Blueprint Medicines and PatientCrossroads Launch Registry for Mastocytosis Patients to Increase Understanding of Disease and Speed Therapeutic Development
"We are proud to support the creation of Mast Cell Connect, the first-ever open-model registry to capture the perspective of patients living with mastocytosis," said Jeffrey Albers, Chief Executive Officer of Blueprint Medicines. "This new resource will bring
Participation in Mast Cell Connect is voluntary and open to those diagnosed with mastocytosis, a rare disease in which immune cells known as mast cells abnormally build up in the skin, bone marrow and other parts of the body. The registry will include patients with all forms of the disease, including systemic mastocytosis, cutaneous mastocytosis and their subtypes. By participating in Mast Cell Connect, patients will be able to view de-identified perspectives from other patients living with the disease, and may consent to be notified of clinical trials and other research studies. Recruitment efforts for the registry will initially be focused in
"We have observed over the years how patient registries have made an impact on advancing clinical development for other rare diseases, like Duchenne Muscular Dystrophy and Friedreich's ataxia. These databases of detailed medical information have proven to be a valuable tool in better understanding such disease areas," said Valerie Slee, RN, BSN, Chair of the Board of Directors for
"PatientCrossroads was founded on the philosophy that making patient registries available to disease communities and sharing this data via an open model will facilitate a new level of cross-collaboration, and ultimately, the development of new therapies," said
In addition to launching Mast Cell Connect,
Mastocytosis is a rare disease in which immune cells known as mast cells abnormally build up in the skin, bone marrow and other parts of the body. In healthy people, mast cells produce mediators, like histamine, that help activate the immune system and appropriately direct disease-fighting blood cells. In mastocytosis, however, the abnormal build-up of mast cells leads to high levels of these mediators, and can cause symptoms that resemble allergies, including hives, flushing, shortness of breath and anaphylactic shock. The signs, symptoms and severity of mastocytosis vary widely, but in more severe cases, mast-cell accumulation in the organs results in organ function impairment and shortened life span.
In patients with mastocytosis, mast cells can accumulate in the skin (known as cutaneous mastocytosis) and in other tissues including bone, bone marrow, liver, spleen and the gastrointestinal tract (known as systemic mastocytosis, or SM).
In almost all patients with SM, a genetic mutation known as KIT D816V is believed to be the root cause of the disease. The genetic mutation is not hereditary, and it is highly unusual for SM to run in families. Today, most treatments for SM only provide symptom relief and do not treat the underlying cause. There is no cure for the disease.
Since 2005, PatientCrossroads has pioneered the use of patient registries to accelerate therapeutic development and empower patients. PatientCrossroads registry programs connect patients with researchers, advocates and industry organizations working to understand or treat specific diseases and conditions. Dedicated to openly accessible registry programs, PatientCrossroads has been recognized for its efficacy as the recipient of an
Cautionary Note Regarding Forward-Looking Statements
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended, including, without limitation, statements regarding the potential benefits of Mast Cell Connect to
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