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

NCT00925236 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 360

Last updated 2015-07-29

No results posted yet for this study

Summary

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.

Conditions

  • May-Hemalin
  • Fechtner Syndrome (Disorder)
  • Epstein Syndrome (Disorder)
  • MYH9 Related Disorders

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Nicole Schlegel, MD,PhD · Assistance Publique - Hôpitaux de Paris

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2009-08-31
Primary Completion
2015-07-31
Completion
2015-07-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00925236 on ClinicalTrials.gov