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.
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 (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 (MTC), as well as other solid tumors including colon and breast cancers.
- Currently, no approved therapies selectively target RET-driven cancers. There is a need for precision therapies that provide durable clinical benefit by selectively targeting RET alterations and resistance mutations.
- 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.
Fibrodysplasia ossificans progressiva
- Fibrodysplasia ossificans progressiva (FOP) is a rare, severely disabling and ultimately life-shortening genetic disease characterized by episodic soft tissue edema (flares) and the progressive replacement of skeletal muscle, ligaments and connective tissue by heterotopic bone.
- Most cases result from new mutations in the ACVR1 gene, whereas a small number of people inherit a mutation. There are no approved treatments to slow or stop the progression of FOP.
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.
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 GIST
On Tuesday, August 20, 2019, Blueprint Medicines hosted a webinar for the GIST patient and caregiver community about avapritinib, an investigational medicine for people with advanced GIST.
Maria Roche, Senior Medical Director, Clinical Development at Blueprint Medicines, shared an update on recent data presented at the 2019 American Society of Clinical Oncology, as well as information on current and planned clinical studies in GIST. A replay is available by clicking below:
Patients who are interested in ongoing studies can contact the Blueprint Medicines study director at studydirector@
Additional information about the VOYAGER trial for people with advanced GIST is available at https://www.