Using Social Networks To Spur Research for Rare Diseases; Mayo Clinic Signs On

When Katherine Leon began feeling crushing chest pain six weeks after the birth of her second child, doctors were perplexed about what was causing her symptoms.

Ms. Leon was then 38 years old and healthy, and doctors didn’t believe she was having a heart attack. She saw her physician and made two visits to the emergency room. Finally, doctors decided to perform an X-ray angiogram to check for arterial blockages. What they found was so serious, she was whisked to the operating room within 30 minutes for bypass surgery.

The diagnosis: Ms. Leon had spontaneous coronary artery dissection, or SCAD, a mysterious condition in which the internal layer of an artery separates from the outer wall, creating a fissure where blood clots can form and potentially block blood flow. SCAD is so rare that little research has been done into what causes it, who is at risk and what treatments are most effective. It mainly affects women and can be fatal.

Ms. Leon, now 46, survived her ordeal, but fears it may occur again, although data don’t exist to know whether certain people may be prone to the condition. Like many people with rare diseases, the Alexandria, Va., resident set out to connect via an online network with other SCAD survivors, one as far away as New Zealand. What distinguishes this group of patients, however, is that they succeeded in persuading researchers at a major medical center to launch a research program to learn more about SCAD.

Tuesday, results of a pilot study conducted by researchers at the Mayo Clinic are being published online by the journal Mayo Clinic Proceedings. The study, which involved 12 SCAD patients from the message board, found that it is feasible to collect data and medical records from patients with different doctors and from far-flung locales. The study is a precursor to a much larger trial the clinic launched two weeks ago involving as many as 400 SCAD patients and an equal number of their close relatives. That research aims to collect not only patients’ angiograms and other medical records but also DNA samples to look at the genetics of SCAD and patterns of the disease among study participants that might reveal clues about why it occurs and who is at risk.

HEARTBEATThe social network “is a catalyst and it allows us…to gather a critical mass of patients to learn more about this disease,” says Sharonne Hayes, a Mayo cardiologist who is leading the project.

Patients for similar clinical studies are generally recruited by researchers at a single institution. Larger, company-sponsored trials involve recruiting at multiple centers, though some companies are beginning to use patient websites to find participants. In the case of rare diseases, it can take years to enroll enough patients to learn anything of value or to test a potential treatment. Obscure problems like SCAD often don’t attract researchers’ attention, largely because they appear to affect so few patients.

In the past decade, thousands of patients have flocked to Internet chat rooms and message boards for support and advice on managing health problems. The SCAD effort is a rare case of patients using a network as a potent tool to lobby for more research, presenting scientists with a ready-made collection of subjects. In another such effort, researchers in April published a study in the journal Nature Biotechnology initiated by patients with Lou Gehrig’s disease. That study, involving nearly 600 patients, suggested the drug lithium failed to slow progression of symptoms, contrary to findings from an earlier small study.

Only a few thousand Americans are believed to suffer SCAD each year. As many as 50% of the cases are fatal before reaching hospital. Data are scarce, but small registries indicate about two-thirds of patients are women; about one-third of female patients have their episode during or shortly after pregnancy.

Many SCAD patients are active, healthy women for whom a heart problem seemed highly unlikely, according to patient stories posted on the WomenHeart site on Inspire.com. WomenHeart is an advocacy group for women with heart disease.

“I didn’t smoke. I didn’t eat fatty foods. I exercised. Why in the world would my body just fail?” says Ms. Leon, whose SCAD episode occurred in 2003. “I’ve been told so many times it was just bad luck or a fluke,” she says. “Nobody wants to hear they’re a fluke.”

To connect with other SCAD patients, Ms. Leon began posting on the WomenHeart website. She hatched the idea of using the patient group to push for a research project into the disease in the fall of 2009. Around the same time she met online Laura Haywood-Cory, of Durham, N.C., who had suffered her SCAD in March of that year. Together, the two women moved the project ahead.

Feeling that SCAD patients were hard to follow on a message board dealing more generally with heart disease, Ms. Haywood-Cory started a new thread to link them together. She headlined the post: “All the SCAD Ladies Put Your Hands Up!”—a take-off on the Beyoncé hit “All the Single Ladies.” The thread quickly began filling up with stories.

Some women had a SCAD episode around the time they were pregnant; for others, the circumstances were unexplained. Some were associated with migraine headaches, others with a menstrual period. Some were treated with bypass surgery, some with stents and some without any major intervention.

The next month, Ms. Leon and Ms. Haywood-Cory attended a workshop on women and heart disease at the Mayo Clinic, where they met Dr. Hayes. Armed with about 80 stories from the SCAD message board, Ms. Leon asked Dr. Hayes to consider a study, which she tentatively agreed to a couple of weeks later.

The SCAD message board was filled with enthusiasm. “It would be such a relief for all of us to have some real, current, relevant research done on SCAD, and so finally the possibility of some much-needed answers,” wrote Sharon Sutton, 43, of New Zealand.

Within a week of a final agreement to launch the 12-patient pilot study, 18 people had volunteered. Mayo found it was able to get all the information it needed, although some patients needed to prod their doctors and hospitals to forward it to the researchers.

Among questions Dr. Hayes hopes to address in the larger study: Is there a genetic mutation that puts patients at increased risk of SCAD, and is it associated with other conditions such as connective-tissue disorders. Another issue is whether some treatments make the condition worse. “Mucking around the artery with a catheter” can cause a small dissection to get worse, she says. And although men also suffer from the condition, SCAD could help explain why heart disease in women is different than that in men, she says.

Write to Ron Winslow at ron.winslow@wsj.com

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