Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.

Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported.

Medical Nutrition Terminology and Regulations in the United States and Europe-A Scoping Review: Report of the ISPOR Nutrition Economics Special Interest Group.

BACKGROUND: The term medical nutrition (MN) refers to nutritional products used under medical supervision to manage disease- or condition-related dietary needs. Standardized MN definitions, aligned with regulatory definitions, are needed to facilitate outcomes research and economic evaluation of interventions with MN. OBJECTIVES: Ascertain how MN terms are defined, relevant regulations are applied, and to what extent MN is valued. METHODS: ISPOR's Nutrition Economics Special Interest Group conducted a scoping review of scientific literature on European and US MN terminology and regulations, published between January 2000 and August 2015, and pertinent professional and regulatory Web sites. Data were extracted, reviewed, and reconciled using two-person teams in a two-step process. The literature search was updated before manuscript completion. RESULTS: Of the initial 1687 literature abstracts and 222 Web sites identified, 459 records were included in the analysis, of which 308 used MN terms and 100 provided definitions. More than 13 primary disease groups as per International Classification of Disease, Revision 10 categories were included. The most frequently mentioned and defined terms were enteral nutrition and malnutrition. Less than 5% of the records referenced any MN regulation. The health economic impact of MN was rarely and insufficiently (n = 19 [4.1%]) assessed, although an increase in economic analyses was observed. CONCLUSIONS: MN terminology is not consistently defined, relevant European and US regulations are rarely cited, and economic evaluations are infrequently conducted. We recommend adopting consensus MN terms and definitions, for example, the European Society for Clinical Nutrition and Metabolism consensus guideline 2017, as a foundation for developing reliable and standardized medical nutrition economic methodologies.

Rationale and Plan for Vitamin D Food Fortification: A Review and Guidance Paper.

Vitamin D deficiency can lead to musculoskeletal diseases such as rickets and osteomalacia, but vitamin D supplementation may also prevent extraskeletal diseases such as respiratory tract infections, asthma exacerbations, pregnancy complications and premature deaths. Vitamin D has a unique metabolism as it is mainly obtained through synthesis in the skin under the influence of sunlight (i.e., ultraviolet-B radiation) whereas intake by nutrition traditionally plays a relatively minor role. Dietary guidelines for vitamin D are based on a consensus that serum 25-hydroxyvitamin D (25[OH]D) concentrations are used to assess vitamin D status, with the recommended target concentrations ranging from ≥25 to ≥50 nmol/L (≥10-≥20 ng/mL), corresponding to a daily vitamin D intake of 10 to 20 µg (400-800 international units). Most populations fail to meet these recommended dietary vitamin D requirements. In Europe, 25(OH)D concentrations <30 nmol/L (12 ng/mL) and <50 nmol/L (20 ng/mL) are present in 13.0 and 40.4% of the general population, respectively. This substantial gap between officially recommended dietary reference intakes for vitamin D and the high prevalence of vitamin D deficiency in the general population requires action from health authorities. Promotion of a healthier lifestyle with more outdoor activities and optimal nutrition are definitely warranted but will not erase vitamin D deficiency and must, in the case of sunlight exposure, be well balanced with regard to potential adverse effects such as skin cancer. Intake of vitamin D supplements is limited by relatively poor adherence (in particular in individuals with low-socioeconomic status) and potential for overdosing. Systematic vitamin D food fortification is, however, an effective approach to improve vitamin D status in the general population, and this has already been introduced by countries such as the US, Canada, India, and Finland. Recent advances in our knowledge on the safety of vitamin D treatment, the dose-response relationship of vitamin D intake and 25(OH)D levels, as well as data on the effectiveness of vitamin D fortification in countries such as Finland provide a solid basis to introduce and modify vitamin D food fortification in order to improve public health with this likewise cost-effective approach.

The projected public health and economic impact of vitamin D fortified dairy products for fracture prevention in France.

