Characterization of the DMD/BMD patient population in Czech Republic and Slovakia using an innovative registry approach
| Autor: | Daniel Klimeš, Petr Vondráček, Hanns Lochmüller, S. K. Baumeister, Jakub Gregor, Tomáš Pavlík, Petr Brabec |
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| Rok vydání: | 2009 |
| Předmět: |
Male
musculoskeletal diseases Czech Slovakia medicine.medical_specialty European level DNA Mutational Analysis MEDLINE Muscle Proteins 03 medical and health sciences 0302 clinical medicine Epidemiology Humans Medicine Genetic Predisposition to Disease Genetic Testing Registries Child 10. No inequality Genetics (clinical) Czech Republic 030304 developmental biology Clinical Trials as Topic 0303 health sciences business.industry Data Collection Genetic Carrier Screening Patient Selection language.human_language 3. Good health Muscular Dystrophy Duchenne Clinical trial Patient population Databases as Topic Neurology Family medicine Mutation Pediatrics Perinatology and Child Health language Physical therapy Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Neuromuscular Disorders. 19:250-254 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2009.01.005 |
| Popis: | Effective planning of clinical trials requires an appropriate number of patients who fulfil given inclusion criteria. In the case of so called “orphan” diseases, such as Duchenne and Becker muscular dystrophy (DMD/BMD), the number of suitable patients within one country is usually limited. We developed a detailed registry of Czech and Slovak DMD/BMD patients which may contribute to cooperation on the European level. The registry uses internet and database technologies with a multilevel architecture. Patients may view their own data. As of May 2008, 163 patients have been registered in the database. The registry provides a detailed phenotypic and genotypic description of patients. The main purpose of such a registry is the time-effective recruitment of eligible patients for a clinical trial or therapy and may allow the anticipation of possible future effects of appropriate therapy on individual patients. The importance of the DMD/BMD patient registries has recently also been rising with new clinical trials focused on mutation-specific approaches. Other outputs include assessment of epidemiology, phenotype and genotype relationships, or standards of care. |
| Databáze: | OpenAIRE |
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