Evaluation of Fanconi Syndrome and Cystinosis

This study has been completed.

First Received: October 18, 1999 Last Updated: June 23, 2005 History of Changes

Sponsor:	National Center for Research Resources (NCRR)
Collaborator:	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

Study Type:	Observational
Study Design:	Primary Purpose: Screening

Resource links provided by NLM:

Genetics Home Reference related topics: cystinosis Schindler disease

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

Contacts and Locations

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

Sponsors and Collaborators

University of California, San Diego

Investigators

Study Chair:

Jerry A. Schneider

University of California, San Diego

More Information

No publications provided

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

Keywords provided by Office of Rare Diseases (ORD):

Fanconi syndrome
cystinosis
rare disease
renal and genitourinary disorders

Additional relevant MeSH terms:

Cystinosis
Metabolism, Inborn Errors
Metabolic Diseases
Urologic Diseases
Genetic Diseases, Inborn

Lysosomal Storage Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Fanconi Syndrome

ClinicalTrials.gov processed this record on March 18, 2010