those are maintained within the institutions, and they don’t [necessarily] make their information . . . available to other research communities.”
My Retina Tracker is quite open in comparison. Researchers have to apply for access to the anonymized data, but FFB has set a low barrier to entry. “We make sure that they have a reason to look at it, that they are not trying to hack it,” said Mansfield. Researchers can already do complex boolean queries combining both multiple data fields, such as disease type, age, gender, ethnicity, and location (down to the state level) and answers to any of the dozens of questions My Retina Tracker asks participants. Researches can then look through individual patient files, although the names are removed and replaced with ID numbers.
Researchers working on legitimate studies who find specific patients they’d like to recruit for a trial give the ID numbers to Mansfield, one of only two people who can connect a number with a name. (The registry coordinator is the other.)
He then contacts the patient–or constituent, as he calls them–and leaves it up to them if they want to get in touch with the researcher. “It always leaves decisions in the constituent’s hands,” said Mansfield.
That’s a strength, but also a weakness, of the program. My Retina Tracker can achieve a lot, with tens of thousands of people contributing data. But they have to want to take part.