Press Contact: Sarah Shelson

New framework for the evaluation of rare disease therapies prioritizes patient experiences, feedback, and needs


WASHINGTON — Patients Rising, a non-profit organization that advocates on behalf of patients with chronic and rare disease, today released its Health Technology Assessment Best Practices for Rare Disease Drugs, a set of standards that outline a new approach to Health Technology Assessments (HTAs).

HTAs simulate cost-effectiveness of new treatments from the payers’ perspective to determine coverage and access for patients. The current payer-centric ‘QALY and cost’ health economic models unfairly disadvantage rare disease communities and lead to health inequities.

“Thirty million Americans live with a rare disease and half of those patients are children,” said Terry Wilcox, Founder and CEO of Patients Rising.  “Rare disease patients and caregivers face unique challenges and a long and complicated journey to diagnosis and optimal care. Getting a new rare disease treatment approved is difficult enough, patients do not need HTA bodies second-guessing the FDA or establishing access barriers because their models are ill-equipped to assess these therapies. It is in the interest of all stakeholders to use better measures of patient values and invest in generating long-term evidence to better understand these diseases and determine the actual impact these therapies have on patients and caregivers.”

The standards were carefully developed to eliminate health disparities experienced by patients with rare diseases, by ensuring that any evaluations of cost-effectiveness for emerging rare disease treatments are patient-centric, adaptable for specific diseases, and improve patient access to new rare disease treatments. 

The Rare Disease Health Technology Assessment initiative began in January 2022 and sought insights from health economists, experts in patient-reported outcomes, drug developers and patients, and proposed best practices for rare disease HTAs that are tailored to individual disease states. Patients Rising Delegates, a group of chronic disease patient advocates and caregivers, issued a resolution in support of the best practices.

“HTA assessments should not add to an already too long and complicated journey for Rare Disease patients,” MacKay Jimeson, Executive Director of the Patient Access & Affordability Project said. “These best practices aim to counter the ‘QALY and cost’ health economic models that disadvantage Rare Disease communities and lead to an inequitable allocation of healthcare. This approach puts the patients at the center of healthcare decisions and takes the long view on evidence generation that is required with Rare Diseases.”

The rare disease community includes an estimated 30 million patients, but over 90% of rare diseases currently have no FDA-approved treatment. Due to the complexities of rare diseases, the group found that current HTAs are overly generic and often fail to include patient experiences in the development process.

To amend this and improve health equity for the rare disease community, the group recommended:

  1. HTAs must adopt a transparent and equitable process that collaborates with disease-specific specialists to assess how a new treatment will reduce health disparities;
  2. HTAs must use science-based value claims to determine pricing and access decisions for patients, most notably by abandoning discriminatory metrics like the quality adjusted life year (QALY); and
  3. HTAs must encourage evidence generation, such as the development of data systems and patient registries, to get a robust understanding of patient experiences.

The Rare Disease Health Technology Assessment Working Group is fueled by the Patient Access and Affordability Project, a program of Patients Rising.

Health Technology Assessment Best Practices for Rare Disease Drugs

Patients Rising Delegates Resolution on the HTA Best Practices