ReviewPharmaceutical medicine2020
Establishing Patient Registries for Rare Diseases: Rationale and Challenges.
Review in Pharmaceutical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
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
70 citing papers in PubMed.
- Awareness and perceptions of patient and public involvement in rare disease research in Japan: the role of patient advocacy groups and family members.Research involvement and engagement · 2026Article
- Robot-assisted surgery for male reproductive diseases: global research trends, collaboration networks, and thematic evolution.Journal of robotic surgery · 2026Review
- Myotonic dystrophy family registry. The patient experience.Journal of neuromuscular diseases · 2026Article
- Expert Consensus and Clinical Pathway Recommendations for Transthyretin Amyloid Cardiomyopathy in Malaysia.International journal of heart failure · 2026Review
- Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registry.BMC global and public health · 2026Review
- Review
- The Potential of Digital Twins for Pediatric Rare Diseases.CPT: pharmacometrics & systems pharmacology · 2026Review
- Global research status and trends in macrodactyly research: Bibliometric and visualized analysis from 2005 to 2025.Medicine · 2026Article
- Ethics and regulatory guidance to address the challenges encountered in research on rare diseases in a multinational dimension: the experience of a European funded programme.BMC medical ethics · 2026Article
- A weakly supervised transformer for rare disease diagnosis and subphenotyping from EHRs with pulmonary case studies.NPJ digital medicine · 2026Article
- Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study.Journal of nursing management · 2026Article
- On the crossroads of interdisciplinary medicine in amyloidosis - study protocol for a single-center interdisciplinary registry study.PloS one · 2026Article
- Neuropsychiatric research databases for people with intellectual disabilities and epilepsy (REFINE): a feasibility study protocol.BMJ open · 2025Article
- Pathways to improving the awareness, diagnosis and management of lipodystrophy in Brazil: an expert panel discussion.Diabetology & metabolic syndrome · 2025Review
- Real-World Data and Causal Machine Learning to Enhance Drug Development.Therapeutic innovation & regulatory science · 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
- CASCADE: a community-engaged action model for generating rapid, patient-engaged decisions in clinical research.BMC medical research methodology · 2025Article
- Personal Health Record Software for Neuroendocrine Tumors: Patient-Centered Design Approach.JMIR human factors · 2025Article
- Congenital Hyperinsulinism India Association: An Approach to Address the Challenges and Opportunities of a Rare Disease.Medical sciences (Basel, Switzerland) · 2025Review
- Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry.Journal of autism and developmental disorders · 2025Article
10 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
5 authors.
Funding
Abstract
Globally, an estimated 350 million people are affected by a rare disease diagnosis. Knowledge limitations persist for the majority of rare conditions due to systemic and structural challenges in healthcare and research. Disease-specific patient populations are often small and geographically dispersed; funding support for research is restricted; and diagnostic delays are common due to disease complexities, limited medical training for practitioners, and evolving foundational knowledge related to disease characterization. Patient registries can be effective, convenient, and cost-efficient tools to support documentation of the natural history of a disease, centering patients as research partners in the process while uniting rare communities around a common initiative. Current global trends towards innovative and patient-centered healthcare are enabling patient registries to increasingly emerge as valuable tools for use within rare disease research and drug development. This article describes the value of and rationale for establishing rare disease patient registries and the considerations and challenges that stakeholders, such as researchers, industry, health care providers, and patient community organizations, may encounter.
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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.