The economic and health impact of rare diseases: A meta-analysis

Sequeira, Ana Rita; Mentzakis, Emmanouil; Archangelidi, Olga; Paolucci, Francesco

doi:10.1016/j.hlpt.2021.02.002

Cited by 16 publications

(15 citation statements)

References 50 publications

(75 reference statements)

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“…Likewise, this type of instruments to quantify the quality of life of patients with XLH are gaining more and more importance in recent years, so they should be valued accordingly [18] for this type of research. Moreover, in a recent meta-analysis of the health impact of rare diseases, the lowest quality of life across EQ-5D scores, VAS scores and Barthel index corresponded to patients with musculoskeletal diseases [39].…”

Section: Discussionmentioning

confidence: 98%

Health-related Quality of Life and Direct Healthcare Costs of X-linked Hypophosphatemia in Spain

Yanes

Díaz-Curiel

Peris

et al. 2022

Preprint

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BackgroundThe purpose of this study is to analyze the health-related quality of life (HRQoL) of pediatric and adult patients with X-linked hypophosphatemia (XLH) treated with conventional therapy, as well as to assess the direct healthcare costs of the disease.We used several versions of the EuroQol-5 dimensions (EQ-5D) instrument according to the age of patients with XLH. Then we compared the HRQoL of patients to that of general Spanish population.We estimated direct healthcare costs by means of expert knowledge, consultation with hospital accounting departments, public databases and literature review.Results Children with XLH (n = 21) had moderate problems in walking about (61.9%), washing or dressing themselves (9.52%), and performing their usual activities (33.33%). They also felt moderate pain or discomfort (61.9%) and were moderately anxious or depressed (23.81%).Adults with XLH (n = 29) had lower HRQoL, with problems in walking (93%, with 3.45% unable to walk independently), some level of pain (86%, with 3.45% experiencing extreme pain), problems with their usual activities (80%) and self-care (>50%), and reported symptoms of anxiety and/or depression (65%). There were important differences with the general Spanish population.Regarding costs, XLH was associated with important direct healthcare costs to the national healthcare system, accounting for more than 5 million euros per year. However, the socioeconomic cost of XLH is considerably higher than that.ConclusionsXLH impacts negatively on physical functioning and HRQoL of patients, which increases both direct and indirect costs associated with XLH. In Spanish patients with XLH, the HRQoL was reduced despite conventional treatment and associated healthcare costs were high, clearly indicating the need to improve the therapeutic approach of this disorder.

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Section: Discussionmentioning

confidence: 98%

Health-related Quality of Life and Direct Healthcare Costs of X-linked Hypophosphatemia in Spain

Yanes

Díaz-Curiel

Peris

et al. 2022

Preprint

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“…In Europe, this could be explained by the selection of 10 diseases included in the BURQoL-RD project ( López-Bastida et al, 2016a ), which used a Delphi approach combined with a Caroll Diagram to select a representative set of rare diseases based on three criteria: prevalence, availability of effective treatment and need for care. The availability of COI studies being positively correlated to the existence of a treatment ( Armeni et al, 2021 ) and knowing that 95% of rare diseases currently do not have a treatment available ( Sequeira et al, 2021 ), it could be argued that a vast majority of conditions are thus left outside the scope of COI and that there is a need to go beyond the existence of a treatment to conduct COI studies to illustrate the true impact of rare diseases. The paucity of available treatments further emphasises the importance of adopting a holistic approach when investigating the impact of rare diseases to avoid leaving out of scope conditions for which there are no medical options but for which daily impacts remain high.…”

Section: Discussionmentioning

confidence: 99%

“…Rare diseases included in the scope of this paper were selected regardless of their severity or amount of data available on these diseases. The criteria for inclusion of conditions in the scope of this review was the European prevalence threshold of less than 1 person in 2,000 ( Sequeira et al, 2021 ). Sources were excluded from the selection when a language other than English or French was used.…”

Section: Methodsmentioning

confidence: 99%

“…Rare diseases are a group of an estimated 6,000 to 9,000 known severe, chronic, degenerative, and often life-threatening conditions defined as diseases affecting no more than 1 in 2,000 people in Europe ( Sequeira et al, 2021 ). Although each of these diseases affects a small number of people, it is estimated that approximately 30 million individuals are living with a rare disease in Europe, the vast majority of them being of genetic origin and typically associated with reduced life expectancy and loss of quality of life, with symptoms ranging from physical to psychological impacts seriously compromising day-to-day activities, autonomy and well-being ( Uhlenbusch et al, 2019a ).…”

