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Objective
To estimate the social/economic costs of fragile X syndrome (FXS) in Europe and to assess the health-related quality of life (HRQOL) of patients and caregivers.
Methods
A cross-sectional study was conducted in a sample of European countries. Patients were recruited through patients’ associations. Data on their resource use and absence fr...
Citations
... In these families, the occurrence of ID, a neurocognitive disorder characterized by significant limitations in cognitive and adaptive functioning appearing and diagnosed before a person is aged 18 years old, is presumed to be caused by the same etiological factors [1]. The severity of familial ID is classified according to the intelligence quotient (IQ) of the affected person, as follows: mild (IQ 50-69), moderate (35)(36)(37)(38)(39)(40)(41)(42)(43)(44)(45)(46)(47)(48)(49), severe (20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34), and profound (<20) [2]. The global prevalence of ID is approximately 1%, with an estimated 20-50% of all ID cases of being of genetic etiology, and 450 identified genes are known to cause ID [3]. ...
... There are few studies reporting the cost of familial ID or other genetic forms of ID. In one study on the cost of FXS, the total average annual cost of people with FXS from five different European countries ranged from EUR 4951 to EUR 58,862 per person in 2012 [36]. However, these estimates were derived solely from survey responses, with three of the eight countries excluded from the analysis because their sample size consisted of less than 10 participants [36]. ...
... In one study on the cost of FXS, the total average annual cost of people with FXS from five different European countries ranged from EUR 4951 to EUR 58,862 per person in 2012 [36]. However, these estimates were derived solely from survey responses, with three of the eight countries excluded from the analysis because their sample size consisted of less than 10 participants [36]. Nonetheless, like our study, the findings suggest that societal costs outweigh healthcare costs, prompting a call for policies to incorporate a reduction in the consequences of FXS for those with the condition and their families [36]. ...
Most of the studies on the cost of intellectual disability are limited to a healthcare perspective or cohorts composed of individuals where the etiology of the condition is a mixture of genetic and non-genetic factors. When used in policy development, these can impact the decisions made on the optimal allocation of resources. In our study, we have developed a static microsimulation model to estimate the healthcare, societal, and lifetime cost of individuals with familial intellectual disability, an inheritable form of the condition, to families and government. The results from our modeling show that the societal costs outweighed the health costs (approximately 89.2% and 10.8%, respectively). The lifetime cost of familial intellectual disability is approximately AUD 7 million per person and AUD 10.8 million per household. The lifetime costs to families are second to those of the Australian Commonwealth government (AUD 4.2 million and AUD 9.3 million per household, respectively). These findings suggest that familial intellectual disability is a very expensive condition, representing a significant cost to families and government. Understanding the drivers of familial intellectual disability, especially societal, can assist us in the development of policies aimed at improving health outcomes and greater access to social care for affected individuals and their families.
... Fragile X syndrome (FXS) is characterized by intellectual disability, cognitive and behavioural impairments, and autism spectrum disorder. A 2016 study by Chevruel et al.(n = 241), that assessed the HRQoL of patients with FXS, reported a mean EQ-5D utility score ranging between 0.52 and 0.73 and a mean EQ-5D VAS score ranging between 66.5 and 90.0 in adult FXS patients [25]. Similarly, a few other studies have also reported EQ-5D and VAS scores in other rare genetic disorders (Table 5). ...
... Additionally, given that individuals who were non-ambulatory and those with poorly controlled seizures, and certain concomitant medication were excluded from the STARS clinical trial, the results may not be generalizable to real-world AS population and may not capture the totality of the impact of AS in the real-world. EQ-5D is a generic preference-based measure of health status and while EQ-5D and its proxy version has been used in patients with neurodevelopmental disorder and other rare genetic disorders [25,32]. It has not been specifically adapted for AS patients and is likely not sensitive or specific enough to capture the true impact of the disease on patients' HRQoL, and the results need to be viewed in that context. ...
Purpose
The primary goal of this analysis is to describe the health-related quality of life (HRQoL), medical history, and medication use among adolescents and adults individuals with Angelman syndrome (AS).
Methods
The analysis uses baseline data collected during the STARS study, a double-blind placebo controlled trial of gaboxadol (OV101) in adolescents and adults with AS. The HRQoL was estimated using EuroQoL 5-Dimension 5-Level (EQ-5D) health questionnaire proxy 1 version, which was completed by the caregivers. EQ-5D consists of two parts, a 5-dimension descriptive and a visual analogue scale (VAS) component. The utility score derived from EQ-5D ranges from 0 to 1 (perfect health) and VAS ranges from 0 to 100 (perfect health).
