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临床试验/NCT01252901
NCT01252901已完成不适用

Registry for Patients With WT1 Mutation Associated Diseases

Universitätsklinikum Hamburg-Eppendorf1 个研究点 分布在 1 个国家目标入组 52 人开始时间: 2010年10月最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
入组人数
52
试验地点
1

研究概览

简要总结

The Wilms' tumor suppressor gene 1 (WT1) encodes for a transcription factor which plays an important role during urogenital development. Patients carrying a WT1 germline mutation show symptoms like proteinuria, Wilms tumors, genital malformations and kidney failure. Milder variants are possible and classification is not always possible. In this registry we are collecting detailed clinical data of affected individuals to establish genotype-phenotype correlations with the greater goal to optimize patient care.

详细描述

The Wilms' tumor suppressor gene 1 (WT1) encodes for a transcription factor which plays an important role during urogenital development. Patients carrying a WT1 germline mutation show symptoms like proteinuria, Wilms tumors, genital malformations and kidney failure, which usually occur in early childhood. Milder variants are possible and classification as one of the three rare syndromes associated with WT1 mutations (Denys-Drash syndrome, Frasier syndrome or WAGR syndrome) is not always possible. In this registry we are collecting detailed clinical data of affected individuals to establish genotype-phenotype correlations with the greater goal to optimize patient care.

研究设计

研究类型
Observational
观察模型
Cohort
时间视角
Retrospective

入排标准

性别
All
接受健康志愿者

入选标准

  • Germline mutation in WT1 gene

排除标准

  • 未提供

研究者

申办方类型
Other
责任方
Sponsor

研究点 (1)

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