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Epstein Syndrome (Disorder) clinical trials

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NCT ID: NCT00925236 Completed - Clinical trials for Fechtner Syndrome (Disorder)

Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia

MAGIC-MYH9
Start date: August 2009
Phase: N/A
Study type: Observational

The research involves the establishment of a cohort including as much as possible cases of macrothrombocytopenia related to a "MYH9 syndrome" and the study of mutations and polymorphisms of MYH9 gene in all these patients. As MYH9 syndrome is an autosomal dominant disorder, patients should be heterozygous for a MYH9 gene mutation. The main goal of our project is looking for correlations between genotype and phenotype. It is planned to characterize the phenotype and genotype of a cohort of patients, including family members that will be addressed during the study in order to better understand the platelet disorder and improve the epidemiological knowledge of MYH9 syndrome. The data will be recorded in a database.