BACKGROUND: There is a paucity of research that projects the public health and economic impact of healthcare interventions in the future. In this study, we aimed to estimate the public health and economic impact of vitamin D fortified dairy products for the years 2020, 2030, 2040, 2050 and 2060. METHODS: We used a previously validated Markov microsimulation model that was designed to assess the public health and economic impact of dairy products for fracture prevention in the French general population aged over 60 years in the year 2015. RESULTS: The expected benefit (in terms of fractures prevented) of the recommended intake of dairy products compared to the absence of appropriate intake is expected to increase by 63% in 2040 and by 85% in 2060. The cost per quality-adjusted life years gained of the appropriate intake of dairy products is expected to decrease from €58,244 in 2015 to €42,616 in 2060. CONCLUSION: The potential public health and economic benefits of vitamin D fortified dairy products is expected to substantially increase in the future, especially in the population aged over 80 years. Decision makers should be aware of the current and future potential benefits of dairy products to protect bone fractures.

Cost-effectiveness of dedicated dietitians for hyperphosphatemia management among hemodialysis patients in Lebanon: results from the Nutrition Education for Management of Osteodystrophy trial.

AIM: To assess the cost-effectiveness of nutrition education by dedicated dietitians (DD) for hyperphosphatemia management among hemodialysis patients. MATERIALS AND METHODS: This was a trial-based economic evaluation in 12 Lebanese hospital-based units. In total, 545 prevalent patients were cluster randomized to DD, trained hospital dietitian (THD), and existing practice (EP) groups. During Phase I (6 months), DD (n = 116) received intensive education by DD trained on renal nutrition, THD (n = 299) received care from trained hospital dietitians, and EP (n = 130) received usual care from untrained hospital dietitians. Patients were followed-up during Phase II (6 months). RESULTS: At baseline, EP had the lowest weekly hemodialysis time, and DD had the highest serum phosphorus and malnutrition-inflammation score. The additional costs of the intervention were low compared with the societal costs (DD: $76.7, $21,007.7; EP: $4.6, $18,675.4; THD: $17.4, $20,078.6, respectively). Between Phases I and II, DD showed the greatest decline in services use and societal costs (DD: -$2,364.0; EP: -$1,727.7; THD: -$1,105.7). At endline, DD experienced the highest decrease in adjusted serum phosphorus (DD: -0.32; EP: +0.16; THD: +0.04 mg/dL), no difference in quality-adjusted life-years (QALY), and the highest societal costs. DD had a cost-effectiveness ratio of $7,853.6 per 1 mg decrease in phosphorus, compared with EP; and was dominated by THD. Regarding QALY, DD was dominated by EP and THD. The results were sensitive to changes in key parameters. LIMITATIONS: The analysis depended on numerous assumptions. Interpreting the results is limited by the significant baseline differences in key parameters, suggestive of higher baseline societal costs in DD. CONCLUSIONS: DD yielded the greatest effectiveness and decrease in societal costs, but did not affect QALY. Regarding serum phosphorus, DD was likely to be cost-effective compared with EP, but had a low cost-effectiveness probability compared with THD. Regarding QALY, DD was not likely to be cost-effective. Assessing the long-term cost-effectiveness of DD, on similar groups, is recommended.

A scoping review of the public health impact of vitamin D-fortified dairy products for fracture prevention.

PURPOSE: Dairy products are rich in nutrients that positively influence bone health and hence fracture risk, and have therefore been recommended and used for fracture prevention. To help decision makers to efficiently allocate scare resources, it is further important to assess the public health and economic impact of any health intervention. In recent years, several studies have been conducted to estimate the public health and/or economic impact of dairy products but no overview is currently available. This article aims therefore to summarize evidence and review articles that estimated the public health and/or economic impact of vitamin D-fortified dairy products for fracture prevention. METHODS: A literature review was conducted using PubMed to identify original studies that assessed the public health and/or economic impact of dairy products (or of calcium/vitamin D supplementation) for fracture prevention up to January 15, 2017. RESULTS: Seven articles were identified. Different strategies were used by the authors to model the economic/public health impact of dairy products. The four studies assessing the public health impact of dairy products revealed a substantial benefit in terms of fracture prevented, life years, disability-adjusted life years and/or quality-adjusted life years gained. Studies assessing the cost-effectiveness revealed that the use of dairy products is generally cost-effective in the general population aged above 70 years, and from the age of 60 years in populations at high risk of fractures. CONCLUSION: This systematic review suggests that the use of dairy products could substantially reduce the burden of osteoporotic fractures and seem to be an economically beneficial strategy.

