This systematic review aims to update the evidence on Duchenne muscular dystrophy (DMD) in Italy, describing the epidemiology, quality of life (QoL) of patients and caregivers, treatment adherence, ...and economic impact of DMD.
Systematic searches were conducted in PubMed, Embase and Web of Science up to January 2023. Literature selection process, data extraction and quality assessment were performed by two independent reviewers. Study protocol was registered in PROSPERO (CRD42021245196).
Thirteen studies were included. The prevalence of DMD in the general population is 1.7-3.4 cases per 100,000, while the birth prevalence is 21.7-28.2 per 100,000 live male births. The QoL of DMD patients and caregivers is lower than that of healthy subjects, and the burden for caregivers of DMD children is higher than that of caregivers of children with other neuromuscular disorders. The compliance of real-world DMD care to clinical guidelines recommendations in Italy is lower than in other European countries. The annual cost of illness for DMD in Italy is € 35,000-46,000 per capita while, adding intangible costs, the total cost amounts to € 70,000.
Although it is a rare disease, DMD represents a significant burden in terms of quality of life of patients and their caregivers, and economic impact.
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.
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).
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.
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.
We evaluated the efficacy, safety, adherence, quality of life (QoL) and cost-effectiveness of long-acting growth hormone (LAGH) vs daily growth hormone (GH) preparations in the treatment of growth ...hormone deficiency (GHD) in children. Systematic searches were performed in PubMed, Embase and Web of Science up to July 2022 on randomized and non-randomized studies involving children with GHD receiving LAGH as compared to daily GH. Meta-analyses for efficacy and safety were performed comparing different LAGH/daily GH formulations. From the initial 1393 records, we included 16 studies for efficacy and safety, 8 studies for adherence and 2 studies for QoL. No studies reporting cost-effectiveness were found. Pooled mean differences of mean annualized height velocity (cm/year) showed no difference between LAGH and daily GH: Eutropin Plus® vs Eutropin® − 0.14 (−0.43, 0.15), Eutropin Plus® vs Genotropin® − 0.74 (−1.83, 0.34), Jintrolong® vs Jintropin AQ® 0.05 (−0.54, 0.65), Somatrogon vs Genotropin® − 1.40 (−2.91, 0.10), TransCon vs Genotropin® 0.93 (0.26, 1.61). Also, other efficacy and safety outcomes, QoL and adherence were comparable for LAGH and daily GH.
Our results showed that, although most of the included studies had some concerns for risk of bias, regarding efficacy and safety all the LAGH formulations were similar to daily GH. Future high quality studies are needed to confirm these data. Adherence and QoL should be addressed from real-world data studies for both the mid and long term and in a larger population. Cost-effectiveness studies are needed to measure the economic impact of LAGH from the healthcare payer’s perspective.
Display omitted
•Therapy with Long-acting GH preparations (LAGH) reduces the frequency of administration of GH.•Pooled mean differences of mean annualized height velocity showed no difference between LAGH and daily GH.•Safety outcomes were comparable for LAGH and daily GH.•Quality of life in children taking LAGH was similar to that of children using daily GH.•As is observed in RCTs, adherence was similarly high with daily GH and weekly GH.
The availability of a new 20-valent pneumococcal conjugate vaccine (PCV) makes it appropriate to assess its cost-effectiveness. This was evaluated by adopting the Italian National Health Service ...perspective, using a cost consequences Markovian model. The expected effects of vaccination with 20-valent PCV were compared with the administration of 13-valent PCV and 15-valent PCV. Assuming a 100% vaccination of cohorts aged 65-74 years, in the (lifetime) comparison between 20-valent PCV and 13-valent PCV, the former is dominant (lower cost for a better health outcome). A reduction in disease events was estimated: -1208 deaths; -1171 cases of bacteraemia; -227 of meningitis; -9845 hospitalised all-cause nonbacteremic pneumonia cases (NBP) and -21,058 non-hospitalised. Overall, in the Italian population, a total gain of 6581.6 life years and of 4734.0 QALY was estimated. On the cost side, against an increase in vaccinations costs (EUR +40.568 million), other direct health costs are reduced by EUR 48.032 million, with a net saving of EUR +7.464 million. The comparison between 20-valent PCV and 15-valent PCV results in an Incremental Cost-Effectiveness Ratio (ICER) of EUR 66 per life year gained and EUR 91 per QALY gained. The sensitivity analyses confirm the robustness of the results. We can conclude that the switch to 20-valent PCV is a sustainable and efficient investment.
