Proximale Spinale Muskelatrophie : Prävalenz der Typen I, II und III in Deutschland ; Analyse zur Realisierbarkeit einer Therapiestudie

The dissertation deals with the question, whether or not one can realize a therapy study with SMA cases in Germany, given that the cases are relatively rare. In addition a key intention is to develop a methodology for calculating the required data and to be able to apply the same methodology for similar questions apart from SMA. In the first part of the dissertation, empirical incidences are analysed and tested for suitability in this study’s context. Suitable SMA incidences are then selected and used to calculate and graphically present SMA prevalences for the year 2000, differentiating the three types of SMA. A short overview of the results: For SMA type I, a prevalence of 204 cases was derived (in 2000), based on an incidence of 1:17.633. SMA type II in Germany was assumed to have an incidence of 1:44.387, resulting in a prevalence of 1002 cases in 2000. Lastly, fort the same year a number of 1192 cases was derived for SMA type III based on a selected incidence of 1:60.448. The results are presented in pure numbers as well as in maps for all German states with regionally and locally distinguished colour depending on prevalence. In the second part of the dissertation, the results are used in a modelling exercise to calculate the potential probands participating in a fictive study of SMA cases in the neuro-pediatric centers in Hamburg, Essen, Berlin, Heidelberg and Freiburg. A 100km geographical radius around each center limits the area and hereby the potential for participating cases. Given the assumption of a 50% participating rate among SMA cases in the particular areas, the following potential proband numbers were derived: 95 cases for SMA type I, 276 cases for SMA type II and 321 cases for SMA type III. The dissertation subsequently leads into a discussion of the validity, consistency and reliability of the calculated results, which to a large degree depend on the quality of the source data, i.e. the selected incidences. The possibility of applying the same methodology to non-SMA case modelling is discussed, pointing out the critical bottleneck of scarce data availability in this context as well. With respect to the purpose of this dissertation both tasks are successfully completed: Firstly, the derived results can now form the basis of a mathematical cross check by a statistician, given that final feasibility of a SMA case study can only be assessed after defining definitive boundary conditions and including a power analysis. Secondly, a methodology for generating prevalences and creating a case model was successfully developed and presented in a way, that both prevalence generation and modelling are easily transferable to non-SMA type problems with sufficient built-in flexibility to allow individual degrees of freedom depending on the specificities of the other cases.

Grantor dc:publisher

Publikationsserver der RWTH Aachen University

Year dc:date

2009

Author dc:creator

• Plenge, Claudia

Contributors dc:contributor

• Zerres, Klaus

• info:eu-repo/classification/ddc/610
• Medizin
• Proximale Spinale Muskelatrophie
• SMA Therapiestudie
• SMA Prävalenz
• Proximal spinal muscular atrophy
• SMA prevalence
• SMA therapy study

Statement dc:rights

• info:eu-repo/semantics/openAccess

Language dc:language

ger

Identifier

https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-113291%22

OAI record oai:identifier

https://publications.rwth-aachen.de/oai2d?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Apublications.rwth-aachen.de%3A50762