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

The recruitment status of this study is unknown because the information has not been verified recently.

Verified December 2010 by Universitätsklinikum Hamburg-Eppendorf.
Recruitment status was Recruiting

Sponsor:

Collaborators:

GPN German Society for Paediatric Nephrology

DSD Disorders of Sex Development Network

GPOH German Society for Paediatric Oncology and Haematology

Information provided by:

Universitätsklinikum Hamburg-Eppendorf

ClinicalTrials.gov Identifier:

NCT01252901

First received: December 1, 2010

Last updated: December 2, 2010

Last verified: December 2010

History of Changes

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, 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 genotyp-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:

Genetics Home Reference related topics: Denys-Drash syndrome Frasier syndrome persistent Müllerian duct syndrome

MedlinePlus related topics: Cancer Wilms' Tumor

U.S. FDA Resources

Further study details as provided by Universitätsklinikum Hamburg-Eppendorf:

Estimated Enrollment:	70
Study Start Date:	October 2010
Estimated Primary Completion Date:	April 2011 (Final data collection date for primary outcome measure)

Eligibility

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:

none

Contacts and Locations

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

Contacts

Contact: Anja Lehnhardt, MD	+49-40-741051200	A.Lehnhardt@uke.de
Contact: Gabriele Holst, MA	+49-40-741051293	holst@uke.de

Locations

Germany
Universitätskrankenhaus Hamburg-Eppendorf	Recruiting
Hamburg, Germany

Sponsors and Collaborators

Universitätsklinikum Hamburg-Eppendorf

GPN German Society for Paediatric Nephrology

DSD Disorders of Sex Development Network

GPOH German Society for Paediatric Oncology and Haematology

Investigators

Principal Investigator:

Anja Lehnhardt, MD

Universitätsklinikum Hamburg-Eppendorf

More Information

Additional Information:

University Medical Center Hamburg-Eppendorf This link exits the ClinicalTrials.gov site

Gesellschaft für Pädiatrische Nephrologie This link exits the ClinicalTrials.gov site

DSD Network for Disorders of Sex Development This link exits the ClinicalTrials.gov site

Das Informationsportal der Gesellschaft für Pädiatrische Onkologie und Hämatologie This link exits the ClinicalTrials.gov site

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. No abstract available.

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:	Anja Lehnhardt, MD, University Medical Center Hamburg-Eppendorf
ClinicalTrials.gov Identifier:	NCT01252901 History of Changes
Other Study ID Numbers:	WT1 Registry
Study First Received:	December 1, 2010
Last Updated:	December 2, 2010
Health Authority:	Germany: Ethics Commission

Keywords provided by Universitätsklinikum Hamburg-Eppendorf:

WT1
Wilms Tumor
Denys-Drash Syndrome
Nephrotic Syndrome
Proteinuria

Additional relevant MeSH terms:

Wilms Tumor
Nephrotic Syndrome
Denys-Drash Syndrome
Frasier Syndrome
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
Nephrosis
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 June 18, 2013

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