Abstract
BackgroundWith the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses.MethodsThe design and operational aspects of the registries were evaluated against published quality indicators. Additional criteria included the level of activity, international acceptability of the registries and their use for research.ResultsThe design of the I-DSD and I-CAH Registries provides them with the ability to perform multiple studies and meet the standards for data elements, data sources and eligibility criteria. The registries follow the standards for data security, governance, ethical and legal issues, sustainability and communication of activities. The data have a high degree of validity, consistency and accuracy and the completeness is maximal for specific conditions such as androgen insensitivity syndrome and congenital adrenal hyperplasia. In terms of research output, the external validity is strong but the wide variety of cases needs further review. The internal validity of data was condition specific and highest for conditions such as congenital adrenal hyperplasia. The shift of the registry from a European registry to an international registry and the creation of a discrete but linked CAH registry increased the number of users and stakeholders as well as the international acceptability of both registries.ConclusionsThe I-DSD and I-CAH registries comply with the standards set by expert organisations. Recent modifications in their operation have allowed the registries to increase their user acceptability.
Highlights
With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-disorders of sex development (DSD) and I-Congenital adrenal hyperplasia (CAH) Registries and identify their strengths and weaknesses
As the International Disorder of Sex Development (I-DSD) and I-CAH registries mature, the need for ensuring the quality and value of these registries becomes more important especially if there is a need to sustain them over the longer term
This study has been performed to describe the most important features of the I-DSD and I-CAH registries that allow them to be compared against quality benchmarks
Summary
With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses. Audit and research through a virtual environment, registries have the potential to improve the care of people with rare conditions and diseases. Kourime et al Orphanet Journal of Rare Diseases (2017) 12:56 initially involved a handful of centres in Europe but currently involves clinical users from all five continents These health care professionals provide care for a range of conditions affecting sex development as well as congenital adrenal hyperplasia and the two registries, I-DSD and I-CAH, that have developed have started to demonstrate their ability to perform several functions including research, patient management, patient accessible records and for clinical and expert networking. The study explores additional quality criteria that could be considered in the future
Sign-in/Register to view highlights & summary 
Published Version
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call