Data Quality in Rare Diseases Registries

Kodra, Yllka; Paz, Manuel Posada de la; Coi, Alessio; Santoro, Michele; Bianchi, Fabrizio; Ahmed, Faisal; Rubinstein, Yaffa; Weinbach, Jérôme; Taruscio, Domenica

doi:10.1007/978-3-319-67144-4_8

Cited by 69 publications

(104 citation statements)

References 23 publications

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“…To improve our knowledge of longer-term outcomes in patients with all types of EB, enrollment of patients, including those with milder forms of EB, will be critical. 17 …”

Section: Discussionmentioning

confidence: 99%

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Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America

et al. 2019

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IMPORTANCE Children with epidermolysis bullosa (EB) comprise a rare population with high morbidity and mortality. An improved understanding of the clinical trajectory of patients with EB, including age at time of clinical diagnosis and major clinical events, is needed to refine best practices and improve quality of life and clinical outcomes for patients with EB. OBJECTIVES To describe demographics, clinical characteristics, milestone diagnostic and clinical events (such as initial esophageal dilation), and outcomes in patients with EB using the Epidermolysis Bullosa Clinical Characterization and Outcomes Database and to determine what characteristics may be associated with overall EB severity and/or disease progression. DESIGN, SETTING, AND PARTICIPANTS This cohort study included data on patients with EB who were enrolled in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database from January 1, 2011, to June 30, 2017; 17 participating EB centers in the United States and Canada contributed data to this study. EXPOSURES Type of EB, including recessive dystrophic epidermolysis bullosa (RDEB), junctional epidermolysis bullosa (JEB), dominant dystrophic epidermolysis bullosa (DDEB), and epidermolysis bullosa simplex (EBS). MAIN OUTCOMES AND MEASURES Demographic information, clinical characteristics (including age at onset of signs of EB and subsequent clinical diagnosis), types of diagnostic testing performed, and milestone clinical events for patients with RDEB. RESULTS Of 644 enrolled patients from 17 sites included in this study, 323 were male (50.2%), with a mean (SD) age of 14.4 (11.7) years; 283 (43.9%) had RDEB, 194 (30.1%) had EBS, 104 (16.2%) had DDEB, and 63 (9.8%) had JEB. Signs of disease were present at birth in 202 patients with RDEB (71.4%), 39 with JEB (61.9%), 60 with DDEB (57.7%), and 74 with EBS (38.1%). For those with signs of disease at birth, a clinical diagnosis was made at the time of birth in 135 patients with RDEB (67.0%), 31 with DDEB (52.6%), 35 with EBS, (47.3%) and 18 with JEB (46.2%). Patients with JEB had the highest rate of any confirmatory testing (51 of 63 [81.0%]), followed by RDEB (218 of 283 [77.0%]), DDEB (71 of 104 [68.3%]), and EBS (100 of 194 [51.5%]). For all types of EB, both electron microscopy and immunofluorescence microscopy were performed at younger ages than genetic analysis. Among 283 patients with RDEB, 157 (55.5%) had esophageal dilation, 104 (36.7%) had gastrostomy tube placement, 62 (21.9%) had hand surgery, 18 (6.4%) developed squamous cell carcinoma, and 19 (6.7%) died. CONCLUSIONS AND RELEVANCE The findings suggest that diagnostic testing for EB is more common for patients with severe phenotypes. Earlier diagnostic testing may enable improved characterizations of patients so that appropriate counseling and clinical care may be offered, especially pertaining to milestone events for those with RDEB.