Our study's objective was to assess the incidence trends and healthcare resource utilization of hospitalizations for Tick-Borne Encephalitis (TBE) and associated costs in Italy in order to improve ...public awareness and preventive measures.
This retrospective observational study was based on the Italian Ministry of Health's Hospital Discharge Record (HDR) database. Data were gathered across Italy from 2015 to 2019, selecting hospitalizations with ICD-9 code 063 related to TBE, both in primary and secondary diagnoses. For each year, we collected the following variables: number of hospitalizations, hospitalization rate, mortality rate, mean length of hospital stay, hospital ward, and cost of hospitalization.
There were a total of 237 hospitalizations from 2015 to 2019; 62 % of those were male. The lowest number of TBE hospitalizations was in 2015 (21 cases, corresponding to 0.35 per million inhabitants), the highest in 2019 (64 cases, 1.04 per million inhabitants). The summer months saw a greater than average number of hospitalizations. For the years analyzed, the cumulative number of cases peaked in June (54 cases), July (46 cases), and August (35 cases). There were only two deaths registered in our study sample. TBE cases were mostly localized in the North-Eastern regions of Italy. TBE incidence during the study period in the most affected areas were: Autonomous Province of Trento, ranging from 11.2 to 42.3 per million inhabitants, Autonomous Province of South Tyrol, from 0 to 21.1 per million inhabitants, and Veneto Region, from 2.6 to 4.5 per million inhabitants. In the study period, the average length of hospital stay was largely stable ranging from 10.6 days to 12.8 days, with related costs ranging from 5,813.7 € to 7,352.5 €.
According to our data, the majority of TBE hospitalizations occur in North-East Italy with an increasing trend over the analyzed period. Even though Italy has fewer TBE cases than other neighboring European countries, the health and economic impact can be high in the affected areas.
Abstract Background Respiratory syncytial virus (RSV) affects 60–80% of children below 1 year and it’s the first cause of acute bronchiolitis. The aim of this study was to assess the trend and ...characteristics of hospitalizations for RSV infections in Italy. Methods This is a retrospective study based on the Italian Hospital Discharge Record (HDR) database. We analysed HDRs from June 2015 to May 2019, considering two groups of infants: Group 1 had a confirmed diagnosis of RSV; Group 2 had a diagnosis of acute bronchiolitis not RSV-coded. Results There were 67,746 overall hospitalizations (40.1% Group 1, and 59.9% Group 2). Hospitalization rate increased for Group 1 from 125 to 178 per 10,000 infants (+ 42.4%), and for Group 2 from 210 to 234 per 10,000 (+ 11.4%). The mean hospitalization length was 6.3 days in Group 1, longer than Group 2 (+ 1.0 day). A further analysis revealed that infants with heart disease or born premature had longer mean hospital stay compared to infants without risk factors (10.7 days versus 6.1 days, p < 0.0001; 34.0 days versus 6.1 days, p < 0.0001, respectively). Group 1 required more critical care (oxygen therapy and/or mechanical ventilation) than Group 2. We found that, in proportion to hospital admissions in pediatric and general hospitals, RSV was more frequently diagnosed in the first ones. The mean hospitalization cost increased for Group 1 (from € 2,483 to € 2,617) and Group 2 (from € 2,007 to € 2,180). Conclusions Our results confirmed that RSV pulmonary disease in infants is seasonal and often requires hospitalization. Our study suggested that RSV is responsible for an increasing hospitalization rate and related costs during the study period.
Introduction: There are an estimated 26 million rare disease patients in Europe, about 2 million in Italy. Access to orphan drugs has been evaluated nationally and internationally, and delays have ...been observed due to evaluation of price and therapeutic value. The objectives of this study are: to assess the availability of EMA-authorized orphan drugs at national and regional level; to study time trends and regional variability in consumption and spending, and to estimate the time to access in Italian regions.
Methods: We evaluate the availability of EMA authorized orphan drugs in Italy. Based on data from the Traceability of medicines dataflow for period 2016-2021 we evaluate the expenditure, consumption and availability of orphan drugs in each region. To estimate the time to access we consider the days between the end of negotiation procedure and the first purchase by regions.
Results: In 2021 in Italy are available 94% of EMA authorized orphan drugs. The expenditure and consumption have grown during the last decade. The availability is higher in bigger regions, that also take care of patients from smaller regions. The pro capite expenditure and consumption in DDD/1,000 ab die is similar in all the geographic area. Time to regional access is on average 123 days, that grows to 224 excluding the orphan drugs dispensed before the end of reimbursement procedure.