Results
87 individuals with AS were included in the present analysis. The mean utility score was 0.44 ± 0.20 and VAS score was 84 ± 1.5. The EQ-5D data indicated that the self-care, mobility and daily activities were most impacted. All adolescents (100%) and most adults (93%) had at least moderate problems with self-care activities, such as washing or dressing themselves. More than half (55%) of the adolescents and adults had at least moderate issues with mobility and usual activities. Approximately, 30% of adolescents and adults had moderate to extreme problems with anxiety/depression. High baseline concomitant use of medications was observed across both age groups with an average of 5 medications being used per person.
Conclusion
This study highlights the impact of AS on HRQoL and medication utilization among adolescents and adults individuals with AS.
... As highlighted by a meta-analysis published in 2021 that identified 19 studies in literature, economic evidence from a wider societal perspective has been very limited, with majority of the evidence focusing on individual RDs (75). Almost all of the identified studies were conducted in European populations, with many of them collected as part of the "Social Economic Burden and Health-Related Quality of Life in Patients with Rare Diseases in Europe" (BURQOL-RD) project series, which estimated the costs of 10 relatively "common" RDs across eight jurisdictions in Europe (15,(83)(84)(85)(86)(87)(88)(89)(90)(91)(92). The results undoubtedly aided understanding on the patterns of resource use and areas that require prioritization, supporting appropriate healthcare planning for these 10 RDs. ...
... Secondly, in addressing the significant socio-economic burden and the lowered HRQoL of the RD population, the government and healthcare system should work together to provide affordable and accessible resources, thereby improving the HRQoL of patients and carers. Previous cost-of-illness studies highlighted the unique and complex challenges the RD population face, providing strong evidence that management of these challenges should be treated differently to other common disease (15,16,(77)(78)(79)(83)(84)(85)(86)(87)(88)(89)(90)(91)(92). With RD patients requiring services and care across multi-disciplines, patients often experience frustration in service fragmentation. ...
The genomics revolution over the past three decades has led to great strides in rare disease (RD) research, which presents a major shift in global policy landscape. While RDs are individually rare, there are common challenges and unmet medical and social needs experienced by the RD population globally. The various disabilities arising from RDs as well as diagnostic and treatment uncertainty were demonstrated to have detrimental influence on the health, psychosocial, and economic aspects of RD families. Despite the collective large number of patients and families affected by RDs internationally, the general lack of public awareness and expertise constraints have neglected and marginalized the RD population in health systems and in health- and social-care policies. The current Coronavirus Disease of 2019 (COVID-19) pandemic has exposed the long-standing and fundamental challenges of the RD population, and has reminded us of the critical need of addressing the systemic inequalities and widespread disparities across populations and jurisdictions. Owing to the commonality in goals between RD movements and universal health coverage targets, the United Nations (UN) has highlighted the importance of recognizing RDs in policies, and has recently adopted the UN Resolution to promote greater integration of RDs in the UN agenda, advancing UN's commitment in achieving the 2030 Sustainable Development Goals of “leav[ing] no one behind.” Governments have also started to launch Genome Projects in their respective jurisdictions, aiming to integrate genomic medicine into mainstream healthcare. In this paper, we review the challenges experienced by the RD population, the establishment and adoption of RD policies, and the state of evidence in addressing these challenges from a global perspective. The Hong Kong Genome Project was illustrated as a case study to highlight the role of Genome Projects in enhancing clinical application of genomic medicine for personalized medicine and in improving equity of access and return in global genomics. Through reviewing what has been achieved to date, this paper will provide future directions as RD emerges as a global public health priority, in hopes of moving a step toward a more equitable and inclusive community for the RD population in times of pandemics and beyond.
... 66 Studies in Europe have also found high health care and caregiver burden costs, with non-health care costs (e.g., informal care) being the main contributor. 67,68 Direct and indirect health care costs are higher for those with FXS and their families than those without FXS. 69,70 In a survey study of over 600 caregivers of individuals with FXS, 20% reported having difficulty accessing specialty services, and nearly 40% indicated that their child's primary care provider was not knowledgeable about FXS. ...
Objective:
The phenotypic impact of fragile X syndrome (FXS) has been well-documented since the discovery of the fragile X messenger ribonucleoprotein 1 gene 30 years ago. However, gaps remain in clinical and public health research. The purpose of this literature review was to determine the extent to which these gaps have been addressed and identify targeted areas of future research.
