HARTFORD — In the 1950s, children with cystic fibrosis usually died before they reached kindergarten age, their airways choked with mucus by a genetic disorder that disrupts their ability to clear infections from their lungs.
Today, many people with the disorder are living well into their 30s and beyond, and children like Caroline Castonguay, a preteen patient at the Central Connecticut Cystic Fibrosis Center here, can do all the things their classmates do — ski, ice-skate, play soccer, get top grades in school.
These patients owe their lives, at least in part, to a carefully updated nationwide collection of personal profiles called a patient registry.
The Cystic Fibrosis Foundation, in Bethesda, Md., manages the electronic registry, which tracks treatments, results and health status on patients from more than 100 centers around the country. Researchers say that by identifying the most effective treatments for each patient, it has played a crucial part in doubling the average life expectancy of the estimated 30,000 cystic fibrosis patients in the United States.
Now the idea is being widely copied. Advocates for patients with an array of intractable diseases like Parkinson’s, lupus and juvenile diabetes are among the latest to begin developing registries, and the National Institutes of Health is promoting a linked network of registries for rare diseases with fewer than 200,000 patients.
“Registries are invaluable in the improvement of care, especially for people with chronic diseases,” said Dr. Donald Berwick, a professor of health care policy at Harvard who heads the Institute for Healthcare Improvement, a nonprofit consulting firm.
Caroline and her mother, Susan Castonguay, came here recently to report on her progress for her support team — physician, nurse, social worker, nutritionist and the center’s clinical research coordinator. She scored 100 percent on a breathing test, the most important indicator of patients’ health. The team noted the latest effects of her medicines and her daily physical therapy and, not least, her recent growth spurt: just above five feet and 94 pounds (the team urged her to gain 2 more).
The results were promptly added to Caroline’s file and fed into the national registry. The local center tracks 100 children at the Connecticut Children’s Medical Center and 55 adults at Hartford Hospital, including a few patients in their 50s.
The Cystic Fibrosis Foundation analyzes all the data and shares its findings, helping doctors, researchers, patients and their families seek out patterns and clues for DNA solutions, new drugs and physical therapy.
Although children still die from cystic fibrosis, none have died at the center in Hartford since 1998, said Dr. Craig D. Lapin, a pulmonary specialist at Connecticut Children’s who directs the center. Caroline has visited the center every two months since she was born.
Cystic fibrosis patients inherit mutated genes that disrupt body functions. If the disease is not aggressively treated with oral and inhaled drugs and other therapies, thickened mucus eventually clogs a patient’s airways. Treatments like the ones that keep Caroline fit ease symptoms and slow the progression of the disease. But there is no known cure.
“Until there is a cure and we can stop the program,” Dr. Lapin said, “the registry is a massively important tool.”
Besides helping keep Caroline’s disease in check, her profile in the registry has identified her as eligible to volunteer to take part in a new, potentially groundbreaking study.
Ginny Drapeau, the research coordinator, briefed Caroline on a safety and effectiveness trial of an experimental drug, VX-770. Researchers hope it will directly combat the most common mutations of a protein that malfunctions in cystic fibrosis patients.
Using the cystic fibrosis registry as a model, the National Parkinson Foundation has just started its own registry. It plans to enroll thousands of patients, said Joyce Oberdorf, the foundation’s president. “There are nearly one million Americans with Parkinson’s disease,” she said, “and they have multiple symptoms that can combine in multiple different ways.”
Preliminary data in the new registry showed that patterns of treatment were not consistent and that patients had far more additional diseases and cognitive issues than expected, the foundation said at the World Federation of Neurology meeting last week.
At the National Institutes of Health, the Office of Rare Diseases Research is bringing together managers of registries next month to plan connecting links and other support for a federation of Internet-based patient registries and other data repositories.
The joint effort is intended to reduce the costs of running a registry for many of the 1,000 groups in the United States that represent people with specific diseases. Many smaller groups cannot afford the expense, said Stephen C. Groft, who heads the rare diseases unit at the institutes.
And Robert J. Beall, a former N.I.H. scientist and longtime president of the Cystic Fibrosis Foundation, noted that registries were “incredibly important” in recruiting participants for research on diseases that affected relatively few patients. Registries are also important as the Food and Drug Administration orders manufacturers to sponsor research after approval on drugs that patients may take for a lifetime, Mr. Beall added. With information on large numbers of patients, he said, “you can look for adverse events and hopefully find indicators for clinical improvement.”
Professional societies and support groups like the American Heart Association, the American College of Cardiology, the Society of Thoracic Surgeons, the American College of Surgeons and the American Society of Clinical Oncology also sponsor registries.
Registries are credited with helping to reduce death rates in recurring heart attacks 30 percent to 40 percent, said Dr. Gregg C. Fonarow, a professor of cardiovascular medicine at the University of California, Los Angeles.
Dr. Elise Berliner of the federal Agency for Healthcare Research and Quality, said new drugs and other treatments were often approved without enough testing of elderly patients who might become big users. “In the real world, patient outcomes are sometimes not as good as they were in the pre-approval trials,” Dr. Berliner said.
Kaiser Permanente, the giant California hospital and insurance organization, operates dozens of registries. “Without a registry, you are kind of flying blind,” said Dr. Philip R. Madvig, associate executive director of the Kaiser Permanente Medical Group.
Dr. Madvig said that after close monitoring, the annual death rate for 18,000 patients in his H.I.V./AIDS registry had been reduced to half the national average.
Record-keeping from medical registries will be “even more important under health care reform, as payments for care are linked to what works,” said Dr. Richard Gliklich, a surgeon who is chief executive of Outcome Sciences, a privately held company started by Harvard researchers.
Tony DiMaio, 47, has lived through much of the modern history of cystic fibrosis treatments. He was given a diagnosis of the disease when he was 5, before genetic testing and before the development of a half dozen specialized drugs he now takes.
“Back in the day, when we got sick, they gave us common antibiotics and Robitussin for coughs,” Mr. DiMaio said. “As a child, they had us sleeping in ‘croup tents,’ ” filled with steam, “until a study showed that this actually was contributing to lung infections.”
Mr. DiMaio, who lives in Woodbury, Conn., has a doctorate in chemistry and holds 10 patents. He has had chemical industry jobs for 20 years, including years with a specialty chemicals maker that sells to plastics manufacturers.
On a business trip to Mexico a few months ago, Mr. DiMaio spent six days recovering from flu in a hospital. “For me to go into hospital in the middle of a business trip, it’s got to be bad,” he said. “At the Mexican hospital, they had never seen an adult C.F. patient before.”
He mentors younger children with the disease, telling them how important it is for them to follow treatment routines rigorously. His own younger brother, who had a more severe type of cystic fibrosis, died as a teenager. “It was tough to understand why him and not me,” he said.
Mr. DiMaio takes a look at summaries of the registry reports when he visits the adult unit of the cystic fibrosis center in Hartford, where he is on an advisory board.
“Every patient with C.F. is so different,” he said. “I don’t have the same digestive problems as some patients, who have to take enzymes or use feeding tubes.”
But Mr. DiMaio does have cystic-fibrosis-related diabetes, a potentially serious problem for many patients. “The pancreas was affected, and other organs have also suffered, too,” he said. “The registry is a way to make sense of all the data coming in.”