New Initiative Aims to Gain Greater Understanding of Mastocytosis

Many people may not know about mastocytosis, but thanks to a new online initiative, patients and researchers are gaining a better understanding of the disorder.

Mastocytosis is a rare disorder caused by an abnormal buildup of mast cells (a type of immune cells) in bone marrow, skin and other organs of the body. Systemic mastocytosis (SM) — a subset of the disease in which mast cells build up in multiple organs as well as the bone marrow — affects about 8,000 individuals in the U.S.

An initiative called Mast Cell Connect takes aim at gleaning a better understanding of the patient experience and accelerating clinical trials of mastocytosis.

“It is, at the end of the day, a rare [hematologic] disorder and frankly, the awareness of the disease is very low,” said Philina Lee. “There's a pretty complex diagnostic workup that's needed and in part, as a result of that, patients often go many years before they receive an accurate diagnosis.”

Can you tell me about Mast Cell Connect?

To learn more about this project, which launched in December 2015, CURE interviewed Lee, who is the senior director of New Product Strategy and Development at Blueprint Medicines. The following is edited for brevity and clarity.Mast Cell Connect is a new kind of patient registry for people with mastocytosis. In contrast to traditional registries in which physicians or health care providers are entering information, here, the patients themselves are participating and providing feedback about their disease — it's insight directly from the patient.

Because of its design through an online portal, patients all over the world can sign up and participate. They don't have to be limited to specific clinical sites. This has enabled much broader participation, which we've seen in our unexpectedly high recruitment rates. Today, we’re over seven months in and we have about 195 participants signed up. When we launched, we set an internal goal much lower than that for the end of the first year. It's really exceeded our expectations and it illustrates how eager the mastocytosis community is to participate in research.

Is this technically a clinical trial?

A third element that's new about this approach is that Mast Cell Connect was built through an open model. By open, it means that others — researchers, drug developers, patient advocacy groups — can gain access to the data and participants can also see how their individual results compare with the broader community of patients. We think that's a big advantage for participants.I'm not sure I'd call it a trial and we've even struggled with the use of the word “registry” because it means a lot of things to different people. This is an initiative that enables us to gather insights directly from patients. Our listing on clinicaltrials.gov reflects that this project does have a protocol and it's approved by an institutional review board.

What are the goals of Mast Cell Connect?

What are the financial goals of this project — either directly or indirectly?

What have you heard from individuals who are involved with this?

First and foremost, it's to understand the experience and burden of the disease directly from the patient's perspective. Secondly, we want to accelerate clinical trials for mastocytosis. People who sign up can express interest in hearing about clinical trials that may be relevant for their subtype.The value to us is gathering patient insights that will inform our clinical programs and decisions that we make. Also, if we can understand the treatment algorithm that's happening with patients today, it can inform how we position our investigational therapy. We also gather information about health care utilization and doctor visits, which could help to inform a health economics and research assessment in the long term. In the near term, this initiative helps us identify patients who may be interested in participating in our study.We don't have much of a direct dialogue once they've signed up, though we do receive a lot of questions and interest when they're first evaluating whether or not to participate.

How can individuals get involved?

One of the first people to sign up told us that she was excited to make a difference for patients with mastocytosis and to help to advance research.We would love for more patients to take part in this initiative and sign up at MastCellConnect.org. With 195 participants, I think we're just seeing the tip of the iceberg. We also want to continue to build on the types of questions that we're asking so we have a valuable longitudinal data set that tells us not only what's happening at that first snapshot, but also how the disease and symptoms are changing.