An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development

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.

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

“…As stated earlier, genetic testing and hormonal diagnosis must be considered complementary in DSD. To allow better understanding of DSDs and, hence, improved diagnostic algorithm in the future, this COST Action strongly recommends that molecular data together with clinical and biochemical data in DSDs should be prospectively collected in international databases like I-DSD Registry ( 33 ). The I-DSD Registry ( www.i-dsd.org ) currently has a facility to act as a secure repository for detailed genetic data.…”

Antithyroid Drug Therapy for Graves’ Disease and Implications for Recurrence

“…It is generally accepted that younger GD patients have more severe immune disorders [32]. Previous studies showed that younger GD patients have a relatively poor response to ATD and often have a poor prognosis and higher recurrence risk [5, 33, 34].…”

The current landscape of European registries for rare endocrine conditions

“…Whilst the current survey shows that many centres are collecting data in local registries, participation in international registries is often considered to be the gold standard for improving the quality of research, improving patient care and the external validity of registries for rare conditions (11, 12, 13). However, one of the most challenging aspects of developing an international detailed disease registry is the requirement of a common dataset based on a standardised data entry (10).…”