Every disease has a story, including its natural history, clinical presentation, signs and symptoms, and effect on a person’s quality of life. While these factors are often well-understood for common diseases, in the case of rare diseases with smaller patient populations, the story may be unclear and, for many, often remains untold. Systemic mastocytosis (SM), which affects only about 32,000 people in the United States1 and is characterized by assorted symptoms affecting numerous body systems, is no exception.
A team within Blueprint Medicine’s global Medical Affairs organization, Health Economics and Outcomes Research (HEOR), is using ‘real-world’ evidence from numerous sources to help build a clearer story of the experience of living with SM. The goal is to help providers identify and diagnose patients with SM in a timely manner, as well as diminish the likelihood of patients suffering in isolation with a life-limiting, debilitating condition that their families, friends, and doctors do not understand.
Blueprint is committed to studying and shedding light on the severity and unpredictability of SM symptoms for patients, including the impacts on their ability to care for and spend time with their families, socialize with friends, leave their homes, and maintain a job.
“In the case of a disease like SM, patients may present to a number of different types of specialists. One of our key goals over the last several years has been to generate evidence that can help providers recognize patients with SM symptoms,” says Teresa Green, Senior Director of Global HEOR at Blueprint Medicines. “Each of the different specialties that may be seen by an SM patient is addressing one single specific symptom, but each symptom actually fits into this larger constellation of SM. A dermatologist might only be considering and treating the skin symptoms (rashes, itching), while a gastroenterologist is more focused on GI symptoms (diarrhea, nausea). It’s like that parable of the blind men all touching one part of the elephant. They don’t realize that what they’re seeing is part of this much larger and much more nuanced whole.”
The first step, according to Green, was to go to patients and ask them directly about their signs and symptoms and the impact of SM on their daily lives. Results from this patient research – Blueprint’s TouchStone SM Patient Survey – provided moving evidence about the severity of SM symptoms and their debilitating effects on patient’s daily lives. It also showed that on average, patients surveyed did not receive an SM diagnosis for almost 6 years following the start of symptoms.2 As a next step, Green says that the team conducted several retrospective studies using data from de-identified electronic health records of patients who were diagnosed with SM to look for symptom combinations and patterns that – if they had been identified earlier by physicians – might have led toa quicker SM diagnosis. The wide range of symptoms presented by patients, particularly those who presented through oncology, surprised our team.
“These patients could come through a number of different spaces initially, so I assumed we might see a narrower set of symptoms being described,” Green said. “But we saw a wide variety of signs and symptoms, and patients who presented with a lot of them. So, a high disease burden and very diverse symptoms. That led us to re-evaluate an assumption about how a certain type of patient would present in the oncology setting. With this research, we believe that community oncology settings might be uniquely positioned to discover patients, get them diagnosed and provide a more timely accurate diagnosis, which would benefit patients.”
In collaboration with research partners, the team is using findings from these retrospective studies to build a tool that could interface directly with electronic health records, use a point system for various symptom combinations and flag patients with a higher likelihood of SM who might benefit from an additional clinical workup. Green says these types of tools may help physicians who are unfamiliar with SM know when to consider ordering tests that could rule out or confirm the disease.
In collaboration with several functions across Blueprint, further work in the U.S. and Europe is ongoing to fully understand the natural history of the disease, the substantial disease burden on patients and the existing unmet needs for those living with SM. Green notes that disease burden doesn’t just mean symptomology. What the team has learned from these retrospective studies, surveys and conversations with patients is that uncontrolled SM symptoms have a substantial negative impact on every aspect of their lives, from daily activities to being able to work.
“What we also hear from patients is those who have severe disease, and especially those who may experience frequent anaphylaxis or severe allergic reactions, is that they learn how to manage their symptoms and keep the disease under some control but at the expense of living their normal lives,” she said. “So, they might not be experiencing severe symptoms, but they stay home all the time; no one can come in. These restrictive modifications to their lifestyle are often a huge burden for them, for caregivers and for their family.”
Green believes that Blueprint’s commitment to understanding full story of SM is unique. “We’ve accomplished so much in the last several years,” she said. “Thanks to the innovative application of real-world evidence, we understand more today about the ‘story’ for people living with SM and how to best help patients and improve the quality of care they receive.”
1Data on file. Blueprint Medicines Corporation, Cambridge, MA 2022.
2Mesa, R.A, et al. (2022), Patient-reported outcomes among patients with systemic mastocytosis in routine clinical practice: Results of the TouchStone SM Patient Survey. Cancer, 128: 3691-3699. https://doi.org/10.1002/cncr.34420
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