An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affect
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RESEARCH
Open Access
An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development M. Kourime1,2*, J. Bryce1, J. Jiang1, R. Nixon1, M. Rodie1 and S.F. Ahmed1
Abstract Background: 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. Methods: The 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. Results: The 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. Conclusions: The 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. Keywords: Congenital adrenal hyperplasia, Data quality, Disorders of sex development, Research quality, Validity
Background By enabling surveillance, audit and research through a virtual environment, registries have the potential to improve the care of people with rare conditions and diseases. These registries may be particularly useful for heterogeneous groups of rare conditions such as disorders of sex development (DSD) where the perceived stigma of the condition, the gaps in knowledge about * Correspondence: [email protected] 1 Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Royal Hospital For Children, Office Block, 1345 Govan Road, Glasgow G51 4TF, UK 2 School of Medicine and Pharmacy, University of Hassan II, Tarik Ibnou Ziad Road, Casablanca 20250, Morocco
aetiology and long-term outcome and the lack of expert and evidence-based multidisciplinary care result in substantial variation in patient care and disaffection [1]. In such situations, important lessons can on
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