Background: Understanding trends in pneumonia-associated hospitalizations can help to quantify the burden of disease and identify risk conditions and at-risk populations. This study evaluated ...characteristics of hospitalizations due to pneumonia that occurred in Italy in a 10-year period from 2010 to 2019. Methods: All hospitalizations with a principal or secondary diagnosis of pneumonia over the 10-year period were included, which were identified by hospital discharges for all-cause pneumonia and pneumococcal pneumonia in the anonymized hospital discharge database of the Italian Health Ministry. Results: A total of 2,481,213 patients were hospitalized for pneumonia between 2010 and 2019; patients aged 75−86 years accounted for 30.1% of hospitalizations. Most hospitalizations (88.1%) had an unspecified pneumonia discharge code. In-hospital death was recorded in 13.0% of cases. The cumulative cost for pneumonia hospitalizations of the 10-year period were EUR 11,303,461,591. Over the observation period, the incidence rate for hospitalized all-cause pneumonia in any ages increased from 100 per 100,000 in 2010 to over 160 cases per 100,000 per year in 2019 (p < 0.001). Overall, there was a significant increase in annual percent changes in hospitalization rates (+3.47 per year), in-hospital death (+4.6% per year), and costs (+3.95% per year) over the 10-year period. Conclusions: Our analysis suggests that hospitalizations for pneumonia are increasing over time in almost all age groups, especially in the elderly. Given the substantial burden of pneumonia in terms of mortality, healthcare resources, and economic costs, greater public health efforts should thus be made to promote vaccinations against influenza and pneumococcus, particularly in high-risk groups.
Understanding the distribution of prostate cancer (PC) at various clinical stages of disease is of utmost importance to quantify the cancer care needs of patients and to adequately plan health ...services. The aim of this analysis is thus to provide a model-based estimation of the number of prevalent PC patients at different clinical stages in the Italian setting. A simulation model of patient transitions was constructed on a yearly basis using data obtained through a literature review on the incidence, prevalence, progression and mortality of PC, with specific focus on disease stage. A total of 462,570 prevalent PC patients were estimated at 1 January 2019. According to the model, 94.8% of them had non-metastatic PC and 5.2% had metastatic disease. Among the non-metastatic patients, most had T1/T2 PC (85.6%), followed by T3/T4 (10.9%) and T0/Tx PC (3.6%). About 20% of the T3/T4 patients had biochemically recurrent PC. Among the metastatic PC patients, 66.1% had castration-resistant PC and 33.9% had hormone-sensitive PC. This study provided original information on the distribution of PC according to different clinical stages that may be useful to define strategies, understand the PC disease pathway, estimate treatment-related needs and, possibly, plan targeted interventions for public health management of prostate cancer in Italy.
Fabry disease (FD) is a genetic disease included in the group of lysosomal storage disorders, caused by X-linked deficiency of the enzyme alpha-galactosidase A. The aim of this study was to evaluate ...different aspects related to the quality of life (QoL) of a multicentre cohort of Italian patients with FD. An observational survey was conducted to measure health-related quality of life (HR-QoL) in FD patients using the CAPI (Computer-Assisted Personal Interview) method: 106 patients (mostly women) responded to the questionnaire. Geographically, 53.7% of patients lived in northern Italy, 18.9% in central Italy and 27.4% in southern Italy or the Islands. All data were collected through a five-dimensional EuroQoL questionnaire referring to functional aspects (mobility, personal care, routine activities) and perception of physical/mental well-being (pain or discomfort, anxiety or depression). A descriptive analysis of responses was performed; FD patients were compared in terms of QoL with subjects suffering from other chronic diseases, such as Crohn’s disease, chronic hepatitis, cirrhosis and multiple sclerosis. Difficulty in normal daily activities was reported by 47.2% of FD patients. About one third of subjects also had mobility difficulties. Feelings of loneliness and isolation were reported by 33.3% of those being 60–69 years old. Anxiety was equally reported in both oldest and youngest patients (66.7%), while depression, relational problems, fear of other people’s judgement increased along with age, reaching 66.7% in the over-70-years group. Male patients were largely troubled about the risk of physical disability, particularly those aged 60 years or over. Furthermore, FD patients had a poorer QoL than people suffering from other chronic inflammatory disorders. Our study upholds that FD patients have a poor QoL, as already known, negatively impacting psychic well-being and social activities. Our survey has also found a worse QoL in FD patients compared with other severe chronic disorders.
PDF
