ReviewInternational journal of environmental research and public health2023
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.
Review in International journal of environmental research and public health, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 100 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
100 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Balancing benefits and burdens: a systematic review on ethical and social dimensions of gene and cell therapies for hereditary blood diseases.BMC medical ethics · 2025Pooled it
- Global insight into rare disease and orphan drug definitions: a systematic literature review.BMJ open · 2025Pooled it
- Smartphone-Based Proactive Self-Screening for Ocular Surface Malignancies: A Nonrandomized Clinical Trial.JAMA ophthalmology · 2026Trial
- Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications.Clinical case reports · 2026Article
- Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.Journal of community genetics · 2026Article
- Decoding Genetic Disease Through the Skin: Lessons From the UDN.International journal of dermatology · 2026Article
- Management of patients with rare diseases in the Middle East: challenges & opportunities - insights from the Rare Advocacy Council.Orphanet journal of rare diseases · 2026Article
- Scoping review protocol of interventions for widening access to healthcare services in people living with rare diseases in Africa.BMJ open · 2026Article
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- The rare disease tree: adolescent voices, family narratives, and health professionals' views in Greece.European journal of pediatrics · 2026Article
- 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
- Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review.JMIR medical education · 2026Article
- The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysis.Orphanet journal of rare diseases · 2026Article
- Comparative study on the efficacy of large language models (LLMs) in health management for patients with urological and andrological diseases: a multidimensional quality evaluation and applicability analysis.World journal of urology · 2026Article
- Awareness and knowledge gaps about pediatric rare disease among anesthesia practitioners in China: a survey-based study.BMC pediatrics · 2026Article
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- Artificial Intelligence, Connected Care, and Enabling Digital Health Technologies in Rare Diseases With a Focus on Lysosomal Storage Disorders: Scoping Review.Journal of medical Internet research · 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
- Optimizing regional rare disease management systems within China's policy framework: practical insights from the shantou experience.Orphanet journal of rare diseases · 2026Review
- Aging and rare diseases: from epidemiology to a call to action.European geriatric medicine · 2026Article
40 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
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This document provides a comprehensive summary of evidence on the current situation of rare diseases (RDs) globally and regionally, including conditions, practices, policies, and regulations, as well as the challenges and barriers faced by RD patients, their families, and caregivers. The document builds on a review of academic literature and policies and a process of validation and feedback by a group of seven experts from across the globe. Panelists were selected based on their academic merit, expertise, and knowledge regarding the RD environment. The document is divided into five main sections: (1) methodology and objective; (2) background and context; (3) overview of the current situation and key challenges related to RDs covering six dimensions: burden of disease, patient journey, social impact, disease management, RD-related policies, and research and development; (4) recommendations; and (5) conclusions. The recommendations are derived from the discussion undertaken by the experts on the findings of this review and provide a set of actionable solutions to the challenges and barriers to improving access to RD diagnosis and treatment around the world. The recommendations can support critical decision-making, guiding efforts by a broad range of RDs stakeholders, including governments, international organizations, manufacturers, researchers, and patient advocacy groups.
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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.