scholarly journals Patient characteristics and hospitalisation costs of spinal muscular atrophy in Spain: a retrospective multicentre database analysis

BMJ Open ◽  
2019 ◽  
Vol 9 (11) ◽  
pp. e031271
Author(s):  
Josep Darbà ◽  
Alicia Marsà
Keyword(s):  
Disease Management ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Indirect Costs ◽  
Patient Characteristics ◽  
Medical Costs ◽  
Hospital Inpatient ◽  
Database Analysis ◽  
Use Of Resources ◽  
The Impact

ObjectivesTo analyse the characteristics of patients diagnosed with spinal muscular atrophy in Spain, and to revise data on disease management and use of resources in both public and private healthcare centres.DesignA retrospective multicentre database analysis.Setting870 admission records registered between 1997 and 2015 with a diagnosis of spinal muscular atrophy were extracted from a Spanish claims database that includes hospital inpatient and outpatient admissions from 313 public and 192 private hospitals in Spain.ResultsAdmission files corresponded to 705 patients; 61.99% were males and 38.01% females. Average patient age was 37 years. Disease comorbidities registered during the admission consistently included hypertension, scoliosis and respiratory failures, all associated with the standard disease course. Regarding disease management at the hospital level, patients were mostly admitted through scheduled appointments (58.16%), followed by emergency admissions (41.72%), and into neurology services in 17% of the cases. Mean hospitalisation time was 10.45 days and in-hospital mortality reached 5.29%. The overall direct medical costs of spinal muscular atrophy were €291 525, excluding medication. The average annual cost per admission was €6274, with large variations likely to reflect disease complexity and that increases with length of stay.ConclusionsThe rarity of the disease difficulties the study of demographics and management; yet, an analysis of patient characteristics provides necessary information that can be used by governments to establish more efficient healthcare protocols. This study reflects the impact that individual needs and disease severity can have in disease burden calculations. Forthcoming decision-making policies should take into account medical costs and its variability, as well as pharmaceutical expenses and indirect costs. To our knowledge, this is the first study evaluating the use of healthcare resources of patients with spinal muscular atrophy in Spain.

scholarly journals Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China

2020 ◽  
Author(s):  
Yingjie Sun ◽  
Xiangdong Kong ◽  
Zhenhua Zhao ◽  
Xuechao Zhao
Keyword(s):  
Prenatal Diagnosis ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Point Mutations ◽  
Homozygous Deletion ◽  
Common Mutation ◽  
Type I ◽  
Copy Numbers ◽  
Smn2 Gene ◽  
The Impact

Abstract Background Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e., Spinraza (Nusinersen), has been approved by the FDA, bringing hope to SMA patients and families. Accurate diagnosis is essential for treatment. Our goal was to detect genetic mutations in SMA patients in China and to show the results of the prenatal diagnosis of SMA.Methods In this study, we examined 419 patients in our hospital from January 2010 to September 2019. Multiplex ligation-dependent probe amplification analysis was used to determine the copy numbers of SMN1 and SMN2. Long-range PCR combined with nested PCR was used to detect point mutations in SMN1. In addition to the above detection methods, we also used QF-PCR in prenatal diagnosis to reduce the impact of maternal contamination. We conducted a total of 339 prenatal diagnoses from January 2010 to September 2019.Results Homozygous deletion of SMN1 exon 7 was detected in 96.40% (404/419) of patients. Homozygous deletion of SMN1 exon 7 alone was detected in 15 patients (3.60%). In total, 10 point mutations were detected in the 15 pedigrees. Most patients with SMA Type I have 1~2 copies of the SMN2 gene. Patients with SMA Type II have 2 or 3 copies of the SMN2 gene. The results of prenatal diagnoses showed that 118 fetuses were normal, 149 fetuses were carriers of heterozygous variants, and the remaining 72 fetuses harbored compound heterozygous variants or homozygous variants. Conclusions Our study found that the most common mutation in SMA was homozygous deletion of SMN1 exon 7 in our study. We suggest that detecting only the deletion of exon 7 of SMN1 can meet most of the screening needs. We also believe that SMN2 copy numbers can help infer the disease classification and provide some reference for future treatment options.

