Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 360
- 试验地点
- 1
- 主要终点
- Study of the correlations phenotype - MYH9 genotype of the patients
研究概览
简要总结
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.
详细描述
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 suffering or suspected suffering from MYH9 syndrome.
The study of MYH9 gene will be proposed to the patients but also to both parents of the propositi and other family members (children and adults), whether symptomatic or not. The relatives who will be proved to be heterozygotes for a MYH9 mutation will be considered as new cases and therefore included in the cohort of patients.
Four groups of controls (individuals who are not affected by a decrease in the platelet count) will be constituted:
A1: controls for proplatelets production study A2: controls for platelet proteome study B: controls for MYH9 gene analysis C: controls for leukocytes immunofluorescence study
Patients Patients will be included at the 6 sites of the national Reference Center for Inherited Platelet Disorders (CRPP) after signing an informed consent form. During the visit of inclusion (V1), data usually required for the diagnosis of MYH9 syndrome will be collected: clinical examination, auditory and ocular check, blood tests including MYH9 gene analysis, and search for proteinuria.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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 -
排除标准
- •Other proven constitutional macrothrombocytopenia
结局指标
主要结局
Study of the correlations phenotype - MYH9 genotype of the patients
时间窗: final time frame at the end of the study
次要结局
- - Describe the initial clinical symptoms and the long- term evolution of MYH9-related macrothrombocytopenia - Explore the consequences of MYH9 gene mutations on the proplatelets production - Study the effects of MYH9 gene mutations on the platelet(final time frame at the end of the study)