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      Disease burden of spinal muscular atrophy in Germany

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          This study aimed at analyzing the economic burden and disease-specific health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in Germany. SMA is a so far non-curable neuromuscular disease of the anterior nerve cells that causes high rates of morbidity and mortality.


          In a cross-sectional study we analyzed the cost of illness (COI) and factors that influence the direct, indirect and informal care costs of affected patients and their families by using standardized, self-developed questionnaires. We used the PedsQL™ © Measurement Model to analyze the disease-specific HRQOL of patients.


          One hundred eighty nine patients with SMA types I to III aged <1 to 73 years were enrolled. The average annual COI was estimated at €70,566 per patient in 2013. The highest cost resulted in SMA I with significant lower costs for the milder phenotypes. Inversely, the self-estimated HRQOL increased from SMA I to SMA III. Major cost drivers were informal care cost and indirect cost incurred by patients and their caregivers.


          Although SMA requires high standards of care, there has been a distinct lack of health services research on SMA. Accordingly, our results significantly contribute to a more comprehensive insight into the current burden of SMA and quality of life status as related to SMA health services in Germany. In the light of innovative therapeutic interventions, our results suggest a notable potential for a reduction in overall COI and improvement of HRQOL if the therapeutic intervention leads to a less severe course of the disease.

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          [Empirical standard costs for health economic evaluation in Germany -- a proposal by the working group methods in health economic evaluation].

          Measurement of health care costs is a crucial task in health economic evaluation. Various guidelines with different amount of details have been set up for costing methods in economic evaluation which, however, do not precisely stipulate how to value resource consumption. In this article we present a proposal for the standardisation of the monetary valuation of health care utilisation occurring in the follow up period after the actual intervention to be evaluated. From a societal perspective the primary direct and indirect cost components are considered, such as outpatient medical care, pharmaceuticals, non-physician health services, inpatient care, days of sick leave and early retirement due to sickness. The standard costs are based on administrative charges and rates or on official statistics. They are based on the most current data sources which are mainly from 2002 and 2003. This system of standard costs aims at an average valuation of resource consumption. This makes for the comparability of different health economic studies. Most standard costs are not based on market prices but on administratively specified charges and rates. This implies that institutional changes which are quite common in the health care system, may also affect the valuation rates, for example the introduction of DRGs. This should be taken into account when updating the system of standard costs.
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            Spinal muscular atrophy

            Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. Estimated incidence is 1 in 6,000 to 1 in 10,000 live births and carrier frequency of 1/40-1/60. This disease is characterized by generalized muscle weakness and atrophy predominating in proximal limb muscles, and phenotype is classified into four grades of severity (SMA I, SMAII, SMAIII, SMA IV) based on age of onset and motor function achieved. This disease is caused by homozygous mutations of the survival motor neuron 1 (SMN1) gene, and the diagnostic test demonstrates in most patients the homozygous deletion of the SMN1 gene, generally showing the absence of SMN1 exon 7. The test achieves up to 95% sensitivity and nearly 100% specificity. Differential diagnosis should be considered with other neuromuscular disorders which are not associated with increased CK manifesting as infantile hypotonia or as limb girdle weakness starting later in life. Considering the high carrier frequency, carrier testing is requested by siblings of patients or of parents of SMA children and are aimed at gaining information that may help with reproductive planning. Individuals at risk should be tested first and, in case of testing positive, the partner should be then analyzed. It is recommended that in case of a request on carrier testing on siblings of an affected SMA infant, a detailed neurological examination should be done and consideration given doing the direct test to exclude SMA. Prenatal diagnosis should be offered to couples who have previously had a child affected with SMA (recurrence risk 25%). The role of follow-up coordination has to be managed by an expert in neuromuscular disorders and in SMA who is able to plan a multidisciplinary intervention that includes pulmonary, gastroenterology/nutrition, and orthopedic care. Prognosis depends on the phenotypic severity going from high mortality within the first year for SMA type 1 to no mortality for the chronic and later onset forms.
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              Spinal muscular atrophy--recent therapeutic advances for an old challenge.

              In the past decade, improved understanding of spinal muscular atrophy (SMA) aetiopathogenesis has brought us to a historical turning point: we are at the verge of development of disease-modifying treatments for this hitherto incurable disease. The increasingly precise delineation of molecular targets within the survival of motor neuron (SMN) gene locus has led to the development of promising therapeutic strategies. These novel avenues in treatment for SMA include gene therapy, molecular therapy with antisense oligonucleotides, and small molecules that aim to increase expression of SMN protein. Stem cell studies of SMA have provided an in vitro model for SMA, and stem cell transplantation could be used as a complementary strategy with a potential to treat the symptomatic phases of the disease. Here, we provide an overview of established data and novel insights into SMA pathogenesis, including discussion of the crucial function of the SMN protein. Preclinical evidence and recent advances from ongoing clinical trials are thoroughly reviewed. The final remarks are dedicated to future clinical perspectives in this rapidly evolving field, with a broad discussion on the comparison between the outlined therapeutic approaches and the remaining open questions.

                Author and article information

                0049-89-44005-7400 , maggie.walter@lrz.uni-muenchen.de
                Orphanet J Rare Dis
                Orphanet J Rare Dis
                Orphanet Journal of Rare Diseases
                BioMed Central (London )
                4 May 2016
                4 May 2016
                : 11
                [ ]Institute for Healthcare Management and Health Sciences, University of Bayreuth, Prieserstrasse 2, 95444 Bayreuth, Germany
                [ ]Department of Neurology, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany
                [ ]Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Ziemssenstrasse 1, 80336 Munich, Germany
                © Klug et al. 2016

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                Funded by: Friedrich-Baur-GmbH
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