scholarly journals The National Economic Burden of Rare Disease in United States in 2019

2021 ◽  
Author(s):  
Grace Yang ◽  
Inna Cintina ◽  
Anne Pariser ◽  
Elisabeth Oehrlein ◽  
Jamie Sullivan ◽  
...  
Keyword(s):  
Rare Disease ◽  
Direct Medical Cost ◽  
Medical Cost ◽  
Economic Burden ◽  
Claims Data ◽  
Indirect Costs ◽  
Medical Costs ◽  
Hospital Inpatient ◽  
Care Providers ◽  
National Economic

Abstract Background: To provide a comprehensive assessment of the total economic burden of rare diseases (RD) in the U.S. in 2019.We followed a prevalence-based approach that combined the prevalence of 379 RDs with the per-capita direct medical and indirect costs, to derive the national economic burden by patient age and type of RD. To estimate prevalence and the direct medical cost of RD, we used claims data from three sources: Medicare 5% Standard Analytical File, Transformed Medicaid Statistical Information System, and Optum claims data for the privately insured. To estimate indirect and non-medical cost components, we worked with the rare disease community to design and implement a primary survey.Results: There were an estimated 15.5 million U.S. children (N=1,322,886) and adults (N=14,222,299) with any of the 379 RDs in 2019 with a total economic burden of $997 billion, including a direct medical cost of $449 billion (45%), $437 billion (44%) in indirect costs, and $111 billion (11%) in non-medical costs. The top drivers for excess medical costs associated with RD are hospital inpatient care and prescription medication; the top indirect cost categories are labor market productivity losses due to absenteeism, presenteeism, and forced early retirement.Conclusions: Our findings highlight the scale of the RD economic burden and call for immediate attention from the scientific communities, policy leaders, and other key stakeholders such as health care providers and employers, to think innovatively and collectively, to identify new ways to help improve the care, management, and treatment of these often-devastating diseases.

scholarly journals Direct non-medical and indirect costs of diabetes and its associated complications in Vietnam: an estimation using national health insurance claims from a cross-sectional survey

BMJ Open ◽  
2020 ◽  
Vol 10 (3) ◽  
pp. e032303 ◽  
Author(s):  
Thi Tuyet Mai Kieu ◽  
Hong Nhung Trinh ◽  
Huy Tuan Kiet Pham ◽  
Thanh Binh Nguyen ◽  
Junice Yi Siu Ng
Keyword(s):  
Health Insurance ◽  
Indirect Costs ◽  
Premature Mortality ◽  
Medical Costs ◽  
Second Phase ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Secondary Sources ◽  
Working Age ◽  
The Impact

ObjectiveThe prevalence of diabetes in Vietnam has increased from 2.5% in 2007 to 5.5% in 2017, but the burden of direct non-medical and indirect costs is unknown. The objective of this study was to estimate the direct non-medical costs and indirect costs due to type 2 diabetes mellitus (T2DM) and its associated complications among Vietnam Health Insurance System (VHIS) enrollees in Vietnam.DesignThe first phase was a cross-sectional survey of patients with T2DM. In the second phase, data from the previous phase were used to predict direct non-medical costs and presenteeism costs of VHIS enrollees diagnosed with T2DM based on demographic and clinical characteristics in 2017. The human-capital approach was used for the calculation of indirect costs.Setting and participantsThis study recruited 315 patients from a national hospital, a provincial hospital and a district hospital aged 18 or above, diagnosed with T2DM, enrolled in VHIS, and having at least one visit to hospitals between 1 June and 30 July 2018. The VHIS dataset contained 1,395,204 patients with T2DM.Outcome measuresThe direct non-medical costs and presenteeism were collected from the survey. Absenteeism costs were estimated from the VHIS database. Costs of premature mortality were calculated based on the estimates from secondary sources.ResultsThe total direct non-medical and indirect costs were US$239 million in 2017. Direct non-medical costs were US$78 million, whereas indirect costs were US$161 million. Costs of absenteeism, presenteeism and premature mortality corresponded to 17%, 73% and 10% of the indirect costs. Patients incurred annual mean direct non-medical costs of US$56. Annual mean absenteeism and presenteeism costs for patients in working age were US$61 and US$267, respectively.ConclusionsThe impact of T2DM on direct non-medical and indirect costs on diabetes is substantial. Direct non-medical and absenteeism costs were higher in patients with complications.