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“…To improve our knowledge of longer-term outcomes in patients with all types of EB, enrollment of patients, including those with milder forms of EB, will be critical. 17 …”

Section: Discussionmentioning

confidence: 99%

“…Each Epidermolysis Bullosa Clinical Research Consortium site collaborates in the Epidermolysis Bullosa Clinical Characterization and Outcomes Database (EBCCOD) to catalog well-described patient cohorts with EB for future studies and to generate longitudinal data about the course, complications, and treatment of patients with EB. 17 …”

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confidence: 99%

Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America

et al. 2019

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“…Appropriate design, implementation and deployment of patient registries enables rapid decision making and ongoing data mining, ultimately leading to improved patient outcomes. [7,19,20] In the speci c eld of rare diseases, the use of registries increases research accessibility for individuals, while providing clinicians/investigators with a coherent data ecosystem necessary to boost research. The IRD-PT module of retina.pt will facilitate the e cient capture of accurate, longitudinal, country-wide data for IRDs.…”

Section: Discussionmentioning

confidence: 99%

Design, Development and Deployment of a Web-Based Interoperable Registry for Inherited Retinal Dystrophies in Portugal -The Ird-Pt

Marques

Carvalho

Henriques

et al. 2020

Preprint

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BACKGROUND: The development of multicenter patient registries promotes the generation of scientific knowledge by using real-world data. A country-wide, web-based registry for inherited retinal dystrophies (IRDs) empowers patients and community organizations, while supporting formal partnerships with investigators and stakeholders in the global aim to develop high-value, high-utility research. We aim to describe the design, development and deployment of a country-wide, web-based, user-friendly and interoperable registry for IRDs – the IRD-PT.RESULTS: The IRD-PT is a clinical/genetic research registry included in the retina.pt platform (http://www.retina.com.pt), which was developed by the Portuguese Retina Study Group. The retina.pt platform collects data on individuals diagnosed with retinal diseases, from several sites across Portugal, with over 1800 participants and over 30,000 consultations to date. The IRD-PT module interacts with the retina.pt core system which provides a range of basic functions for patient data management, while the IRD-PT module allows data capture for the specific purpose of IRDs. All IRDs are coded accordingly to the International Statistical Classification of Diseases and Related Health Problems (ICD) 9, ICD 10, ICD 11, and Orphanet Rare Disease Ontology (ORPHA codes) to make the IRD-PT interoperable with other IRD registries across the world. Furthermore, the genes are coded according to the Ontology of Genes and Genomes and Online Mendelian Inheritance in Man, whereas signs and symptoms are coded according to the Human Phenotype Ontology. The IRD-PT module pre-launched at Centro Hospitalar e Universitário de Coimbra, the largest reference center for IRDs in Portugal. As of April 1st 2020, finalized data from 537 participants were available for this preliminary analysis. CONCLUSIONS: In the specific field of rare diseases, the use of registries increases research accessibility for individuals, while providing clinicians/investigators with a coherent data ecosystem necessary to boost research. Appropriate design and implementation of patient registries enables rapid decision making and ongoing data mining, ultimately leading to improved patient outcomes. We have described here the principles behind the design, development and deployment of a web-based, user-friendly and interoperable software tool aimed to generate important knowledge and collecting high-quality data on the epidemiology, genomic landscape and natural history of IRDs in Portugal.

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“…The quality of data is defined by attributes such as completeness, accuracy, timeless, usefulness, interoperability, accessibility, and data security [13]. All these attributes are interrelated and it is important to define objectives for data quality and to find a good balance among them.…”

Section: Data Qualitymentioning

confidence: 99%

“…Based on geographic coverage, registries can be classified as: population-based registries, which refer to a geographically defined population and their aim is to register all cases in that population; and non-population-based registries, which are based on selected bodies, clinical centres or other types of structures where the population coverage may not be comprehensive [13]. …”

Section: Introductionmentioning

confidence: 99%

Recommendations for Improving the Quality of Rare Disease Registries

Kodra

Weinbach

Paz

et al. 2018

IJERPH

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Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality.

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Data Quality in Rare Diseases Registries

Cited by 69 publications

References 23 publications

Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America

Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America

Design, Development and Deployment of a Web-Based Interoperable Registry for Inherited Retinal Dystrophies in Portugal -The Ird-Pt

Recommendations for Improving the Quality of Rare Disease Registries

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