Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases

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.

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Key information

Conditions

Denys-Drash Syndrome Chronic Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Disorder of Sex Development, 46,XY Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Frasier Syndrome Genetic Diseases, Inborn Gonadal Disorders Kidney Diseases Kidney Failure, Chronic Kidney Neoplasms Male Urogenital Diseases Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Complex and Mixed Neoplastic Syndromes, Hereditary Nephrosis Nephrotic Syndrome Pathologic Processes Pathological Conditions, Signs and Symptoms Proteinuria Renal Insufficiency Renal Insufficiency, Chronic Signs and Symptoms Urination Disorders Urogenital Abnormalities Urogenital Diseases Urogenital Neoplasms Urologic Diseases Urologic Neoplasms Urological Manifestations Wilms Tumor

Sex eligibility

All sexes

Study type

Observational

Primary location

Universitätskrankenhaus Hamburg-Eppendorf

Hamburg, Germany

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Germline mutation in WT1 gene

Exclusion criteria

none

Sponsors and collaborators

Lead sponsor

Universitätsklinikum Hamburg-Eppendorf

Other

Registry information

Official study title

Registry for Patients With WT1 Mutation Associated Diseases

Important dates

Study start: 2010
Primary completion: 2013
Study completion: 2014
First posted: Dec 3, 2010
Registry last updated: May 28, 2015

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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