Status:
COMPLETED
Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
May-Hemalin
Fechtner Syndrome (Disorder)
Eligibility:
All Genders
Brief 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 ...
Detailed Description
Definition: Extended description of the protocol, including information not already contained in other fields, such as comparison(s) studied. The patients that will participate in the study will be su...
Eligibility Criteria
Inclusion
- Thrombocytopenia with large/giant platelets (macrothrombocytopenia=MT)
- and at least one of the following criteria:
- chronicity of the MT or MT at least found at 2 successive examinations
- Leukocyte inclusions in polymorphonuclear neutrophils
- Juvenile sensorineural hearing loss
- Nephritis
- Presenile cataracts
- Familial cases with bleeding disorder associated at least with one of the following symptoms: thrombocytopenia, nephritis, cataracts, deafness, leukocyte inclusions in polymorphonuclear neutrophils
- Patient who has given his consent
- Patient who has a social insurance -
Exclusion
- Other proven constitutional macrothrombocytopenia
Key Trial Info
Start Date :
August 1 2009
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
July 1 2015
Estimated Enrollment :
360 Patients enrolled
Trial Details
Trial ID
NCT00925236
Start Date
August 1 2009
End Date
July 1 2015
Last Update
July 29 2015
Active Locations (1)
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1
Hôpital Robert Debré
Paris, France, 75019