Evaluation of Fanconi Syndrome and Cystinosis - Full Text View

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