ArticleJournal of community genetics2021
Rare disease care pathways in the EU: from odysseys and labyrinths towards highways.
Article in Journal of community genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 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
34 citing papers in PubMed.
- Parents' experiences of diagnosis and specialist care of children's rare birthmarks.British journal of health psychology · 2026Article
- [Rare diseases: a concept for a structured diagnostic pathway].Innere Medizin (Heidelberg, Germany) · 2026Review
- 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
- Parents' experiences of condition management in children born with esophageal atresia-tracheoesophageal fistula during their early childhood.Orphanet journal of rare diseases · 2026Article
- Patient journey with Charcot-Marie-Tooth Disease - A German patient survey study.Orphanet journal of rare diseases · 2026Article
- European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.Frontiers in public health · 2026Article
- Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultations.Orphanet journal of rare diseases · 2025Review
- Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence.Orphanet journal of rare diseases · 2025Article
- The organizational dimension in rare and complex diseases care management: an application of RarERN PathBMC health services research · 2025Article
- Nursing's Role in Advancing Care for Rare Genetic Diseases.The Nursing clinics of North America · 2025Review
- Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.Orphanet journal of rare diseases · 2024Review
- Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome.BMC pediatrics · 2024Article
- Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.Orphanet journal of rare diseases · 2024Article
- Rare diseases: still on the fringes of universal health coverage in Europe.The Lancet regional health. Europe · 2024Review
- Facioscapulohumeral Muscular Dystrophy European Patient Survey: Assessing Patient Reported Disease Burden and Preferences in Clinical Trial Participation.Journal of neuromuscular diseases · 2024Article
- Living with a rare disease - experiences and needs in pediatric patients and their parents.Orphanet journal of rare diseases · 2023Article
- [Healthcare for people with rare diseases: recommendations for successful intersectoral collaboration].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2023Article
- Impact of the COVID-19 pandemic on health care and daily life of patients with rare diseases from the perspective of patient organizations - a qualitative interview study.Orphanet journal of rare diseases · 2023Article
- The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time.International journal of environmental research and public health · 2023Article
- Editorial: Equality, diversity and inclusive research for diverse rare disease communities.Frontiers in psychology · 2023Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Care pathways (CPW) are used worldwide to structure care processes within the patient-centered care concept. Rare diseases (RD), defined as those affecting less than 5 persons per 10,000 and including up to 10,000 different diseases, present unique challenges to CPW development due to their rarity and a large number of disease entities, chronic and frequently disabling nature, heterogeneous manifestation, multisystem involvement, and complexity in diagnostics and treatment. However, failure to develop RD CPWs eventually leads to long diagnostic odysseys, limited and unequal access to RD treatments, and a huge burden of complex care coordination that lies on the shoulders of patients and their families, imposing many personal, professional and social life difficulties, and diminishing their quality of life. In the development of RD CPW, there is a need to ensure smooth horizontal and vertical care integration, multiple transitions, and long-term care coordination across many geographically distant care providers and to find a fine balance between centralized expertise-based, complex, highly specialized services and possibilities for local care provision, patient empowerment and self-management, and digital healthcare. Established in 2017, European Reference Networks may have a high added value through an increase in accessibility and quality of services, economies of scale, scope and speed in the development of lacking evidence-based, educational and other resources for RD CPW, and speeding up innovation development and translation into RD CPW. However, their full benefits may only be reaped through a pan-European collaboration, universal acceptance of common European values and open-mindedness for sometimes disruptive innovation in the provision of healthcare across all Member States of the European Union.
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.