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Evaluation of Fanconi Syndrome and Cystinosis

This study has been completed.

Sponsors and Collaborators: National Center for Research Resources (NCRR)
University of California, San Diego
Information provided by: Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier: NCT00004350
  Purpose

OBJECTIVES:

I. Classify renal tubular defects using clinical and biochemical findings in patients with Fanconi syndrome and cystinosis.


Condition
Cystinosis
Fanconi Syndrome

Genetics Home Reference related topics:   cystinosis   

U.S. FDA Resources

Study Type:   Observational
Study Design:   Screening

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment:   12
Study Start Date:   October 1999

Detailed Description:

PROTOCOL OUTLINE:

Patients receive a clinical and biochemical evaluation, including a psychometric assessment and molecular, renal, and thyroid studies.

  Eligibility
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Criteria
  • Inherited renal tubular defects, i.e., Fanconi syndrome
  • Fanconi syndrome due to cystinosis eligible
  Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004350

Sponsors and Collaborators
National Center for Research Resources (NCRR)
University of California, San Diego

Investigators
Study Chair:     Jerry A. Schneider     University of California, San Diego    
  More Information


Study ID Numbers:   199/11911, UCSD-012
First Received:   October 18, 1999
Last Updated:   June 23, 2005
ClinicalTrials.gov Identifier:   NCT00004350
Health Authority:   United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
Fanconi syndrome  
cystinosis  
rare disease  
renal and genitourinary disorders  

Study placed in the following topic categories:
Cystinosis
Metabolism, Inborn Errors
Metabolic Diseases
Nephropathic cystinosis
Urologic Diseases
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Fanconi renotubular syndrome
Rare Diseases
Kidney Diseases
Fanconi Syndrome
Metabolic disorder

Additional relevant MeSH terms:
Pathologic Processes
Disease
Syndrome
Renal Tubular Transport, Inborn Errors

ClinicalTrials.gov processed this record on November 20, 2008




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