The Disease May Be Rare, But The Struggle is Real – We Support The Fight Against Rare Diseases

Pharmerit is proud to support research that focuses on the needs and perspectives of patients with rare diseases. In honor of Rare Disease Day on February 28, 2018, we showcase some of our recent work demonstrating how patient engagement is a key part of our mission to improve patient access to medical care with a focus on rare diseases. As a proud member of the Patient Focused Medicines Development(PFMD) program, our researchers have conducted patient-centered research in the following rare disease areas, among many others:

Cystic Fibrosis
Generic HRQoL measures can help healthcare decision makers evaluate the value of new treatments from a patient perspective. Pulmonary exacerbations (PEs) and lung function decline (measured by forced expiratory volume [FEV1]) negatively impact HRQoL and survival in patients with cystic fibrosis (CF). Working with our sponsor, Pharmerit scientists used data from the STRIVE clinical trial to conduct the first assessment of the impact of both lung function and PEs on a generic HRQoL measure (EQ-5D-3L) in patients with CF.
Rare Hematologic Diseases
Patients with myelodysplastic syndrome, transfusion-dependent anemias, beta-thalassemia, or sickle cell disease rely on iron chelation therapy to prevent the serious long-term health consequences of iron overload. Pharmerit researchers interviewed patients and caregivers in 6 US cities to assess treatment satisfaction and compliance with an oral therapy and developed new PRO and observer-reported outcome (ObsRO) measures for future clinical trials.
Analyzed the impact of hemophilia and bleeding episodes on work, school, and family activities among patients with congenital hemophilia complicated by inhibitors, as well as their caregivers (for children <18 years old) and families. The analysis found a high percentage of bleeding episodes falling on non-workdays or non-school days, suggesting that previous studies focusing on lost days alone may have underestimated the impact of bleeding episodes. Results also suggest that a more comprehensive tool is needed to assess the impact of hemophilia on pediatric patients’ caregivers and siblings, as well as the partners and families of adult patients.
First study to use the time trade off (TTO) method to evaluate individual preferences for different AML health states using a sample from the general UK population. The resulting utility values can be used in health technology appraisals (HTA) of AML treatments to support market access and reimbursement decisions based on clinical- and cost-effectiveness.
Rare Neurodegenerative Disorders
This study estimated the global prevalence of hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN). The study’s global prevalence estimate of 10,000 cases approximated the maximum commonly accepted estimate, but the study’s upper limit estimate of almost 40,000 cases globally implies potentially higher hATTR-PN prevalence. These results highlight the need to increase rare-disease epidemiological assessment and clinician awareness.