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Janis Dodge started finding the brown-red spots on her skin about eight years ago. They sprouted all over her body, in various sizes, and were enough to keep her away from the beach on a trip to Hawaii.
“They’re not pretty, I’ll be honest,” she said. “People would look and say, ‘What’s wrong with her?’”
Dodge, 62, a bank executive in Salem, Mass., was later diagnosed with mastocytosis, a rare disorder caused by a buildup of immune cells called mast cells in the skin, bone marrow, and organs. Chemotherapy treatments last year erased most of the spots, and now she takes a daily Zyrtec to minimize symptoms.
After that ordeal, Dodge said, “I’d love to see them help others with symptoms … Anything I can do to help.” That’s why she was among the first to enroll in a new registry for mastocytosis patients that aims to improve research on a poorly understood disease.
Many such registries have been created by advocacy groups, government agencies, or companies over the years, but they are “becoming a very common step for companies developing therapeutics,” said Vanessa Rangel Miller, vice president of genetic services at PatientCrossroads, a registry management company. And increasingly these registries rely not on medical charts but on patients’ own reports to get a better sense of how their diseases and treatments affect them day to day.
The databases track patients for years to see how a disease advances or how a treatment works in the real world, outside the strict confines of a clinical trial. For companies, they also provide an understanding of the potential demand for a new therapy before it even goes to market.
The mastocytosis registry, Mast Cell Connect, was launched this month by Cambridge, Mass.-based company Blueprint Medicines and is being managed by PatientCrossroads. Blueprint is in the early stages of a Phase I trial of a mastocytosis drug, and the registry will give the company a head start to identify and recruit patients for its trials. Lining up patients early means “development can happen rapidly,” said Philina Lee, Blueprint’s senior director of new product strategy and development.
“We are faced with this challenge of developing a drug for an extremely rare condition,” Lee said.
Companies tend to start registries only when one doesn’t already exist. In 2012, for example, Lotus Tissue Repair, another Cambridge company that was later acquired by Shire, sponsored the first registry for patients with epidermolysis bullosa.
Other registries have been around for decades. The Cystic Fibrosis Foundation’s Patient Registry, for example, has been accumulating disease information for almost 50 years, and Genzyme started several for rare disorders, including Fabry disease and Gaucher disease, dating back to the early 1990s.
But whereas registries have historically been populated with data supplied by clinicians, the outreach now tends to focus on patients, asking them about their lifestyle, their medication regimens, and what worsens their condition. Clinicians don’t have to take the time to fill out surveys, and patients can update their information on their smartphone without needing to go to a doctor.
“They’re the ones with the disease,” said Kyle Brown, CEO of PatientCrossroads. “Why not listen to them?”
Blueprint’s new registry accepts anyone diagnosed with mastocytosis, not just those treated at top medical centers. The company plans to corroborate the information from patients with medical records, but people who have studied registries say inaccurate responses from patients have not proven to be a problem.
And patients themselves can have more information than what’s in one medical record. The federal Agency for Healthcare Research and Quality, for example, funded a registry of more than 25,000 people who have had hip or knee replacement surgeries. These patients often have the operation at a major medical center but then rely on other doctors for follow-ups, meaning outcomes can only be tracked by following up with the participants, said Elise Berliner, director of the agency’s Technology Assessment Program.
“The really beautiful thing about it is it’s totally based on patient input,” Berliner said.
The agency in 2007 published a book on best practices for forming a registry and has continued to update it as the number of registries has, in Berliner’s words, “exploded.” The agency is now trying to figure out just how many patient registries are out there in a project with a name sure to set a bureaucrat’s heart aflutter: the Registry of Patient Registries. So far, more than 1,800 have been identified.
Kim McCleary, managing director of the advocacy group FasterCures, said “the science of patient input” has gained traction in recent years. The Food and Drug Administration, for example, has pushed to include more patient perspective in the drug development and approval process, she said.
To publicize Mast Cell Connect, Blueprint worked with the advocacy group the Mastocytosis Society. Other strategies include social media, outreach to doctors — even slipping a link to the registry on the disease’s Wikipedia page, Brown said.
Blueprint’s goal was getting 50 people enrolled after one year, with an outside hope of hitting 100. But as of Tuesday, two weeks after the registry launched, 90 people had signed up online. The registry’s information, which is anonymized, will eventually be shared with other researchers and drug developers.
For patients like Dodge, participating in the registry represents an easy way to contribute to efforts to treat mastocytosis.
“Anybody who’s focused on something you have and is willing to help — why not?” she said.