The impact of subsequent metastasis on medical costs in Medicare patients with prostate cancer.

2016 ◽  
Vol 34 (2_suppl) ◽  
pp. 81-81
Author(s):  
Tracy Li ◽  
Neal D. Shore ◽  
Maneesha Mehra ◽  
Mary Beth Todd ◽  
Ryan Saadi ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Index Date ◽  
Skilled Nursing Facility ◽  
Patient Characteristics ◽  
Medical Costs ◽  
The United States ◽  
Control Group ◽  
Medicare Claims ◽  
The Impact ◽  
Observation Period

81 Background: The objective of this study was to estimate the direct medical costs of secondary metastases in prostate cancer (PC) patients initially diagnosed with locoregional disease. Methods: We used data from the United States Surveillance, Epidemiology, and End Results (SEER) cancer registry linked to Medicare claims to identify a cohort of PC patients initially diagnosed with locoregional disease between 2000 and 2011, who were age ≥ 66 at diagnosis, and who first had a diagnosis of metastasis (index date) ≥ 4 months after PC diagnosis (cases). We matched each case to up to four controls (patients without metastasis) on baseline patient characteristics to assess the incremental impact of developing metastasis. A “match date” corresponding to the index date of the case was constructed for each control. Cases and controls were followed from up to 12 months before and up to 12 months after metastasis. Medicare claims were used to calculate the average total cost per month in the cases and controls. Monthly costs also were stratified according to place and type of service, e.g. inpatient, outpatient, and by whether costs pertained to cancer services, i.e. chemotherapy or androgen deprivation therapy (ADT), other services with an ICD-9 code for cancer, or other care. Results: The cohort consisted of 10,370 cases and 39,200 controls, with a mean age at baseline of 79 years in both groups. The median time to subsequent metastasis (cases) was 37 months and 85% had bone metastasis. In the control group, total costs remained stable throughout the observation period, averaging $1,354/month before and $1,173 12/month after matched index date. In the cases, costs were similar to the controls from -12 to -6 months before the index date. Thereafter, medical costs rose sharply to $11,982 in the month of diagnosis of metastasis (index date), and then declined but stayed > $2,000/month higher than the control for the remainder of the observation period. Expenses from inpatient, physician services, outpatient, and skilled nursing facility accounted for the largest proportions of total costs. Conclusions: Developing metastasis in Medicare PC patients results in substantial additional costs to the healthcare system.

Contribution of the immune system and astrocytes to spinal muscular atrophy pathology

2018 ◽  
Author(s):  
◽  
Marie-Therese Khairallah
Keyword(s):  
Immune System ◽  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Membrane Integrity ◽  
Survival Motor Neuron ◽  
White Pulp ◽  
Functional Impairments ◽  
Altered Expression ◽  
The Impact

