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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Universitätsklinikum Hamburg-Eppendorf
ClinicalTrials.gov Identifier:
NCT01252901
First received: December 1, 2010
Last updated: May 27, 2015
Last verified: May 2015
  Purpose
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.

Condition
Denys-Drash Syndrome
Frasier Syndrome
Nephrotic Syndrome
Wilms Tumor

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Registry for Patients With WT1 Mutation Associated Diseases

Resource links provided by NLM:


Further study details as provided by Universitätsklinikum Hamburg-Eppendorf:

Enrollment: 52
Study Start Date: October 2010
Study Completion Date: June 2014
Primary Completion Date: November 2013 (Final data collection date for primary outcome measure)
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.
  Eligibility

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with WT1 mutation
Criteria

Inclusion Criteria:

  • Germline mutation in WT1 gene

Exclusion Criteria:

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01252901

Locations
Germany
Universitätskrankenhaus Hamburg-Eppendorf
Hamburg, Germany
Sponsors and Collaborators
Universitätsklinikum Hamburg-Eppendorf
Investigators
Principal Investigator: Anja Lehnhardt, MD Universitätsklinikum Hamburg-Eppendorf
  More Information

Additional Information:
Publications:

Responsible Party: Universitätsklinikum Hamburg-Eppendorf
ClinicalTrials.gov Identifier: NCT01252901     History of Changes
Other Study ID Numbers: WT1 Registry 
Study First Received: December 1, 2010
Last Updated: May 27, 2015
Health Authority: Germany: Ethics Commission

Keywords provided by Universitätsklinikum Hamburg-Eppendorf:
WT1
Wilms Tumor
Denys-Drash Syndrome
Nephrotic Syndrome
Proteinuria

Additional relevant MeSH terms:
Denys-Drash Syndrome
Syndrome
Wilms Tumor
Nephrotic Syndrome
Nephrosis
Frasier Syndrome
Disease
Pathologic Processes
Neoplasms, Complex and Mixed
Neoplasms by Histologic Type
Neoplasms
Kidney Neoplasms
Urologic Neoplasms
Urogenital Neoplasms
Neoplasms by Site
Neoplastic Syndromes, Hereditary
Kidney Diseases
Urologic Diseases
Genetic Diseases, Inborn
46, XY Disorders of Sex Development
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Gonadal Disorders
Endocrine System Diseases
Kidney Failure, Chronic
Renal Insufficiency, Chronic
Renal Insufficiency

ClinicalTrials.gov processed this record on September 30, 2016