Methods:
We conducted an electronic search of several scientific databases using a variety of key words. The search focused on 5 areas identified as research gaps by an earlier review: (1) diagnosis, (2) phenotypic presentation, (3) familial impact, (4) interventions and treatments, and (5) life span perspectives. Inclusion criteria included publication between 2014 and 2020, focus on human subjects, and publication in English. A total of 480 articles were identified, 365 were reviewed, and 112 are summarized in this review.
Results:
Results are organized into the following categories: (1) FXS phenotype and subtypes (FXS subtypes, medical profile, cognitive/developmental profile, social and behavioral profile); (2) needs of adults; (3) public health needs (clinical diagnosis and newborn screening, health care needs, and access); (4) treatment (treatment priorities, pharmacological treatments, and behavioral and educational interventions); and (5) families (economic burden and mother-child relationship).
Conclusion:
Despite the progress in many areas of FXS research, work remains to address gaps in clinical and public health knowledge. We pose 3 main areas of focused research, including early detection and diagnosis, determinants of health, and development and implementation of targeted interventions.
... Lastly, a survey commissioned by Shire Human Genetic Therapies (Hendriksz, 2013) also investigated the costs of living with a rare disease alongside intangible costs through the use of a survey to patients and caregivers, physicians, tough leaders (policymakers, researchers, advocates) and payers. The 58 retrieved peer-reviewed articles (Pasculli et al., 2004;López-Bastida et al., 2008;López-Bastida et al., 2009;Winter et al., 2010;Mirabel et al., 2011;Chhina et al., 2012;Calvert et al., 2013;Johansen et al., 2013;Kamusheva et al., 2013;Raluy-Callado et al., 2013;Johnson et al., 2014;Kodra et al., 2014;López Bastida et al., 2014;Poon et al., 2014;Bosch et al., 2015;Chevreul et al., 2015;Guffon et al., 2015;Verkaeren et al., 2015;Cavazza et al., 2016a;Cavazza et al., 2016b;Chevreul et al., 2016a;Chevreul et al., 2016b;Angelis et al., 2016;Iskrov et al., 2016;Landfeldt et al., 2016;López-Bastida et al., 2016a;López-Bastida et al., 2016b;Kuhlmann et al., 2016;Péntek et al., 2016;Zhang et al., 2016;Bogart and Irvin, 2017;Haghpanah et al., 2017;López-Bastida et al., 2017;van Walsem et al., 2017;Liu et al., 2018;Underbjerg et al., 2018;Wiemann et al., 2018;Bozovic et al., 2019;Hanisch et al., 2019a;Hanisch et al., 2019b;Lauby et al., 2019;Matos et al., 2019;Witt et al., 2019;Andersen et al., 2020;Applebaum et al., 2020;Berrocoso et al., 2020;Boettcher et al., 2020;Gao et al., 2020;Hanisch et al., 2020a;Hanisch et al., 2020b;Jansen et al., 2020;Kodra et al., 2020;Weidema et al., 2020;Chen et al., 2021;Giusti et al., 2021;Lee et al., 2021;Xu et al., 2021) (see Table 2) addressing the topic of QoL in rare disease covered 69 conditions, a few of them having included more than one pathology in their scope. The vast majority of diseases (51) were however covered by studies investigating only one disease. ...
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.
... 4 Long diagnostic odysseys and treatment uncertainty detrimentally influences economic and psychosocial aspects of patients' lives. 1,[5][6][7][8][9][10][11][12][13][14][15] Impacts on caregivers, particularly parents of pediatric patients with RD, are also significant. Lifelong caring, high dependency of patient, and economic strain all decrease the wellbeing of patients' caregivers. ...
Objectives
This study aimed to establish a normative profile of health-related quality of life (HRQOL) of the rare disease (RD) population in Hong Kong (HK) and identify potential predictors.
Methods
Between March 2020 and October 2020, patients with RD and caregivers were recruited through Rare Disease Hong Kong, the largest RD patient group alliance in HK. HRQOL was derived using the EQ-5D 3-Level with reference to the established HK value set. Utility scores were stratified according to demographics and disease-related information. Multiple linear regression was performed to explore the associations between patient characteristics and HRQOL.