[ACCESS RESTRICTED TO THE UNIVERSITY OF MISSOURI AT AUTHOR'S REQUEST.] Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease and the leading genetic cause of infant mortality. SMA is caused by afunctional loss of the survival motor neuron-1 (SMN1) gene and the subsequent deficiency of the ubiquitously expressed survival motor neuron (SMN) protein. SMA presents by motor neuron loss and muscle atrophy, and historically was considered an autonomous disease of the a-lower motor neuron (LMN). In this work we investigated effects of low levels of SMN outside the LMNs. Specifically, we looked in the spleen to determine the impact of SMN deficiency on the spleen development and the integrity of the splenic immune cells. Additionally, we analyzed astrocytes to determine if they exhibit functional impairments that could compromise their role in supporting the survival and function of LMNs. First, we reported spleen hypoplasia in multiple SMA mouse models with alteration of the splenic architecture due to a severe reduction in the red pulp zone and relative conservation of the white pulp area. We found alterations in the relative abundance of splenic mediators of the immune response, where the resident macrophage subset was depleted starting at early pre-symptomatic time (post-natal day 2), whereas the B- and T-lymphocytes, and CD11b+ macrophages had higher frequency at the late symptomatic age (post-natal day 12). Secondly, we showed that primary astrocytes derived from the spinal cord of a SMA mouse model had compromised efficiency in their glutamate uptake capacity. Moreover, SMA spinal cords had altered expression in the level of flottilin-1, a lipid raft protein necessary for cell membrane integrity and for the function of receptors and transporters. Furthermore, we showed a higher expression of the NR2B, a subunit of the glutamate receptor NMDAR that signals mainly toward apoptosis. In summary, this work characterized new pathologies in two non-neuronal tissues in the CNS and in the periphery, demonstrated that the spleen and the immune system are likely contributing to the overall clinical pathology of SMA, and found altered mechanisms in astrocytes function that might explain their effect on LMNs in SMA.

scholarly journals Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Katharina Vill ◽  
Oliver Schwartz ◽  
Astrid Blaschek ◽  
Dieter Gläser ◽  
Uta Nennstiel ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
Muscular Atrophy ◽  
Neurodevelopmental Outcome ◽  
Specific Treatment ◽  
Time Interval ◽  
Short Time Interval ◽  
Relevant Parameter ◽  
The Impact

Abstract Background Spinal muscular atrophy (SMA) is the most common neurodegenerative disease in childhood. Since motor neuron injury is usually not reversible, early diagnosis and treatment are essential to prevent major disability. Our objective was to assess the impact of genetic newborn screening for SMA on outcome. Methods We provided clinical data from 43 SMA patients, identified via polymerase chain reaction of the SMN1 gene from dried blood spots between January 2018 and January 2020 in Germany. Follow-up included neurophysiological examinations and standardized physiotherapeutic testing. Results Detection of SMA with newborn screening was consistent with known incidence in Germany. Birth prevalence was 1:6910; 39.5% had 2 SMN2 copies, 23% had 3 SMN2 copies, 32.5% had 4 copies, and 4.5% had 5 copies of the SMN2 gene. Treatment with SMA-specific medication could be started at the age of 14–39 days in 21 patients. Pre-symptomatically treated patients remained throughout asymptomatic within the observation period. 47% of patients with 2 SMN2 copies showed early, presumably intrauterine onset of disease. These patients reached motor milestones with delay; none of them developed respiratory symptoms. Untreated children with 2 SMN2 copies died. Untreated children with 3 SMN2 copies developed proximal weakness in their first year. In patients with ≥ 4 SMN2 copies, a follow-up strategy of “watchful waiting” was applied despite the fact that one of them was treated from the age of 6 months. Two infant siblings with 4 SMN2 copies were identified with a missed diagnosis of SMA type 3. Conclusion Identification of newborns with infantile SMA and prompt SMA-specific treatment substantially improves neurodevelopmental outcome, and we recommend implementation in the public newborn screening in countries where therapy is available. Electrophysiology is a relevant parameter to support the urgency of therapy. There has to be a short time interval between a positive screening result and referral to a therapy-ready specialized treatment center.

