ReviewOrphanet journal of rare diseases2025
Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultations.
Review in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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
4 citing papers in PubMed.
- Exploring global access to healthcare and utilisation for neurocutaneous syndromes: a scoping review protocol.BMJ open · 2026Article
- Five-year Incidence Trends and the Status of Major Rare Diseases in 2023 in the 「Annual Report on the Rare Disease Patients in Korea」.Public health weekly report · 2026Article
- "We are ambassadors, we are advocates": rare disease patient advocacy groups as knowledge brokers across health and social systems-a qualitative study from Poland.Frontiers in public health · 2026Article
- Addressing unmet needs in rare diseases: A patient-centred vision through INFORM-RD.Therapeutic advances in rare diseaseArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
backgroundRare diseases affect small populations but present unique challenges in access to healthcare and social support. The needs of patients and their caregivers extend beyond medical treatments, impacting various aspects of their lives. This study provides a narrative overview of these diverse needs experienced by patients and caregivers.
methodsA rapid literature review was conducted in PubMed and Embase, including studies assessing needs in rare diseases. Following Cochrane guidelines, two researchers screened 1.419 articles (74%) double-blinded, followed by a single researcher screening the remaining 509 articles (26%). Two researchers collaboratively extracted data into an extraction table. To validate and complement these findings, two stakeholder consultations were held with representatives from patient organisations, healthcare providers, the pharmaceutical industry, and policymakers.
resultsA total of 272 articles were included in the review, and respectively 25 and 33 participants participated in the consultations. The identified needs were categorized into two levels: (i) patient needs, and (ii) caregiver needs, along with one overarching transversal need: (iii) information needs. Patient needs spanned health, healthcare, and social dimensions. Psychological, mental, and emotional health were frequently highlighted, but also autonomy emerged as a significant need. Healthcare needs included gaps in timely and accurate diagnoses, underscoring the need for more awareness among healthcare providers and appropriate diagnostic tools. Coordinated multidisciplinary care and accessibility to care and treatments were also identified as essential, yet lacking. Socially, patients experienced unmet needs in support networks, workplace inclusion, education, and financial stability. Caregivers' needs were related to physical and mental health, social connection, and financial support. Information needs, affecting both levels and even extending to healthcare providers, underscored the demand for more comprehensive, accessible information on rare diseases, treatment options, healthcare services, and available social support.
conclusionThis study underscores the complex needs of persons living with rare diseases and their caregivers, advocating for a holistic approach in healthcare policy. Beyond medical interventions, addressing timely diagnosis, coordinated care, and psychological support are essential. Policymakers must consider these multifaceted needs to enhance patient outcomes and foster an inclusive, patient-centred healthcare framework.
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.