Public health impact and cost-effectiveness of dairy products supplemented with vitamin D in prevention of osteoporotic fractures.

BACKGROUND: Dietary sources of calcium and vitamin D are recommended as a first-line strategy in prevention of osteoporosis-related fractures but their public health and economic impact has never been studied. METHODS: We designed a population-based model to forecast the potential health outcomes and medical effectiveness of the daily administration of dairy supplements containing 800 IU of vitamin D and 1 g of calcium in cohorts of subjects, from both genders, aged 50, 60, 70 and 80 years. Annual costs of dairy products were tested at €150, €250 and €350. RESULTS: In total, the daily intake of vitamin-D rich dairy products reduces by 30,376 and 16,105 events the number of osteoporotic fractures in women and men respectively and permits to gain 6605 and 6144 life-years, in women and men respectively. This intervention is cost-effective from 70 years on in the general population and from 60 years on in patients at increased risk of osteoporotic fractures. CONCLUSION: The recommendation to use dairy products as the preferred source of calcium and vitamin D in aging males and females is supported by public health and health economic analyses.

Cost-effectiveness of vitamin D and calcium supplementation in the treatment of elderly women and men with osteoporosis.

BACKGROUND: The supplementation with vitamin D and calcium has been recommended for elderly, specifically those with increased risk of fractures older than 65 years. This study aims to assess the cost-effectiveness of vitamin D and calcium supplementation in elderly women and men with osteoporosis and therefore to assess if this recommendation is justified in terms of cost-effectiveness. METHODS: A validated model for economic evaluations in osteoporosis was used to estimate the cost per quality-adjusted life-year (QALY) gained of vitamin D/calcium supplementation compared with no treatment. The model was populated with cost and epidemiological data from a Belgian health-care perspective. Analyses were conducted in women and men with a diagnosis of osteoporosis (i.e. bone mineral density T-score ≤-2.5). A literature search was conducted to describe the efficacy of vitamin D and calcium in terms of fracture risk reduction. RESULTS: The cost per QALY gained of vitamin D/calcium supplementation was estimated at €40 578 and €23 477 in women and men aged 60 years, respectively. These values decreased to €7912 and €10 250 at the age of 70 years and vitamin D and calcium supplementation was cost-saving at the age of 80 years, meaning that treatment cost was less than the costs of treating osteoporotic fractures of the no-treatment group. CONCLUSION: This study suggests that vitamin D and calcium supplementation is cost-effective for women and men with osteoporosis aged over 60 years. From an economic perspective, vitamin D and calcium should therefore be administrated in these populations including those also taking other osteoporotic treatments.

Potential clinical and economic impact of nonadherence with osteoporosis medications.

This study aims to estimate the potential clinical and economic implications of therapeutic adherence to bisphosphonate therapy. A validated Markov microsimulation model was used to estimate the impact of varying adherence to bisphosphonate therapy on outcomes (the number of fractures and the quality-adjusted life-years [QALYs]), health-care costs, and the cost-effectiveness of therapy compared with no treatment. Adherence was divided into persistence and compliance, and multiple scenarios were considered for both concepts. Analyses were performed for women aged 65 years with a bone mineral density T-score of -2.5. Health outcomes and the cost-effectiveness of therapy improved significantly with increasing compliance and/or persistence. In the case of real-world persistence and with a medical possession ratio (MPR; i.e., the number of doses taken divided by the number of doses prescribed) of 100%, the QALY gain and the number of fractures prevented represented only 48 and 42% of the values estimated assuming full persistence, respectively. These proportions fell to 27 and 23% with an MPR value of 80%. The costs per QALY gained, for branded bisphosphonates (and generic alendronate), were estimated at 19,069 euros (4,871 euros), 32,278 euros (11,985 euros), and 64,052 euros (30,181 euros) for MPR values of 100, 80, and 60%, respectively, assuming real-world persistence. These values were 16,997 euros (2,215 euros), 24,401 euros (6,179 eruos), and 51,750 euros (20,569 euros), respectively, assuming full persistence. In conclusion, poor compliance and failure to persist with osteoporosis medications results not only in deteriorating health outcomes, but also in a decreased cost-effectiveness of drug therapy. Adherence therefore remains an important challenge for health-care professionals treating osteoporosis.