Results
A total of 286 patients, covering 107 unique RDs, reported a mean utility score of 0.53 (SD 0.36). Thirty patients (10.5%) reported negative utility scores, indicating worse-than-death health states. More problems were recorded in the “usual activities” and “self-care” dimensions. Univariate analyses revealed that neurologic diseases, high out-of-pocket expenditure, home modification, and living in public housing or subdivided flats/units were significantly associated with lower HRQOL. A total of 99 caregivers reported a mean utility score of 0.78 (SD 0.17), which was significantly associated with the utility score of patients they took care of (r = 0.32; P = .001).
Conclusions
The normative profile of the RD population was established, which revealed lower HRQOL in the RD population than other chronic disease groups and general population in HK. Findings were corroborated by evidence from other cohorts using EQ-5D, combined as part of a meta-analysis. Identifying predictors highlight areas that should be prioritized to improve HRQOL of RD population through clinical and psychosocial dimensions.
... Several studies included in this review detail how caring for someone with DEE can affect aspects of caregiver HRQL, but the evidence is mixed [10][11][12][13][14][15][16]. The evidence suggests that mental health is particularly affected. ...
... A small number of studies assessed caregiver burden in addition to HRQL. For example, caregivers in one study in FXS reported mild-to-moderate caregiver burden when measured on a standardized scale (Zarit Burden Interview, ZBI) [11]. ...
Objectives
Developmental and epileptic encephalopathies (DEEs) are rare neurodevelopmental disorders characterized by early-onset seizures and numerous comorbidities. Due to the complex requirements for the care of a child with a DEE, these disorders would be expected to impact health-related quality of life (HRQL) for caregivers as well as for patients. The objective of this literature review was to describe the impact of DEEs on the HRQL, emotional wellbeing, and usual activities (social, work, relationships, etc.) of caregivers, including the wider impact on other family members such as siblings.
Methods
A literature search was conducted in May 2020 using MEDLINE® and Embase® databases. Quantitative and qualitative studies were identified using search terms related to family, disease type (including >20 specific DEEs), and quality of life/methodology. Each study was assessed for relevance and was graded using customized critical appraisal criteria. Findings from studies that were given the highest quality ratings were summarized and used to develop a conceptual model to illustrate the complex impact of DEEs on caregiver HRQL.
Results
Sixty-seven relevant studies were identified, of which 39 (27 quantitative, 12 qualitative) met the highest appraisal criteria. The studies recruited caregivers of patients with one of eight individual DEEs, or pediatric intractable or refractory epilepsy. Most studies reported negative impacts on HRQL and emotional wellbeing in caregivers. The wide-ranging impact of a DEE was highlighted by reports of negative effects on caregivers’ physical health, daily activities, relationships, social activities, leisure time, work, and productivity. Factors that influenced the perceived impact included demographic characteristics (e.g., child’s age, living arrangements, family income) and clinical factors (e.g., feeding or sleep difficulties, disease severity). Few studies evaluated the impact on siblings.
Conclusions
There is evidence that DEEs can impact HRQL and emotional wellbeing and can limit usual activities for the primary caregiver and their wider family. However, no research was identified regarding many individual DEEs, and only limited research assessed the impact on different family members with most studies focusing on mothers. Further research is required to understand the influence of certain factors such as the age of the patient, disease severity, and seizures on caregiver burden. Furthermore, the review highlighted the lack of appropriate measurement tools to assess caregiver HRQL in this population.
... In two economic evaluations, patient utilities were derived from unspecified published literature [55,56] and one study did not report patient utilities [54]. Only three economic evaluations reported caregiver utilities [58,60,61], which were derived from a study of caregiver utilities in Spain [71] or a comparison of health states with the Swedish general population [72]. ...
