Retrospective outcomes studies for orphan diseases: challenges and opportunities

Abstract

Retrospective outcomes studies for orphan diseases are scarce in the literature because of the significant methodological and data challenges that researchers have to overcome. Over the last two decades, many opportunities have emerged to mitigate these challenges. In this editorial we examined the common challenges in retrospective outcomes studies as well as the emerging opportunities that researchers can utilize to overcome those challenges. With the introduction of two retrospective orphan disease studies in this issue, we encourage more researchers to take advantage of the emerging opportunities to conduct and publish more retrospective outcomes studies for orphan diseases. This can provide important real-world insights into orphan diseases, including how they are being treated.

Keywords::

• Comparative health outcomes research
• Orphan diseases
• Rare diseases
• Retrospective study

Transparency

Declaration of funding

This editorial was not funded.

Declaration of financial/other interests

P.S. has disclosed that he is employed by Kailo Research Group, a company that has received unrestricted research grants from Novartis. L.P.G. had disclosed that he has no significant relationships with or financial interests in any commercial companies related to this article.

The CMRO peer reviewer on the editorial has disclosed that he has no relevant financial relationships.