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Open Access 01-12-2024 | Turner's Syndrome | Research

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry

Authors: Sara Mansoorshahi, Cindy Scurlock, Scientific Advisory Board of the Turner Syndrome Society of the United States Research Registry, Siddharth K Prakash

Published in: Orphanet Journal of Rare Diseases | Issue 1/2024

Abstract

Background

Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive approach to healthcare and research. In 2015, the Turner Syndrome Society of the United States (TSSUS) created the Turner Syndrome Research Registry (TSRR) to engage directly with community participants who voluntarily provide longitudinal data about their experiences with TS. TSRR projects are collaborative partnerships between people with TS, TSSUS, and researchers.

Results

To ensure that registry workflows conform to the data privacy choices of participants, TSSUS collaborated with UTHealth Houston in 2021 to create a new version of the TSRR that completely separates participant health data (stored at UTHealth) and personal identifiers (maintained at TSSUS). We developed an innovative Visual Basic (VB) script that, when embedded into Microsoft Outlook, redirects REDCap surveys through TSSUS to participants by matching registry IDs to participant email addresses. Additionally, the utilization of REDCap allows for portability of data as it is an open source platform.

Conclusion

In this report, we will highlight three recent changes that more closely align the TSRR with this mission: a unique and equal collaborative partnership between UTHealth and TSSUS, an open-source platform, REDCap, that ensures data portability and compatibility across institutions, and an innovative survey routing system that retains participant confidentiality without sacrificing REDCap survey distribution capabilities to connect researchers with thousands of participants.

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Title: Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry
Authors: Sara Mansoorshahi
Cindy Scurlock
Scientific Advisory Board of the Turner Syndrome Society of the United States Research Registry
Siddharth K Prakash
Publication date: 01-12-2024
Publisher: BioMed Central
Keyword: Turner's Syndrome
Published in: Orphanet Journal of Rare Diseases / Issue 1/2024
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/s13023-024-03120-1

2024 ASCO Annual Meeting

Springer Medicine

Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry

Abstract

Background

Results

Conclusion

2024 ASCO Annual Meeting

Springer Medicine

Abstract

Background

Results

Conclusion

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