The High Direct Medical Costs of Prader-Willi Syndrome.

OBJECTIVE: To assess medical resource utilization associated with Prader-Willi syndrome (PWS) in the US, hypothesized to be greater relative to a matched control group without PWS. STUDY DESIGN: We used a retrospective case-matched control design and longitudinal US administrative claims data (MarketScan) during a 5-year enrollment period (2009-2014). Patients with PWS were identified by Classification of Diseases, Ninth Revision, Clinical Modification diagnosis code 759.81. Controls were matched on age, sex, and payer type. Outcomes included total, outpatient, inpatient and prescription costs. RESULTS: After matching and application of inclusion/exclusion criteria, we identified 2030 patients with PWS (1161 commercial, 38 Medicare supplemental, and 831 Medicaid). Commercially insured patients with PWS (median age 10 years) had 8.8-times greater total annual direct medical costs than their counterparts without PWS (median age 10 years: median costs $14 907 vs $819; P < .0001; mean costs: $28 712 vs $3246). Outpatient care comprised the largest portion of medical resource utilization for enrollees with and without PWS (median $5605 vs $675; P < .0001; mean $11 032 vs $1804), followed by mean annual inpatient and medication costs, which were $10 879 vs $1015 (P < .001) and $6801 vs $428 (P < .001), respectively. Total annual direct medical costs were ∼42% greater for Medicaid-insured patients with PWS than their commercially insured counterparts, an increase partly explained by claims for Medicaid Waiver day and residential habilitation. CONCLUSION: Direct medical resource utilization was considerably greater among patients with PWS than members without the condition. This study provides a first step toward quantifying the financial burden of PWS posed to individuals, families, and society.

Economic burden and health-related quality of life associated with Prader-Willi syndrome in France.

BACKGROUND: To date, there has been no published comprehensive estimation of costs related to Prader-Willi syndrome (PWS). Our objective was therefore to provide data on the economic burden and health-related quality of life associated with PWS in France in order to raise awareness of the repercussions on individuals suffering from this syndrome and on caregivers as well as on the health and social care systems. METHOD: A retrospective cross-sectional study was carried out on 51 individuals recruited through the French PWS patient association. Data on their demographic characteristics and resource use were obtained from an online questionnaire, and costs were estimated by a bottom-up approach. The EQ-5D-5L health questionnaire was used to measure the health-related quality of life of individuals suffering from PWS and their caregivers. RESULTS: The average annual cost of PWS was estimated at €58 890 per individual, with direct healthcare accounting for €42 299, direct non-healthcare formal costs €13 865 and direct non-healthcare informal costs €8459. The main contributors to PWS costs were hospitalisations and social services. Indirect costs resulting from loss of productivity in the labour market was €32 542 for adults suffering from PWS. Mean EQ-5D utility scores were 0.4 for individuals with PWS and 0.7 for caregivers. CONCLUSIONS: Prader-Willi syndrome represents a major economic burden from a societal perspective and has a significant impact on health-related quality of life both for individuals suffering from PWS and for their caregivers in France. These results underscore the need to develop tailored policies targeted at improving care. Likewise, a larger study collecting a broader range of medical characteristics should be undertaken to achieve more precise estimations.

Pediatric growth hormone treatment in Italy: A systematic review of epidemiology, quality of life, treatment adherence, and economic impact.

OBJECTIVES: This systematic review aims to describe 1) the epidemiology of the diseases indicated for treatment with growth hormone (GH) in Italy; 2) the adherence to the GH treatment in Italy and factors associated with non-adherence; 3) the economic impact of GH treatment in Italy; 4) the quality of life of patients treated with GH and their caregivers in Italy. METHODS: Systematic literature searches were performed in PubMed, Embase and Web of Science from January 2010 to March 2021. Literature selection process, data extraction and quality assessment were performed by two independent reviewers. Study protocol has been registered in PROSPERO (CRD42021240455). RESULTS: We included 25 studies in the qualitative synthesis. The estimated prevalence of growth hormone deficiency (GHD) was 1/4,000-10,000 in the general population of children; the prevalence of Short Stature HOmeoboX Containing gene deficiency (SHOX-D) was 1/1,000-2,000 in the general population of children; the birth prevalence of Turner syndrome was 1/2,500; the birth prevalence of Prader-Willi syndrome (PWS) was 1/15,000. Treatment adherence was suboptimal, with a range of non-adherent patients of 10-30%. The main reasons for suboptimal adherence were forgetfulness, being away from home, pain/discomfort caused by the injection. Economic studies reported a total cost for a complete multi-year course of GH treatment of almost 100,000 euros. A study showed that drug wastage can amount up to 15% of consumption, and that in some Italian regions there could be a considerable over- or under-prescribing. In general, patients and caregivers considered the GH treatment acceptable. There was a general satisfaction among patients with regard to social and school life and GH treatment outcomes, while there was a certain level of intolerance to GH treatment among adolescents. Studies on PWS patients and their caregivers showed a lower quality of life compared to the general population, and that social stigma persists. CONCLUSION: Growth failure conditions with approved GH treatment in Italy constitute a significant burden of disease in clinical, social, and economic terms. GH treatment is generally considered acceptable by patients and caregivers. The total cost of the GH treatment is considerable; there are margins for improving efficiency, by increasing adherence, reducing drug wastage and promoting prescriptive appropriateness.

