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Trial record 1 of 2 for:    "Denys-Drash syndrome"
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Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01252901
Recruitment Status : Completed
First Posted : December 3, 2010
Last Update Posted : May 28, 2015
Sponsor:
Information provided by (Responsible Party):

Study Description
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.

Condition or disease
Denys-Drash Syndrome Frasier Syndrome Nephrotic Syndrome Wilms Tumor

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.

Study Design

Study Type : Observational
Actual Enrollment : 52 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Registry for Patients With WT1 Mutation Associated Diseases
Study Start Date : October 2010
Primary Completion Date : November 2013
Study Completion Date : June 2014


Groups and Cohorts


Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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
First Posted: December 3, 2010    Key Record Dates
Last Update Posted: May 28, 2015
Last Verified: May 2015

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