Journal article
Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry
American journal of medical genetics. Part A, Vol.194(2), pp.311-319
02/2024
DOI: 10.1002/ajmg.a.63441
PMCID: PMC11019554
PMID: 37827984
Abstract
Abstract Inspiring New Science to Guide Healthcare in Turner Syndrome (InsighTS) Registry is a national, multicenter registry for individuals with Turner syndrome (TS) designed to collect and store validated longitudinal clinical data from a diverse cohort of patients with TS. Herein, we describe the rationale, design, and approach used to develop the InsighTS registry, as well as the demographics of the initial participants to illustrate the registry's diversity and future utility. Multiple stakeholder groups have been involved from project conceptualization through dissemination, ensuring the registry serves the priorities of the TS community. Key features of InsighTS include recruitment strategies to facilitate enrollment of participants that appropriately reflect the population of individuals with TS receiving care in the US, clarity of data ownership and sharing, and sustainability of this resource. The registry gathers clinical data on diagnosis, treatment, comorbidities, health care utilization, clinical practices, and quality of life with the goal of improving health outcomes for this population. Future directions include multiple patient‐centered clinical‐translational research projects that will use the InsighTS platform. This thorough and thoughtful planning will ensure InsighTS is a valuable and sustainable resource for the TS community for decades to come.
Details
- Title: Subtitle
- Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry
- Creators
- Roopa Kanakatti Shankar - Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium USA, Division of Endocrinology Children's National Hospital Washington District of Columbia USAAlexandra Carl - Children's Hospital ColoradoJennifer R. Law - University of North Carolina at Chapel HillVaneeta Bamba - Children's Hospital of PhiladelphiaWendy J. Brickman - Northwestern UniversitySiddharth K. Prakash - The University of Texas Health Science CenterTazim Dowlut McElroy - Sisters of Mercy Health SystemSusan Howell - Children's Hospital ColoradoIris Gutmark Little - Cincinnati Children's Hospital Medical CenterKaren O. Klein - Rady Children's Hospital-San DiegoCatherina T. Pinnaro - Iowa Diabetes and Endocrinology Research CenterKelly Ranallo - Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium USA, Turner Syndrome Global Alliance Overland Park Kansas USAMarybel Good - Inspiring New Science In Guiding Healthcare in Turner Syndrome (InsighTS) Consortium USA, Turner Syndrome Global Alliance Overland Park Kansas USAShanlee M. Davis - Children's Hospital Colorado
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.194(2), pp.311-319
- DOI
- 10.1002/ajmg.a.63441
- PMID
- 37827984
- PMCID
- PMC11019554
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Grant note
- DOI: 10.13039/100018108, name: Turner Syndrome Global Alliance
- Language
- English
- Electronic publication date
- 10/12/2023
- Date published
- 02/2024
- Academic Unit
- Endocrinology and Diabetes; Stead Family Department of Pediatrics
- Record Identifier
- 9984480136702771
Metrics
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