Background
Spinal muscular atrophy (SMA) is a rare, progressive neuromuscular disease that affects individuals with a broad age range. SMA is typically characterised by symmetrical muscle weakness but is also associated with cardiac defects, life-limiting impairments in respiratory function and bulbar function defects that affect swallowing and speech. Despite the advent of three innovative disease-modifying therapies (DMTs) for SMA, the cost of DMTs in addition to the costs of standard of care can be a barrier to treatment access for patients. Health Technology Assessment (HTA) decision makers evaluate the cost effectiveness of a new treatment before making a reimbursement decision.Objective
The primary objective was to conduct a systematic literature review (SLR) to identify the modelling approaches used in economic evaluations that assess current approved treatments in SMA, with a secondary objective to widen the scope and identify economic evaluations assessing other (non-SMA) neuromuscular disorders.Methods
An SLR was performed to identify available economic evaluations associated with any type of SMA (Type 1, 2, 3 and/or 4). Economic evaluations associated with other (non-SMA) neuromuscular disorders were identified but not further analysed. Electronic searches were conducted in Embase, MEDLINE, Evidence-Based Medicine Reviews and EconLit via the Ovid platform in August 2019, and were supplemented by searches of the grey literature (reference lists, conference proceedings, global HTA body websites and other relevant sources). Eligibility criteria were based on the population, interventions, comparators and outcomes (PICO) framework. Quality assessment of full publications was conducted with reference to a published checklist.ResultsNine publications covering eight unique studies met all eligibility criteria for inclusion in the SLR, including four conference abstracts, two peer-reviewed original research articles and three HTA submissions (conducted in Canada, the US and the UK). Evaluations considered patients with early infantile-onset (most likely to develop Type 1 or Type 2 SMA), later-onset SMA and both infantile- and later-onset SMA. Data for the identified economic models were collected from literature reviews and relatively short-term clinical trials. Several intent-to-treat clinical trial populations were used in the studies, which resulted in variation in cycle length and different outcome measures to determine clinical efficacy. The results of the quality assessment on the five full-text, peer-reviewed publications found that they generally provided clear descriptions of objectives, modelling methods and results. However, key decisions, such as choice of economic evaluation, model type and choice of variables for sensitivity analysis, were often not adequately justified.Conclusions
This SLR highlights the need for economic evaluations in SMA to better align in modelling approaches with respect to (i) consistency in model structure and use of motor function milestones as health states; (ii) consensus on measuring quality of life to estimate utilities; (iii) consistency in data collection by registries; and (iv) consensus on SMA-type classification and endpoints that determine intervention efficacy. Future economic evaluations should also incorporate the review group critiques of previous HTA submissions relating to data inputs and approaches to modelling and should include patient data reflective of the SMA population being modelled. Economic evaluations would also be improved with inclusion of long-term efficacy and safety data from clinical trials and valid patient and caregiver utility data.
... Of the syndromes included in this analysis AS was associated with the highest costs, with a mean annual cost of $AUD 96,988, while FXS was associated with the lowest costs per individual ($AUD 33,219). The estimate for FXS is somewhat lower than has been reported in previous literature (Chevreul et al., 2016) with the exception of a study in Hungary which estimated the incremental annual per person cost for FXS to be Euro 4951 (~ $AUD 8380) (Chevreul et al., 2016). However, a study from Sweden (Chevreul et al., 2016) estimated the incremental annual per person cost of FXS to be Euro 58,862 (~ $AUD 99,630), while another from the US estimated $USD 33,409 (~ $AUD 52,260) (Nazareth et al., 2016). ...
... Of the syndromes included in this analysis AS was associated with the highest costs, with a mean annual cost of $AUD 96,988, while FXS was associated with the lowest costs per individual ($AUD 33,219). The estimate for FXS is somewhat lower than has been reported in previous literature (Chevreul et al., 2016) with the exception of a study in Hungary which estimated the incremental annual per person cost for FXS to be Euro 4951 (~ $AUD 8380) (Chevreul et al., 2016). However, a study from Sweden (Chevreul et al., 2016) estimated the incremental annual per person cost of FXS to be Euro 58,862 (~ $AUD 99,630), while another from the US estimated $USD 33,409 (~ $AUD 52,260) (Nazareth et al., 2016). ...
... The estimate for FXS is somewhat lower than has been reported in previous literature (Chevreul et al., 2016) with the exception of a study in Hungary which estimated the incremental annual per person cost for FXS to be Euro 4951 (~ $AUD 8380) (Chevreul et al., 2016). However, a study from Sweden (Chevreul et al., 2016) estimated the incremental annual per person cost of FXS to be Euro 58,862 (~ $AUD 99,630), while another from the US estimated $USD 33,409 (~ $AUD 52,260) (Nazareth et al., 2016). Differences in estimates are likely due to availability and access to services within each country, the varying healthcare systems, and the aetiology of each cohort studied Content courtesy of Springer Nature, terms of use apply. ...
The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with clinical severity. Caregivers of 108 individuals with Prader-Willi, Angelman (AS), Chromosome 15q Duplication and fragile X (FXS) syndromes completed a modified Client Services Receipt Inventory and participants completed intellectual/developmental functioning and autism assessments. AS incurred the highest yearly costs per individual ($AUD96,994), while FXS had the lowest costs ($AUD33,221). Intellectual functioning negatively predicted total costs, after controlling for diagnosis. The effect of intellectual functioning on total costs for those with AS was significantly different to the other syndromes. The study highlights the significant costs associated with these syndromes, particularly AS, linked with severity of intellectual functioning.