[Utilization of growth hormone in Valencia Region, Spain, during the period 2003-2007]. / Utilización de hormona de crecimiento en la Comunidad Valenciana durante el período 2003-2007.

BACKGROUND: The main goal is to analyze the evolution of the consumption of growth hormone (Somatropin) at the Valencia region (Spain). The research focuses on the period comprising 2003-2007 and aims at assessing the impact of the change in the conditions of dispensation of the hormone (May 2005) as well as of the approval of a new indication in 2004. We have also studied the number of treated patients and expenses saved in public money due to the denial of certain treatments. METHODS: The patient data have been obtained from a proprietary database owned by the regions government, this database contains information about the requests for treatment and the consumption of growth hormone has been obtained from database Gaia and drug consumption in the hospital. The data are expressed in terms of number of treated patients, consumed milligrams and cost. RESULTS: The number of patients treated with growth hormone has increased 50% (from 346 patients in 2003 to 520 in 2007). The denial of requests for treatment has made it possible to save 3.912.253 capital JE, Ukrainian. The cost per mg of growth hormone has decreased from 27.35 capital JE, Ukrainian in 2003, when the hormone was dispensed in local pharmacy stores, to 22.34 capital JE, Ukrainian in 2007, when it was dispensed at hospitals pharmacies. The change in the conditions in which the drug is dispensed has led to a reduction of 18.3% considering current costs. CONCLUSIONS: The number of treated patients has increased a 50% from 2003 to 2007. In this period of time has been approved a new indication. The cost/mg has been reduced a 18,3 % due to the change in the conditions of dispensation. The Advisory Committee has contributed to the utilization of growth hormone according to rational drug use criteria.

Social/economic costs and health-related quality of life in patients with Prader-Willi syndrome in Europe.

OBJECTIVE: The aim of this study was to determine the economic burden from a societal perspective and health-related quality of life (HRQOL) of patients with Prader-Willi syndrome (PWS) in Europe. METHODS: We conducted a cross-sectional study of patients with PWS from Spain, Bulgaria, Hungary, Germany, Italy, the UK, Sweden and France. Data on demographic characteristics, healthcare resource utilisation, informal care, labour productivity losses and HRQOL were collected from questionnaires completed by patients or their caregivers. HRQOL was measured with the EuroQol 5-domain (EQ-5D) questionnaire. RESULTS: A total of 261 patients completed the questionnaire. The average annual costs ranged from € 3937 to € 67,484 between countries; the reference year for unit prices was 2012. Direct healthcare costs ranged from € 311 to € 18,760, direct non-healthcare costs ranged from € 1269 to € 44,035, and loss of labour productivity ranged from € 0 to € 2255. Costs were also shown to differ between children and adults. The mean EQ-5D index score for adult PWS patients ranged between 0.40 and 0.81 and the mean EQ-5D visual analogue scale score ranged between 51.25 and 90.00. CONCLUSION: The main strengths of this study lie in our bottom-up approach to costing and in the evaluation of PWS patients from a broad societal perspective. This type of analysis is very scarce in the international literature on rare diseases in comparison with other illnesses. We conclude that PWS patients incur considerable societal costs and experience substantial deterioration in HRQOL.

Diagnostic testing for Prader-Willi syndrome and Angelman syndrome: a cost comparison.

PURPOSE: Considering cost as a factor, the authors evaluated three approaches to the diagnostic testing of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). METHODS: The approaches evaluated were (1) DNA methylation studies followed by fluorescence in situ hybridization (FISH) for any positive DNA result, (2) FISH analysis followed by DNA testing for any negative result, and (3) simultaneous DNA testing and FISH analysis. RESULTS: Of 136 samples submitted for chromosome analysis and DNA methylation analysis for PWS or AS, 114 had a normal chromosome analysis and methylation studies, 9 were positive for AS, 3 were positive for PWS, and 7 had an abnormal chromosome analysis, but not deletion 15q11.2-q13, and normal methylation studies. On the basis of these results, the authors compared the cost of each testing strategy. CONCLUSION: DNA methylation studies followed by confirmation with FISH for any positive result yields a significant cost savings compared with the other approaches.