The Turner syndrome research registry: Creating equipoise between investigators and participants

Siddharth K Prakash; Soniely Lugo-Ruiz; Michelle Rivera-Dávila; Nunilo Rubio Jr; Avni N Shah; Rebecca C Knickmeyer; Cindy Scurlock; Melissa Crenshaw; Shanlee M Davis; Gary A Lorigan; Aaron T Dorfman; Karen Rubin; Cheryl Maslen; Vaneeta Bamba; Paul Kruszka; Michael Silberbach; Scientific Advisory Board of the TSRR

doi:10.1002/ajmg.c.31689

The Turner syndrome research registry: Creating equipoise between investigators and participants

Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):135-140. doi: 10.1002/ajmg.c.31689. Epub 2019 Feb 13.

Authors

Siddharth K Prakash¹, Soniely Lugo-Ruiz², Michelle Rivera-Dávila², Nunilo Rubio Jr², Avni N Shah², Rebecca C Knickmeyer³, Cindy Scurlock⁴, Melissa Crenshaw⁵, Shanlee M Davis⁶, Gary A Lorigan⁷, Aaron T Dorfman⁸, Karen Rubin⁹, Cheryl Maslen¹⁰, Vaneeta Bamba¹¹, Paul Kruszka¹², Michael Silberbach¹³; Scientific Advisory Board of the TSRR

Affiliations

¹ Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas.
² Division of Endocrinology, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, Texas.
³ Department of Pediatrics and Human Development, Institute for Quantitative Health Sciences and Engineering, C-RAIND Fellow, Michigan State University, East Lansing, Michigan.
⁴ Turner Syndrome Society of the United States, Houston, Texas.
⁵ Division of Genetics, Johns Hopkins All Children's Hospital, St. Petersburg, Florida.
⁶ Division of Endocrinology, Department of Pediatrics, University of Colorado School of Medicine, Colorado, Aurora.
⁷ Department of Chemistry and Biochemistry, Miami University, Oxford, Ohio.
⁸ Division of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
⁹ Department of Pediatrics, Division of Diabetes and Endocrinology, Connecticut Children's Medical Center, Hartford, Connecticut.
¹⁰ Department of Molecular and Medical Genetics, Oregon Health & Science University, Oregon, Portland.
¹¹ Division of Endocrinology, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
¹² Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health.
¹³ Division of Pediatric Cardiology, Department of Pediatrics, Oregon Health & Science University, Oregon, Portland.

Abstract

To address knowledge gaps about Turner syndrome (TS) associated disease mechanisms, the Turner Syndrome Society of the United States created the Turner Syndrome Research Registry (TSRR), a patient-powered registry for girls and women with TS. More than 600 participants, parents or guardians completed a 33-item foundational survey that included questions about demographics, medical conditions, psychological conditions, sexuality, hormonal therapy, patient and provider knowledge about TS, and patient satisfaction. The TSRR platform is engineered to allow individuals living with rare conditions and investigators to work side-by-side. The purpose of this article is to introduce the concept, architecture, and currently available content of the TSRR, in anticipation of inviting proposals to utilize registry resources.

Keywords: Turner syndrome; patient-centered; registry; research.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Female
Humans
Male
Parents
Patient Participation
Registries*
Research / organization & administration*
Surveys and Questionnaires
Turner Syndrome*

Abstract

Publication types

MeSH terms

Grants and funding