... Amyotrophic lateral sclerosis (ALS) 1-9/100,000 8 [11,12,19,24,34,41,48,62] Haemophilia 1-9/100,000 7 [21,28,44,49,51,66,69] Duchenne muscular dystrophy 1-9/100,000 5 [34,54,55,60,61] Cystic fibrosis 1-9/100,000 4 [30,46,63,71] Chronic inflammatory demyelinating polyradiculoneuropathy 1-9/100,000 3 [13,42,43] Idiopathic pulmonary fibrosis 1-5/10,000 2 [68,72] Juvenile idiopathic arthritis (JIA) 1-9/100,000 2 [31,45] Prader-Willi syndrome 1-9/100,000 2 [37,56] Systemic sclerosis 1-5/10,000 2 [22,38] Tuberous sclerosis complex 1-5/10,000 2 [29,58] Achalasia (Idiopathic achalasia) 1-9/100,000 1 [47] Acromegaly 1-9/100,000 1 [35] Autosomal dominant polycystic kidney disease 1-5/10,000 1 [16] Becker muscular dystrophy 1-9/100,000 1 [54] Behçet's syndrome 1-9/100,000 1 [59] Common variable immunodeficiency 1-9/100,000 1 [53] Congenital hyperinsulinism 1-9/100,000 1 [15] Cushing disease 1-9/100,000 1 [33] Dermatomyositis 1-9/100,000 1 [32] Dravet syndrome 1-9/100,000 1 [64] Epidermolysis bullosa 1-9/100,000 1 [10] Fragile x syndrome 1-5/10,000 1 [70] Frontotemporal degeneration 1-5/10,000 1 [18] Guillain-Barré syndrome 1-9/100,000 1 [17] Hereditary angioedema 1-9/100,000 1 [65] Histiocytosis 1-9/100,000 1 [27] Lysosomal acid lipase deficiency, Cholesteryl ester storage disease type 1-9/100,000 1 [20] Mucopolysaccharidosis Depends on the type* 1 [50] Multifocal motor neuropathy 1-9/100,000 1 [42] Multiple system atrophy 1-9/100,000 1 [67] Myotonic dystrophy 1-9/100,000 1 [34] Narcolepsy-cataplexy syndrome 1-5/10,000 1 [26] Niemann-Pick disease type C 1-9/100,000 1 [25] Paraproteinaemic demyelinating neuropathy 1-9/100,000 1 [42] Pemphigus Depends on the type ** 1 [23] Phenylketonuria (PKU) 1-5/10,000 1 [14] Primary childhood glaucoma and secondary childhood glaucoma 1-9/100,000 1 [36] Progressive supranuclear palsy 1-9/100,000 1 [67] Pulmonary arterial hypertension 1-9/100,000 1 [57] Sarcoidosis 1-5/10,000 1 [52] Spinal muscular atrophy 1-9/100,000 1 [39] Spinocerebellar ataxias 1-9/100,000 1 [40] in reference centres or special units related to the disease [11,46,51,69] or used specific disease registries [22,54]. But an important number of studies used large databases such as health insurance claims databases [33], MEDI-CARE [72], or primary health care databases such as the Clinical Practice Research Datalink in the United Kingdom [29]. ...
Objective
The aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases.
Methods
We searched papers published in English in PubMed from January 2007 to December 2018. We selected cost-of-illness studies on rare diseases defined as those with prevalence lower than 5 per 10,000 cases. Studies were selected by one researcher and verified by a second researcher. Methodological characteristics were extracted to develop a narrative synthesis.
Results
We included 63 cost-of-illness studies on 42 rare diseases conducted in 25 countries, and 9 systematic reviews. Most studies (94%) adopted a prevalence-based estimation, where the predominant design was cross-sectional with a bottom-up approach. Only four studies adopted an incidence-based estimation. Most studies used questionnaires to patients or caregivers to collect resource utilisation data (67%) although an important number of studies used databases or registries as a source of data (48%). Costs of lost productivity, non-medical costs and informal care costs were included in 68%, 60% and 43% of studies, respectively.
Conclusion
This review found a paucity of cost-of-illness studies in rare diseases. However, the analysis shows that the cost-of-illness studies of rare diseases are feasible, although the main issue is the lack of primary and/or aggregated data that often prevents a reliable estimation of the economic burden.
