Health Economic and Outcomes Research (HEOR) is a critical field that provides valuable insights into the economic impact and effectiveness of healthcare interventions, particularly in the context of ultra-rare diseases. These diseases, which affect fewer than one in 50,000 individuals, present unique challenges for patients, healthcare providers, and policymakers. This article explores the importance of HEOR in ultra-rare diseases, drawing on key studies by Sergio Harari and others.
The Unique Challenges of Ultra-Rare Diseases
Ultra-rare diseases are often characterized by a lack of awareness and understanding due to their extremely low prevalence. This rarity complicates efforts to diagnose, treat, and manage these conditions. Traditional clinical trials are often impractical because of the small patient populations, resulting in limited data on the safety and efficacy of potential treatments. Additionally, the high costs associated with developing therapies for such small markets can discourage research & development investment in these disease areas.
Economic Evaluation
Economic evaluations are crucial for justifying the high costs associated with developing and delivering treatments for ultra-rare diseases. Harari (2016) emphasizes that these evaluations help stakeholders understand the value of novel therapies by considering not only direct medical costs but also indirect costs such as lost productivity and long-term care needs. By providing a detailed economic analysis, HEOR supports informed decision-making and resource allocation, ensuring that investments in new treatments are justified by their long-term benefits. However, collecting this data to support economic evaluations can be challenging as often existing secondary data is not specific enough for ultra-rare conditions and primary data collection of medical records requires substantial investment limiting research efforts.
Methodological Considerations
Ultra-rare diseases often have a profound impact on patients' quality of life and their families, making the measurement of outcomes critical. Harari and Humbert (2020) highlight even though less stringent criteria may be used for ultra-rare conditions this does not mean research should be reduced quality, advocating for well organised, patient-centred, multidisciplinary approach to outcomes research.
Given the unique methodological challenges for ultra-rare conditions specialized and flexible approaches are required to conduct HEOR research. For example, alternative methods such as remote studies could be utilised using digital applications to overcome barriers of geography and low prevalence. In addition, primary research efforts focused on collecting patient reported data should be prioritised due to the heterogeneous nature of ultra-rare diseases as often only patients and their families can truly report the burden on these individuals. In addition, this methodology often reduces the cost of primary research as it would not be required to be a site based study which in turn could allow the research to be conducted at a a quicker pace. The insights of such research could complement remote clinical trial data, offering a more comprehensive understanding of patient outcomes.
Challenges and Future Directions
Despite its importance, HEOR in ultra-rare diseases faces several challenges. The scarcity of data, methodological complexities to conduct research and limited investment can hinder research efforts. However, advancements in digital data collection, novel methodologies, and increased disease awareness are helping to overcome these barriers. Future directions for HEOR in ultra-rare diseases should focus on increased collaboration between stakeholders, including researchers, healthcare providers, patients, and policymakers to drive progress in this field.
Referenced Literature
Harari S. Why we should care about ultra-rare disease. Eur Respir Rev. 2016 Jun;25(140):101-3. doi: 10.1183/16000617.0017-2016. PMID: 27246584; PMCID: PMC9487247.
Harari S, Humbert M. Ultra-rare disease: a European perspective. Eur Respir Rev. 2020 Jul 3;29(156):200195. doi: 10.1183/16000617.0195-2020. PMID: 32620589; PMCID: PMC9488651.
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