Kourime M, Bryce J, Jiang J, Nixon R, Rodie M, Ahmed S F
Developmental Endocrinology Research Group, School of Medicine, University of Glasgow, Royal Hospital For Children, Office Block, 1345 Govan Road, Glasgow, G51 4TF, UK.
School of Medicine and Pharmacy, University of Hassan II, Tarik Ibnou Ziad Road, Casablanca, 20250, Morocco.
Orphanet J Rare Dis. 2017 Mar 20;12(1):56. doi: 10.1186/s13023-017-0603-7.
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.
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.
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.
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.
随着罕见病登记处数量的增加，登记处需要根据商定的标准对其质量进行评估，以确保其长期可持续性和可接受性。本研究旨在评估国际双性发育异常（I-DSD）登记处和先天性肾上腺皮质增生症（I-CAH）登记处，并确定它们的优势和劣势。
根据已发表的质量指标对登记处的设计和运营方面进行评估。其他标准包括活动水平、登记处的国际可接受性及其在研究中的应用。
I-DSD和I-CAH登记处的设计使其有能力开展多项研究，并符合数据元素、数据来源和纳入标准的要求。登记处遵循数据安全、管理、伦理和法律问题、可持续性以及活动沟通等方面的标准。数据具有高度的有效性、一致性和准确性，对于雄激素不敏感综合征和先天性肾上腺皮质增生症等特定病症，数据完整性达到最高水平。在研究产出方面，外部效度较强，但病例种类繁多需要进一步审查。数据的内部效度因病症而异，对于先天性肾上腺皮质增生症等病症最高。登记处从欧洲登记处转变为国际登记处，以及创建一个独立但相互关联的CAH登记处，增加了用户和利益相关者的数量，同时也提高了两个登记处的国际可接受性。
I-DSD和I-CAH登记处符合专家组织制定的标准。其近期运营方面的改进提高了登记处的用户可接受性。