PP391 Economic Analysis Of Treatment For Spinal Muscular Atrophy: A Scoping Review

2020 ◽  
Vol 36 (S1) ◽  
pp. 33-33
Author(s):  
Chengaxin Duan ◽  
Binyan Sui ◽  
Kun Zhao ◽  
Dandan Ai ◽  
Qian Xu
Keyword(s):  
Spinal Muscular Atrophy ◽  
Resource Utilization ◽  
Economic Burden ◽  
Impact Analysis ◽  
Muscular Atrophy ◽  
Financial Burden ◽  
Medical Costs ◽  
The United States ◽  
Cochrane Library ◽  
Economic Evaluations

IntroductionSpinal muscular atrophy (SMA) is a rare, life-threatening, and seriously debilitating neuromuscular disorder, which has a heavy burden on patients, caregivers and the health system. Technological advances have improved clinical effect, but have also increased the financial burden. There is limited information in the literature on the resource utilization and economic burden of SMA. Our research aims to summarize the current literature on resource use, cost and economic evaluations of treatments for SMA, to inform further research and policy decision making.MethodsDatabases, including PubMed, Embase, Cochrane Library and CRD Database, were searched from inception. Two reviewers undertook title and abstract screening followed by full-text screening, and any disagreement was resolved in consensus. Data extraction was conducted using a customized form. Included studies were summarized using narrative synthesis structured around general and economic characteristics. Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were adhered to where applicable.ResultsWe reviewed 552 abstracts and included twenty-six from 2015 to 2019. Four-fifths were published in the United States and Europe. Five full economic evaluations and one budget impact analysis compared nusinersen with AVXS-101 or best supportive care, and the remaining evaluated the economic burden of SMA. The most common outcomes were healthcare resource utilization and direct medical costs, only a few studies evaluated direct non-medical costs or indirect cost.ConclusionsSMA patients have significant medical expenditures and high utilization of healthcare services, including nusinersen-treated patients. The results highlight the substantial burden of treatment for SMA, not only for patients but also for their caregivers. SMA represents a significant hidden cost that society should be made aware of, and that should be considered in the design, implementation and evaluation of support programs for people who suffer from this disease and their families, as well as in the economic evaluation of new treatments.

scholarly journals The impact of scoliosis surgery on pulmonary function in spinal muscular atrophy: a systematic review

2021 ◽  
Author(s):  
Abduljabber Alhammoud ◽  
Yahya Othman ◽  
Ron El-Hawary ◽  
William G. Mackenzie ◽  
Jason J. Howard
Keyword(s):  
Pulmonary Function ◽  
Spinal Muscular Atrophy ◽  
Primary Outcome ◽  
Muscular Atrophy ◽  
Scoliosis Surgery ◽  
Inclusion Criteria ◽  
Rate Of Decline ◽  
The Impact ◽  
Function Testing

AbstractScoliosis often occurs coincident with pulmonary function deterioration in spinal muscular atrophy but a causal relationship has not yet been reliably established. A systematic literature review was performed, with pulmonary function testing being the primary outcome pre- and post-scoliosis surgery. Levels of evidence were determined and GRADE recommendations made. Ninety studies were identified with only 14 meeting inclusion criteria. Four studies were level III and the rest were level IV evidence. The average age at surgical intervention was 11.8 years (follow-up 6.1 years). Post-operative pulmonary function progressively declined for the majority of studies. Otherwise, pulmonary function: improved (two studies), were unchanged (two studies), had a decreased rate of decline (three studies), declined initially then returned to baseline (two studies). Respiratory and spine-based complications were common. Given the available evidence, the following GRADE C recommendations were made: (1) surgery is most often associated with decreases in pulmonary function; (2) the impact of surgery on pulmonary function is variable, but does not improve over pre-operative baseline; (3) surgery may result in a decreased rate of decline in pulmonary function post-operatively. Given this lack of evidence-based support, the risk–benefit balance should be taken into consideration when contemplating scoliosis surgery.

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