The added value of centres of expertise for rare disease patients in Europe

Kole, Anna; Cam, Yann Le

doi:10.1186/1750-1172-5-s1-o4

Cited by 16 publications

(40 citation statements)

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“…Although much success has been observed in the establishment of RD CoEs in several MS, several challenges for future national strategies on CoE remain (Kole & le Cam, 2010). Rarity of diseases can create problems including: difficulties in obtaining timely, accurate diagnoses; lack of experienced healthcare providers; useful, reliable and timely information may be hard to find; research activities are less common; developing new medicines may not be economically feasible; treatments are sometimes very expensive; and in developing countries, the problems are compounded by other resource limitations (Forman et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

“…It is essential to provide integrated services across the health economy for seamless care for RD patients, although it is unclear how it should be commissioned and funded and is likely to vary across MS. In addition to providing an added value to the quality of local healthcare services, CoEs are also key facilitators for research on rare diseases, and support the optimisation of healthcare spending in the current economic climate (Kole & le Cam, 2010).…”

Section: Discussionmentioning

confidence: 99%

“…Despite a significant EU population being affected by RDs healthcare systems in MS are not set up adequately to provide care for RD patients. In many European Union (EU) Member States (MS), RD patients are subject to marginalisation in classic healthcare systems designed for non-rare diseases (Kole & le Cam, 2010). As a result, they do not experience equal access to timely, high quality health services they deserve (Kole & le Cam, 2010).…”

Section: Introductionmentioning

confidence: 99%

“…In many European Union (EU) Member States (MS), RD patients are subject to marginalisation in classic healthcare systems designed for non-rare diseases (Kole & le Cam, 2010). As a result, they do not experience equal access to timely, high quality health services they deserve (Kole & le Cam, 2010). The restructuring of healthcare systems to better reflect the values of equity and solidarity amongst RD patients, professionals, and policy makers across Europe needs to be accomplished.…”

Section: Introductionmentioning

confidence: 99%

“…The recommendations concentrate on supporting and strengthening EU countries' plans and strategies for responding to rare diseases, improving recognition and visibility of rare diseases, encouraging more research into rare diseases and forging links between medical centres. No official definition of a RD CoE exists, however ideally they are medical centres that bring together a group of multidisciplinary, specialised competencies and ensure timely diagnosis and appropriate follow-up care by aiming to improve the continuity and coordination of care through the implementation of healthcare pathways and research (Kole & le Cam, 2010). A ERN is considered to be a physical or virtual networking of national RD CoEs to exchange knowledge and expertise at a European level.…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Policy recommendations for rare disease centres of expertise

Syed

Camp

Mischorr-Boch

et al. 2015

Evaluation and Program Planning

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Policy recommendations for rare disease centres of expertise

Syed

Camp

Mischorr-Boch

et al. 2015

Evaluation and Program Planning

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Assessment of the Clinical Benefit of Imaging in Children With Unilateral Sensorineural Hearing Loss

Ropers

Pham

Kant

et al. 2019

JAMA Otolaryngol Head Neck Surg

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Imaging used to determine the cause of unilateral sensorineural hearing loss (USNHL) in children is often justified by the high likelihood of detecting abnormalities, which implies that these abnormalities are associated with hearing loss and that imaging has a positive contribution to patient outcome or well-being by providing information on the prognosis, hereditary factors, or cause of hearing loss. OBJECTIVES To evaluate the diagnostic yield of computed tomography (CT) and magnetic resonance imaging (MRI) in children with isolated unexplained USNHL and investigate the clinical relevance of these findings. EVIDENCE REVIEW Cochrane Library, Embase, PubMed, and Web of Science databases were searched for articles published from 1978 to 2017 on studies of children with USNHL who underwent CT and/or MRI of the temporal bone. Two authors (F.G.R. and E.N.B.P.) independently extracted information on population characteristics, imaging modality, and the prevalence of abnormalities and assessed the studies for risk of bias. Eligibility criteria included studies with 20 or more patients with USNHL who had CT and/or MRI scans, a population younger than 18 years, and those published in English. MAIN OUTCOMES AND MEASURES The pooled prevalence with 95% CI of inner ear abnormalities grouped according to finding and imaging modality. FINDINGS Of 1562 studies, 18 were included with a total of 1504 participants included in the analysis. Fifteen studies were consecutive case studies and 3 were retrospective cohort studies. The pooled diagnostic yield for pathophysiologic relevant findings in patients with unexplained USNHL was 37% for CT (95% CI, 25%-48%) and 35% for MRI (95% CI, 22%-49%). Cochleovestibular abnormalities were found with a pooled frequency of 19% for CT (95% CI, 14%-25%) and 16% for MRI (95% CI, 7%-25%). Cochlear nerve deficiency and associated cochlear aperture stenosis had a pooled frequency of 16% for MRI (95% CI, 3%-29%) and 44% for CT (95% CI, 36%-53%), respectively. Enlarged vestibular aqueduct (EVA) was detected with a pooled frequency of 7% for CT and 12% for MRI in children with USNHL. CONCLUSIONS AND RELEVANCE Imaging provided insight into the cause of hearing loss in a pooled frequency of about 35% to 37% in children with isolated unexplained USNHL. However, none of these findings had therapeutic consequences, and imaging provided information on prognosis and hereditary factors only in a small proportion of children, namely those with EVA. Thus, there is currently no convincing evidence supporting a strong recommendation for imaging in children who present with USNHL. The advantages of imaging should be carefully balanced against the drawbacks during shared decision making.

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Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study

Awada,

Holcik

2023

JIMD Reports

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Canadian patients and families affected by rare genetic lysosomal storage diseases (LSDs) suffer from numerous challenges related to disease management, including issues navigating healthcare and social support services, access to orphan drugs, and intensive treatment regimens. These challenges significantly impact people's quality of life, yet they remain obscure and have not been the subject of comprehensive analysis. Thus, we conducted qualitative interviews with Canadian patients and caregivers living with LSDs to advance current understanding of their experiences with rare‐disease (RD) management and health systems navigation to support patient‐focused RD policies and programs and improve the health outcomes of the 2.8 million Canadians affected by RDs. This study employed a qualitative descriptive research design with inductive thematic analysis. The study data were collected using semi‐structured interviews. Thirty Canadian participants were interviewed in person or remotely via video chat to allow for an interactive discussion and the acquisition of rich data related to the insights and perceptions of people with LSDs. Between April and November 2019, 30 participants (16 patients and 14 caregivers) with experiences with nine types of LSDs and living in seven Canadian provinces were interviewed. Five themes were identified using comprehensive thematic analysis. These themes were the complexity of the diagnosis process; navigation of healthcare systems; psychological, social, and financial implications of LSDs; access to social support services; and access to orphan drugs. Our findings reveal that patients' access to appropriate healthcare and social services is subject to significant delays and lacks care coordination. The process of accessing orphan drugs in Canada is extremely complex and convoluted. The study results also illuminate experiences of RD stigma when navigating healthcare and social support systems. Our study offers new insights into the complex nature and extensive needs of Canadians with LSDs that are currently unmet. The management of these complex diseases requires holistic patient care and support beyond having access to orphan drugs. Our findings highlight the importance of bridging existing gaps between health and social care for RD patients. Policymakers should utilize these results when developing the forthcoming national RD strategy.

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The added value of centres of expertise for rare disease patients in Europe

Cited by 16 publications

References 0 publications

Policy recommendations for rare disease centres of expertise

Policy recommendations for rare disease centres of expertise

Assessment of the Clinical Benefit of Imaging in Children With Unilateral Sensorineural Hearing Loss

Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study

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