ReviewBMJ (Clinical research ed.)2014
Innovative research methods for studying treatments for rare diseases: methodological review.
Review in BMJ (Clinical research ed.), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07016282 (Simulated and Synthetic Health Data), which is not on this map. Cited by 94 papers, 8 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Simulated and Synthetic Health Data: Improving Clinical Research on Rare Diseases. A Real-World Data Simulation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) Trials. A Retrospective, Observational Study
Who cites it
94 citing papers in PubMed, 8 syntheses or guidelines pooled it, 195 citations in OpenAlex.
- Pooled it
- Safety and Efficacy of PTH 1-34 and 1-84 Therapy in Chronic Hypoparathyroidism: A Meta-Analysis of Prospective Trials.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Pooled it
- Necessity of Prophylactic Extrapleural Chest Tube During Primary Surgical Repair of Esophageal Atresia: A Systematic Review and Meta-Analysis.Frontiers in pediatrics · 2022Pooled it
- Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2018Pooled it
- Characteristics of clinical trials in rare vs. common diseases: A register-based Latvian study.PloS one · 2018Pooled it
- Pooled it
- Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.Orphanet journal of rare diseases · 2017Pooled it
- Physical Therapy and Exercise Interventions in Huntington's Disease: A Mixed Methods Systematic Review.Journal of Huntington's disease · 2017Pooled it
- In search of effective therapies: the current landscape of phase II trials in patients with advanced soft tissue sarcoma.Journal of cancer research and clinical oncology · 2023Trial
- Novel clinical trial design and analytic methods to tackle challenges in therapeutic development in rare diseases.Annals of translational medicine · 2022Trial
- Trial
- Caveats on Using Firth's Penalization in the Model-Based Regression Standardization for Rare Diseases.Statistics in medicine · 2026Article
- Therapeutic hypothermia at 35 weeks' gestation: navigating controversy between randomized evidence, real-world practice, and shared decision-making.Pediatric research · 2026Article
- Meta-analytic-predictive priors based on a single study.Research synthesis methods · 2026Article
- Attack rate reductions following berotralstat initiation among US patients with hereditary angioedema in the real-world.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2026Article
- Analysis of Pro- and Anti-Inflammatory Gene Response Patterns in Patients Receiving Phage Therapy.International journal of molecular sciences · 2025Observational
- Tailored therapeutics for cardiomyopathies.Nature reviews. Cardiology · 2025Review
- Involvement of patient organisations in research activities: actions taken and lessons learned in a clinical research study for osteogenesis imperfecta.Orphanet journal of rare diseases · 2025Article
- Patient experience with pulmonary hypertension in Spain.Orphanet journal of rare diseases · 2025Article
- Application of observational research methods to real-world studies for rare disease drugs: A scoping review protocol.PloS one · 2025Article
34 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo examine methods for generating evidence on health outcomes in patients with rare diseases.
designMethodological review of existing literature.
settingPubMed, Embase, and Academic Search Premier searched for articles describing innovative approaches to randomized trial design and analysis methods and methods for conducting observational research in patients with rare diseases.
main outcome measuresWe assessed information related to the proposed methods, the specific rare disease being studied, and outcomes from the application of the methods. We summarize methods with respect to their advantages in studying health outcomes in rare diseases and provide examples of their application.
resultsWe identified 46 articles that proposed or described methods for studying patient health outcomes in rare diseases. Articles covered a wide range of rare diseases and most (72%) were published in 2008 or later. We identified 16 research strategies for studying rare disease. Innovative clinical trial methods minimize sample size requirements (n=4) and maximize the proportion of patients who receive active treatment (n=2), strategies crucial to studying small populations of patients with limited treatment choices. No studies describing unique methods for conducting observational studies in patients with rare diseases were identified.
conclusionsThough numerous studies apply unique clinical trial designs and considerations to assess patient health outcomes in rare diseases, less attention has been paid to innovative methods for studying rare diseases using observational data.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.