Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS) - registry Swabia
<p>Abstract</p> <p>Background</p> <p>The social and medical impact of rare diseases is increasingly recognized. Amyotrophic lateral sclerosis (ALS) is the most prevalent of the motor neuron diseases. It is characterized by rapidly progressive damage to the motor neurons...
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| Format: | Article |
| Language: | English |
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BMC
2013-02-01
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| Series: | BMC Neurology |
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| Online Access: | http://www.biomedcentral.com/1471-2377/13/22 |
| _version_ | 1819053627533164544 |
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| author | Nagel Gabriele Ünal Hatice Rosenbohm Angela Ludolph Albert C Rothenbacher Dietrich |
| author_facet | Nagel Gabriele Ünal Hatice Rosenbohm Angela Ludolph Albert C Rothenbacher Dietrich |
| author_sort | Nagel Gabriele |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>The social and medical impact of rare diseases is increasingly recognized. Amyotrophic lateral sclerosis (ALS) is the most prevalent of the motor neuron diseases. It is characterized by rapidly progressive damage to the motor neurons with a survival of 2–5 years for the majority of patients. The objective of this work is to describe the study protocol and the implementation steps of the amyotrophic lateral sclerosis (ALS) registry Swabia, located in the South of Germany.</p> <p>Methods/Design</p> <p>The ALS registry Swabia started in October 2010 with both, the retrospective (01.10.2008-30.09.2010) and prospective (from 01.10.2010) collection of ALS cases, in a target population of 8.6 million persons in Southern Germany. In addition, a population based case–control study was implemented based on the registry that also included the collection of various biological materials.</p> <p>Retrospectively, 420 patients (222 men and 198 women) were identified. Prospectively data of ALS patients were collected, of which about 70% agreed to participate in the population-based case–control study. All participants in the case–control study provided also a blood sample. The prospective part of the study is ongoing.</p> <p>Discussion</p> <p>The ALS registry Swabia has been implemented successfully. In rare diseases such as ALS, the collaboration of registries, the comparison with external samples and biorepositories will facilitate to identify risk factors and to further explore the potential underlying pathophysiological mechanisms.</p> |
| first_indexed | 2024-12-21T12:38:44Z |
| format | Article |
| id | doaj.art-6c60f0d3f619404591bd3298e97798ae |
| institution | Directory Open Access Journal |
| issn | 1471-2377 |
| language | English |
| last_indexed | 2024-12-21T12:38:44Z |
| publishDate | 2013-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Neurology |
| spelling | doaj.art-6c60f0d3f619404591bd3298e97798ae2022-12-21T19:03:51ZengBMCBMC Neurology1471-23772013-02-011312210.1186/1471-2377-13-22Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS) - registry SwabiaNagel GabrieleÜnal HaticeRosenbohm AngelaLudolph Albert CRothenbacher Dietrich<p>Abstract</p> <p>Background</p> <p>The social and medical impact of rare diseases is increasingly recognized. Amyotrophic lateral sclerosis (ALS) is the most prevalent of the motor neuron diseases. It is characterized by rapidly progressive damage to the motor neurons with a survival of 2–5 years for the majority of patients. The objective of this work is to describe the study protocol and the implementation steps of the amyotrophic lateral sclerosis (ALS) registry Swabia, located in the South of Germany.</p> <p>Methods/Design</p> <p>The ALS registry Swabia started in October 2010 with both, the retrospective (01.10.2008-30.09.2010) and prospective (from 01.10.2010) collection of ALS cases, in a target population of 8.6 million persons in Southern Germany. In addition, a population based case–control study was implemented based on the registry that also included the collection of various biological materials.</p> <p>Retrospectively, 420 patients (222 men and 198 women) were identified. Prospectively data of ALS patients were collected, of which about 70% agreed to participate in the population-based case–control study. All participants in the case–control study provided also a blood sample. The prospective part of the study is ongoing.</p> <p>Discussion</p> <p>The ALS registry Swabia has been implemented successfully. In rare diseases such as ALS, the collaboration of registries, the comparison with external samples and biorepositories will facilitate to identify risk factors and to further explore the potential underlying pathophysiological mechanisms.</p>http://www.biomedcentral.com/1471-2377/13/22Amyotrophic lateral sclerosisRegistryRisk factors |
| spellingShingle | Nagel Gabriele Ünal Hatice Rosenbohm Angela Ludolph Albert C Rothenbacher Dietrich Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS) - registry Swabia BMC Neurology Amyotrophic lateral sclerosis Registry Risk factors |
| title | Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS) - registry Swabia |
| title_full | Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS) - registry Swabia |
| title_fullStr | Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS) - registry Swabia |
| title_full_unstemmed | Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS) - registry Swabia |
| title_short | Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis (ALS) - registry Swabia |
| title_sort | implementation of a population based epidemiological rare disease registry study protocol of the amyotrophic lateral sclerosis als registry swabia |
| topic | Amyotrophic lateral sclerosis Registry Risk factors |
| url | http://www.biomedcentral.com/1471-2377/13/22 |
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