A rare opportunity

Importance of continuous collaboration with rare disease communities

At Blueprint Medicines, we aim to make a significant difference in patients’ lives by solving critical medical problems.

Since the company’s inception, we have focused on addressing the burden faced by people impacted by systemic mastocytosis (SM), a rare haematologic disorder.

SM is caused by the abnormal accumulation of mast cells, a key part of the body’s immune system, leading to potentially debilitating symptoms such as skin lesions, diarrhoea, bone pain, fatigue and anaphylaxis. This burden of disease can have a profound impact on patients’ quality of life.

To address these medical needs, we aspire to be the partner of choice in SM. For the biopharmaceutical industry at large, I believe early and continuous collaboration with patient and clinical communities is vital to advance medical care, particularly for rare diseases like SM.

Understanding disease impact and burden

For many rare conditions, there is limited understanding of the real-world impacts faced by patients and their families.

To address this challenge, we worked with clinical experts and patient advocacy groups to conduct the Perceptions Reality and Insights on Systemic Mastocytosis (PRISM) study, which has underscored the substantial burden of SM.

For example, 65% of healthcare providers reported patients’ lives were affected ‘quite a bit’ or ‘a great deal’, and 58% reported patients lost employment opportunities.1
These results highlight the urgency to diagnose patients and advance treatment beyond traditional therapeutic options.

Accelerating time to diagnosis

Prior to receiving a diagnosis, patients with rare diseases often see many different specialists over multiple years.

The PRISM study indicated that patients with SM visited an average of 3.8 healthcare providers before the disease was detected, and in 19% of cases, a diagnosis took more than five years.²

Working with experts in this disease area, we aim to characterise which patient populations are at increased risk of SM.

Recently, our PROSPECTOR study found that patients who met pre-specified criteria were about 400 times more likely to have the KIT D816V mutation – the primary driver of SM and other clonal mast cell diseases – relative to the general population.³
Ultimately, we want to raise awareness among clinicians so they can help patients get answers faster and support them better.

Evaluating treatment response

For rare diseases, companies often need to pioneer development paths and registrational endpoints without well-established precedents.

Early on, Blueprint surveyed clinicians and patients to determine which symptoms were meaningful to measure, which informed the design of disease-specific, patient-reported outcomes (PRO) tools.

Symptom data generated from one of our PRO tools served as the primary basis for multiple regulatory approvals globally.

Changing patients’ lives

Like many others, I work in the biopharmaceutical industry to bring life-changing medicines to patients in need.

To enhance our impact, it is critical to facilitate meaningful long-term partnerships across key stakeholders, including clinical experts, advocacy groups, and patients and their families.

For more than a decade, Blueprint has been closely collaborating with the SM community to ensure their voices are heard, with the goal of improving the scientific understanding, diagnosis and treatment of this disease.

We can go further when we work together, creating a brighter future for patients with SM and other challenging diseases.

References

Triggianni M et al. Healthcare Provider Perspectives on Management of European Patients with Systemic Mastocytosis. Abstract D3.422 presented at EAACI 2024, Valencia, Spain, May 31 – June 3.
Radia DH et al. Patient Diagnostic Journey of Systemic Mastocytosis in Europe: Results from the PRISM Survey. Abstract P2292 presented at European Hematology Association (EHA) 2024, Madrid, Spain, June 13 – 16.
Harmann K et al. Identifying KIT D816V Mutation in Patients with Evidence of Systemic MCA and Enriched for HaT: Results From the PROSPECTOR Clinical Trial. Abstract 000403. Presented at EAACI 2024, Valencia, Spain, May 31 – June 3.