PURPOSE: To provide guidelines for retrospective studies of with rare- and ultra-rare diseases that use administrative data. The workshop will draw on real-world HEOR study examples.

DESCRIPTION: Innovations in medicine increasingly target rare and ultra-rare diseases, many of which do not have specific diagnosis codes. Researchers charged with quantifying the "real-world" burden of disease may be stymied by the inability to easily distinguish patients with the disease. Challenges range from diseases grouped with similar diseases under the same ICD code to diseases that are not assigned any ICD diagnosis code. Additional challenges arise when rare diseases that do not lend themselves to a standard pre-/post-index study. This workshop will provide guidelines for developing algorithms to identify rare and ultra-rare disease patients, methods for defining study timeframes, measures and outcomes, and examples of applying these guidelines in real-world HEOR studies. Examples will be drawn from HEOR analyses, including ultra-rare genetic disorders amenable to gene and other therapies.

Topics to be addressed include: 1) methods for patient identification when disease specific diagnosis codes are not available or insufficient; 2) study timeframes for diseases where patients cannot be followed for a standard pre-/post-index period; 3) assessing outcomes in the absence of clinical data; 4) calibrating study design and results to reflect clinical input.

At the start of the presentation, the speaker will ask the audience for examples of challenges they face in HEOR research in rare and ultra-rare disease. After the main presentation, the speakers will provide two example diseases and discuss and hold an interactive discussion on how session learnings could be applied to a retrospective study of these diseases.