Section: Introductionmentioning

confidence: 99%

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Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review

2022

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Introduction: Rare diseases (RDs) are a severe, chronic, degenerative and often life-threatening group of conditions affecting more than 30 million people in Europe. Their impact is often underreported and ranges from psychological and physical symptoms seriously compromising quality of life. There is then a need to consolidate knowledge on the economic, social, and quality of life impacts of rare diseases.Methods: This scoping review is the result of 9 qualitative interviews with experts and a literature search on Cost-of-Illness (COI) studies and quality of life (QoL) studies following the PRISMA methodology. Grey literature was also included to complement findings. Results. 63 COI studies were retrieved, covering 42 diseases and a vast majority of them using a prevalence-based approach (94%). All studies included medical costs, while 60% included non-medical costs, 68% productivity losses and 43% informal care costs. 56 studies on QoL were retrieved, mostly from Europe, with 30 different measurement tools. Grey literature included surveys from the pharmaceutical industry and patient organisations.Discussion: The majority of studies evaluating the impact of RDs on the individual and society use the COI approach, mostly from a societal perspective. Studies often vary in scope, making them difficult to consolidate or compare results. While medical costs and productivity losses are consistently included, QoL aspects are rarely considered in COI and are usually measured through generic tools.Conclusion: A comprehensive study on impact of rare disease across countries in Europe is lacking. Existing studies are heterogeneous in their scope and methodology and often lack a holistic picture of the impact of rare. Consensus on standards and methodology across countries and diseases is then needed. Studies that consider a holistic approach are often conducted by pharmaceutical companies and patient organisations exploring a specific disease area but are not necessarily visible in the literature and could benefit from the sharing of standards and best practices.

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“…With an annual rate of 6%, the global orphan drugs market has grown dramatically in recent years, from $ 54.5 million in 2005 to $ 81.8 million in 2011 (9). Although traditional approach for the assessment of cost-effectiveness cannot be applied in the case of orphan drugs, due to the principle of equality or non-discrimination (10), there is a lot of controversy and mistrust regarding the high prices of orphan drugs (9). This concern is particularly pronounced in neurology, since at least one fifth of all RDs is composed of neurological conditions (11); for their treatment more than 200 orphan drugs have been approved so far (12).…”

Section: Introductionmentioning

confidence: 99%

Rare Neurological Diseases: an Overreview of Pathophysiology, Epidemiology, Clinical Features and Pharmacoeconomic Considerations in the Treating

Gutić

Milidrag

Cikotic³

et al. 2021

Serbian Journal of Experimental and Clinical Research

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Rare diseases (RD) are serious chronic diseases affecting small number of people compared to the general population. There are between 6000 and 8000 RDs, which affect about 400 million people worldwide. Drugs used for causal treatment of RDs are called orphan drugs. RDs bear great clinical and economic burden for patients, their families, healthcare systems and society overall. There are at least two reasons for the high cost of treatment of RDs. First, there is no causal therapy for majority of RDs, so exacerbations, complications, and hospitalizations in those patients are common. The second reason is high price of available orphan drugs, which are not cost-effective when traditional pharmacoeconomic evaluation is employed. The pharmacoeconomic aspect of the treatment of RDs is especially important in the field of neurology, since at least one fifth of all RDs is composed of neurological conditions. The aim of this paper was to provide a concise overview of the pathophysiological, epidemiological and clinical characteristics of some of the most important and common rare neurological diseases, with special reference to their impact on society and economy.

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The economic and health impact of rare diseases: A meta-analysis

Cited by 16 publications

References 50 publications

Health-related Quality of Life and Direct Healthcare Costs of X-linked Hypophosphatemia in Spain

Health-related Quality of Life and Direct Healthcare Costs of X-linked Hypophosphatemia in Spain

Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review

Rare Neurological Diseases: an Overreview of Pathophysiology, Epidemiology, Clinical Features and Pharmacoeconomic Considerations in the Treating

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