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. 2025 Jul 31:6:26330040251359676.
doi: 10.1177/26330040251359676. eCollection 2025 Jan-Dec.

Updated demographics categories to capture the true diversity of an international registry of rare disease patients

Nicole Kressin  1 , Michael E Shy  2 , Tara Jones  3 , Nidia Villalpando  2 , Gita Ramdharry  4
Affiliations

Updated demographics categories to capture the true diversity of an international registry of rare disease patients

Nicole Kressin et al. Ther Adv Rare Dis. .

Abstract

Background: NIH requires NIH-funded studies to use historical race and ethnicity categories-originally put forth by the Office of Management and Budget in 1997-for demographics collection. These historical categories were only designed for use within the United States (US). We speculated on the adequacy of these categories in capturing the true diversity of participants enrolled in the Inherited Neuropathy Consortium (INC), and their applicability for an international, broader rare disease population.

Objectives: To determine the feasibility and outcomes of using updated categories for rare disease patients that can be collapsed into the required historical categories.

Design: This was achieved by expanding on existing government categories from countries with INC sites to create categories that reached 100% consensus of the research team. Quantitative cross-sectional analysis was performed in two cohorts.

Methods: Common government census categories among the US, the United Kingdom, Italy, and Australia were used to generate updated demographic categories capturing racial, ethnic, sex, and gender identities. We piloted the updated categories at three INC sites with participants who were participating in the INC. We made a minor update and sent the survey to anyone who had joined the Rare Disease Clinical Research Network's contact registry.

Results: Both the pilot study and the contact registry saw an increase in diversity with the updated categories. The sex breakdown of the survey respondents was similar to that of the contact registry as a whole, but several participants were able to identify as nonbinary with the updated categories.

Discussion: The updated categories allow researchers to provide a more inclusive race and ethnicity identification experience to participants. This may have implications for understanding differences in study populations that may translate to treatment response and has an overall aim to increase enrollment and adherence to observational research.

Keywords: data collection; demographics; population.

Plain language summary

New demographic categories could better reflect the diversity of rare disease patients worldwide The authors noticed that the race and ethnicity categories required for NIH-funded studies might not work well for participants living outside the U.S. To address this, they created new categories that include those used by other countries but can still be grouped to match the traditional NIH categories. These updated categories were first tested on a small group of patients enrolling in the Inherited Neuropathy Consortium. After adjustments, they were tested again using a survey sent to people registered in the Rare Disease Clinical Research Network contact registry. The updated categories revealed more diversity among respondents compared to the original categories. These new categories meet federal requirements for demographic data collection and provide better insights into diverse populations outside the U.S. This approach could help researchers address health disparities in clinical studies.

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Figures

Figure 1.
Figure 1.
Race/ethnicity of contact registry.
Figure 2.
Figure 2.
Race and ethnicity selections of contact registry survey respondents who selected “More Than One Race” (N = 80).
Figure 3.
Figure 3.
(a) Sex assigned at birth of contact registry. (b) Gender identity of contact registry—updated version.
See this image and copyright information in PMC

References

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