Login / Signup

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

Siddharth K PrakashSoniely Lugo-RuizMichelle Rivera-DávilaNunilo RubioAvni N ShahRebecca C KnickmeyerCindy ScurlockMelissa CrenshawShanlee M DavisGary A LoriganAaron T DorfmanKaren RubinCheryl L MaslenVaneeta BambaPaul S KruszkaMichael Silberbachnull null
Published in: American journal of medical genetics. Part C, Seminars in medical genetics (2019)
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.
Keyphrases
  • case report
  • healthcare
  • patient satisfaction
  • primary care
  • growth hormone
  • stem cells
  • metabolic syndrome
  • cross sectional
  • high throughput
  • adipose tissue
  • cell therapy
  • psychometric properties