ArticleOrphanet journal of rare diseases2011
Reducing selection bias in case-control studies from rare disease registries.
Article in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Enzyme replacement and substrate reduction therapy for Gaucher disease.The Cochrane database of systematic reviews · 2015Pooled it
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- Answer to the Letter to the Editor of V. Kumar et al. concerning "Does the use of postoperative brace help preventing mechanical complications following adult deformity surgery?" by J. Pizones et al. (Eur Spine J [2023]; doi: 10.1007/s00586-022-07521-3).European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2023Article
- Rare lysosomal disease registries: lessons learned over three decades of real-world evidence.Orphanet journal of rare diseases · 2022Review
- Statistical fundamentals on cancer research for clinicians: Working with your statisticians.Clinical and translational radiation oncology · 2021Review
- Preserved expressive language as a phenotypic determinant of Mosaic Angelman Syndrome.Molecular genetics & genomic medicine · 2019Article
- Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases.Orphanet journal of rare diseases · 2018Review
- Innovative research methods for studying treatments for rare diseases: methodological review.BMJ (Clinical research ed.) · 2014Review
- The Italian National Rare Diseases Registry.Blood transfusion = Trasfusione del sangue · 2014Article
- Use of the i2b2 research query tool to conduct a matched case-control clinical research study: advantages, disadvantages and methodological considerations.BMC medical research methodology · 2014Article
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Authors and funding
6 authors.
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Abstract
backgroundIn clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in contrast to prospective, randomized clinical trials, the observational design of registries is prone to introduce selection bias and negatively impact the validity of data analyses. The objective of the study was to demonstrate the utility of case-control matching and the risk-set method in order to control bias in data from a rare disease registry. Data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry were used as an example.
methodsA case-control matching analysis using the risk-set method was conducted to identify two groups of patients with type 1 Gaucher disease in the ICGG Gaucher Registry: patients with avascular osteonecrosis (AVN) and those without AVN. The frequency distributions of gender, decade of birth, treatment status, and splenectomy status were presented for cases and controls before and after matching. Odds ratios (and 95% confidence intervals) were calculated for each variable before and after matching.
resultsThe application of case-control matching methodology results in cohorts of cases (i.e., patients with AVN) and controls (i.e., patients without AVN) who have comparable distributions for four common parameters used in subject selection: gender, year of birth (age), treatment status, and splenectomy status. Matching resulted in odds ratios of approximately 1.00, indicating no bias.
conclusionsWe demonstrated bias in case-control selection in subjects from a prototype rare disease registry and used case-control matching to minimize this bias. Therefore, this approach appears useful to study cohorts of heterogeneous patients in rare disease registries.
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