Targeting the future of medicine

Our commitment to patients

At Blueprint Medicines, we work together in pursuit of one common goal: to dramatically improve the lives of people with genomically defined cancers and rare diseases.

We combine a deep understanding of the genetic blueprint of cancer and rare diseases with expertise in kinase biology to craft precision therapies specifically designed to target the underlying molecular basis of disease. With this approach, we aim to develop breakthrough medicines that allow patients to live longer, healthier lives.

“Though deep scientific knowledge forms the basis of our company, we go beyond intellectual curiosity to achieve a common goal: to allow patients with genomically defined cancers and rare diseases to live longer, healthier lives.”
Andy Boral, M.D., Ph.D., Chief Medical Officer

Blueprint Medicines Recognizes International FOP Awareness Day

In honor of International FOP Awareness Day, our Chief Scientific Officer Marion Dorsch shares a letter to the patient community highlighting our commitment to advance care and raise awareness for those affected by this rare genetic disease.

Today, Blueprint Medicines stands with the patient community and recognizes International Fibrodysplasia Ossificans Progressiva (FOP) Awareness Day. In doing so, we hope to draw attention to this rare genetic disease and the importance of advancing care for those affected.

Read more

Our precision therapy approach

Our goal is to rapidly and reproducibly design precision therapies that treat the underlying cause of genomically defined cancers and rare diseases. With this approach, we aim to deliver important new medicines to patients in need.


a genomic driver of disease

Design a highly selective therapy

to target the genomic driver

Conduct clinical trials in patients

harboring the genomic driver

Diseases we target

Gastrointestinal stromal tumor

  • Gastrointestinal stromal tumor, or GIST, accounts for the most common sarcoma of the gastrointestinal tract, or GI tract. Tumors arise within cells in the GI tract wall, most often the stomach or small intestine.
  • Most patients are diagnosed between ages 50-80, typically triggered by GI bleeding, incidental findings during surgery or imaging, or in rare cases, tumor rupture or GI obstruction. Symptoms include pain or discomfort in the abdomen, nausea, vomiting, anemia and fatigue. Patients diagnosed at an early stage may undergo surgery.
  • Although treatment options have improved in recent years for patients with metastatic disease, a meaningful percentage either do not respond to treatment or relapse afterwards, and for these patients there is a vital need for effective treatments.

Systemic mastocytosis

  • Systemic mastocytosis (SM) is characterized by the abnormal buildup of mast cells – immune cells that produce histamine and other mediators of the body’s inflammatory and allergic responses. In patients with SM, mast cells produce high levels of these mediators, causing symptoms that range from mild to life-threatening, including pain, nausea, hives, bleeding, fever and anaphylaxis.
  • There are several forms of SM including indolent SM and advanced SM. Many patients with indolent SM have a high symptom burden that severely impacts activities of daily living and quality of life. In advanced cases, including aggressive SM, SM with an associated hematologic neoplasm and mast cell leukemia, mast cells accumulate in organs such as the bone marrow, spleen and liver, often resulting in life-threatening organ dysfunction.
  • There are no approved treatments designed to selectively target KIT D816V, the primary disease driver in most patients with SM, and there is a clear need for new therapies.

RET-altered non-small cell lung cancer, medullary thyroid cancer and other solid tumors

  • RET is a protein kinase involved in important cell functions including organ development and tissue stability. Genetic alterations and mutations in RET have been shown to cause non-small cell lung cancer and medullary thyroid cancer, as well as other solid tumors including colon and breast cancers.
  • We aim to address a need for precision therapies that provide durable clinical benefit by selectively targeting RET alterations and resistance mutations.

Hepatocellular carcinoma

  • Liver cancer (mainly hepatocellular carcinoma, or HCC) is the second leading cause of cancer-related deaths worldwide and the fastest rising cause of cancer-related death in the United States.
  • The incidence of HCC has tripled over the last twenty years, while the five-year survival rate remains below 12%.
  • While patients diagnosed at an early stage can receive potentially curative liver transplants, surgery or ablation therapies, patients with advanced HCC face a poor prognosis; more treatment options are needed for these patients.
Our clinical trials

Our clinical trials

Clinical trials are an important part of helping to bring safe and effective medicines to patients. All drugs go through rigorous series of trials, and based on the results, regulatory agencies including the US Food and Drug Administration and European Medicines Agency decide whether to approve medicines.

By taking part in clinical trials, patients can make an important contribution to ongoing research and better understanding of a disease. For patients who lack effective treatments, clinical trials are also an opportunity to be a part of testing a new drug.

Learn more about participating in clinical trials
Explore our clinical trials

Patient community events

We host informational webinars for patients, caregivers and families in each of the above disease areas. Read on to find archived events of interest.

Informational Webinar on Avapritinib Clinical Trial Program in Indolent Systemic Mastocytosis

On Thursday, July 23, 2020, Blueprint Medicines hosted a webinar for the systemic mastocytosis (SM) patient and caregiver community on Part 1 of the PIONEER clinical study evaluating investigational medicine avapritinib and ongoing clinical trials.

Maria Roche, Senior Medical Director, Indolent Systemic Mastocytosis Program at Blueprint Medicines, shared an update from the recent data presented at the European Academy of Allergy and Clinical Immunology (EAACI) Digital Congress 2020, as well as information on current clinical studies in SM. A replay is available by clicking below:

Patients who are interested in ongoing studies can contact the Blueprint Medicines study director at to learn more about opportunities to participate.

Additional information about the PATHFINDER and PIONEER trials for people with advanced and non-advanced SM can be viewed at

U.S. Patient Support Program

Designed to assist eligible patients who are prescribed our approved medicines by offering access and affordability solutions

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For questions, call 1-888-BLUPRNT (1-888-258-7768)
Monday-Friday, 8 a.m. to 8 p.m. Eastern Time (ET)