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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01252901
First Posted: December 3, 2010
Last Update Posted: May 28, 2015
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.
Information provided by (Responsible Party):
Universitätsklinikum Hamburg-Eppendorf
  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

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:
Royer-Pokora B, Beier M, Henzler M, Alam R, Schumacher V, Weirich A, Huff V. Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development. Am J Med Genet A. 2004 Jun 15;127A(3):249-57.
Mucha B, Ozaltin F, Hinkes BG, Hasselbacher K, Ruf RG, Schultheiss M, Hangan D, Hoskins BE, Everding AS, Bogdanovic R, Seeman T, Hoppe B, Hildebrandt F; Members of the APN Study Group. Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr Res. 2006 Feb;59(2):325-31.
Ruf RG, Schultheiss M, Lichtenberger A, Karle SM, Zalewski I, Mucha B, Everding AS, Neuhaus T, Patzer L, Plank C, Haas JP, Ozaltin F, Imm A, Fuchshuber A, Bakkaloglu A, Hildebrandt F; APN Study Group. Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int. 2004 Aug;66(2):564-70.
Kist-van Holthe JE, Ho PL, Stablein D, Harmon WE, Baum MA. Outcome of renal transplantation for Wilms' tumor and Denys-Drash syndrome: a report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Transplant. 2005 Jun;9(3):305-10.
Aucella F, Bisceglia L, De Bonis P, Gigante M, Caridi G, Barbano G, Mattioli G, Perfumo F, Gesualdo L, Ghiggeri GM. WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. Pediatr Nephrol. 2006 Oct;21(10):1393-8. Epub 2006 Aug 15.
Chesney RW. Why is the oncogene WT1 in the developing kidney and what is it doing there? Pediatr Nephrol. 2002 Dec;17(12):990-2. Epub 2002 Oct 1.
Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Hum Mol Genet. 1998 Apr;7(4):709-14.
Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, et al. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell. 1991 Oct 18;67(2):437-47.

Responsible Party: Universitätsklinikum Hamburg-Eppendorf
ClinicalTrials.gov Identifier: NCT01252901     History of Changes
Other Study ID Numbers: WT1 Registry
First Submitted: December 1, 2010
First Posted: December 3, 2010
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:
Syndrome
Wilms Tumor
Nephrotic Syndrome
Nephrosis
Denys-Drash Syndrome
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


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