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Brief Title: Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases
Official Title: Registry for Patients With WT1 Mutation Associated Diseases
Study ID: NCT01252901
Brief Summary: 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.
Detailed Description: 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.
Minimum Age:
Eligible Ages: CHILD, ADULT, OLDER_ADULT
Sex: ALL
Healthy Volunteers: No
Universitätskrankenhaus Hamburg-Eppendorf, Hamburg, , Germany
Name: Anja Lehnhardt, MD
Affiliation: Universitätsklinikum Hamburg-Eppendorf
Role: PRINCIPAL_INVESTIGATOR