CER Comparative Effectiveness HTA

Valuing treatments for rare disease

That is the topic of a recent white paper from the Innovation and Value Initiative titled “Valuing Rare Disease Treatments in Healthcare: Real Experience, Real Impact“. The report notes a number of challenges in assessing treatment value in rare disease (see my white paper “Challenges in Preserving Access to Orphan Drugs Under an HTA Framework” for a more detailed discussion of this topic). For instance, there is often a lack of consensus on the on the outcomes that need to be assessed in clinical studies, in part due to the small size of the patient population. Further, because these diseases are rare, any real world data is likely to have–by definition–a very small sample size.

  • Patient Journey and Time. The patient journey and time, which include the disease’s natural history and its evolving impact on patients, is important to consider when identifying and prioritizing outcomes important to rare disease patients.
  • Caregiver Journey. Throughout a patient’s health journey, caregivers provide vital support, assistance, and advocacy for their loved ones. It is essential to understand the health and other impacts on caregivers.
  • Early and Continuing Engagement and Communication. Initiating and continuing patient/caregiver engagement with other stakeholders is critically essential to conducting fully patient-centered research and helpful for decision-making.
  • Data and Methods. Comprehensive, representative data plays an important role in value assessment and patient-centered outcomes research, especially when dealing with rare diseases. Collaboration should be encouraged to enhance data collection, and mixed (qualitative and quantitative) methods should also be promoted to incorporate lived experiences as meaningful input.
  • Economic Impacts. Understanding the economic impacts on patients and caregivers can help payers and other decision-makers to better design plans and strategies to ultimately improve patients’ experiences and outcomes.
  • Scientific Spillover. Innovative treatments developed for one rare disease may be re-purposed or modified to treat additional rare diseases. Given the limited resources and data available for the study of rare disease treatments, the value of it could be especially beneficial.
  • Identifying Common Patient-Centered Outcomes for Economic Modeling. Identifying common patient-centered outcomes across rare diseases can help accelerate crosscutting research, enhance our understanding of diseases themselves, patient perspectives, and potentially improve comparative effectiveness research methods.

Some additional resources mentioned include:

  • National Health Council’s Patient-Centered Core Impact Sets (PC-CIS). PC-CIS is a standardized, patient-derived and patient-prioritized list of the most important impacts a disease and/or its treatments have on a patient’s health and daily life, and that of their family and caregivers.
  • IVI and AcademyHealth Economic Impacts Framework. A framework that identifies the scope of economic impacts affecting patients and caregivers
  • Common outcomes for rare disease evaluation. These included: motor function, fatigue, social relationships, pain, mental deterioration (e.g., cognition), mental health (i.e., anxiety, depression), employment, economics, and sleep.

You can read the full report here.