ReviewIntractable & rare diseases research2018
A compilation of national plans, policies and government actions for rare diseases in 23 countries.
Review in Intractable & rare diseases research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 2 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 103 citations in OpenAlex.
- The relative importance of severity and rarity criteria in health resource allocation: an umbrella review.International journal of technology assessment in health care · 2024Pooled it
- Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis.Orphanet journal of rare diseases · 2020Pooled it
- Smartphone-Based Proactive Self-Screening for Ocular Surface Malignancies: A Nonrandomized Clinical Trial.JAMA ophthalmology · 2026Trial
- The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.JMIR medical informatics · 2026Article
- Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registry.BMC global and public health · 2026Review
- Regional Analysis of the Structural Availability of Physical and Rehabilitation Medicine Services Funded by the National Health Insurance Fund for Patients with Rare Diseases in Bulgaria.Healthcare (Basel, Switzerland) · 2026Article
- 'If You Don't Fight for Yourself, No One Else Will': An In-Depth Interpretative Phenomenological Analysis of Rare Disorder Care Advocacy in Aotearoa New Zealand.Health expectations : an international journal of public participation in health care and health policy · 2026Article
- Translating multi-omics into healthcare: requisites for scalable and equitable implementation.Human genomics · 2026Review
- Unmet Needs in the Care of Patients with Duchenne Muscular Dystrophy in Brazil.Arquivos de neuro-psiquiatria · 2026Observational
- Strengthening Medical Genetics and Genomic Medicine in Colombia: Progress, Challenges, and Strategic Opportunities.Journal of community genetics · 2025Article
- Methodological challenges in outcomes research for early-trials for implementation of new therapies in neuropediatric rare diseases.Orphanet journal of rare diseases · 2025Article
- A structured approach for identifying disease analogs for pulmonary arterial hypertension.Journal of managed care & specialty pharmacy · 2025Article
- Effects of continuing medical education on emergency trainees' rare disease knowledge and attitude: a single-center study.BMC medical education · 2025Article
- Rare disease challenges and potential actions in the Middle East.International journal for equity in health · 2025Article
- Epidemiology and Burden of Illness of Lennox-Gastaut Syndrome in Taiwan: A Retrospective Cohort Study.Risk management and healthcare policy · 2025Article
- The role of public health in rare diseases: hemophilia as an example.Frontiers in public health · 2025Review
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case.Journal of community genetics · 2024Article
- Would Artificial Intelligence Improve the Quality of Care of Patients With Rare Diseases?Global journal on quality and safety in healthcare · 2024Article
- Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.Orphanet journal of rare diseases · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Previous studies have focused on the comparison of specific laws among multiple countries and regions; for example, laws related to facilitating treatments with orphan drugs or laws seeking to address the multiple needs of patients with rare diseases. The purpose of this scoping review is to examine and compare published reports on national plans, polices and legislation related to all rare diseases in different countries. We also examine strategies or programs that countries may have for these diseases. Articles were obtained from journals and books published between January 1, 2000, through December 15, 2017. Reports from the grey literature (documents issued by government and private organizations) were included if they were available on the internet. The databases used were Google and Google Scholar, PubMed, and the websites of Orphanet and the National Organization for Rare Disorders (NORD). We obtained information on 23 countries. Among these countries, the way in which rare diseases were defined varied from having similar definitions to no definition. Multinational programs supported by common or similar laws are likely to have a greater impact on rare diseases than single country programs.
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.