Evaluation of Fanconi Syndrome and Cystinosis

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ClinicalTrials.gov Identifier: NCT00004350

Recruitment Status : Completed

First Posted : October 19, 1999

Last Update Posted : June 24, 2005

Sponsor:

Collaborator:

University of California, San Diego

Information provided by:

Office of Rare Diseases (ORD)

Study Description

Brief Summary:

OBJECTIVES:

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

Condition or disease
Cystinosis Fanconi Syndrome

Detailed Description:

PROTOCOL OUTLINE:

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

Study Design


Study Type :	Observational
Enrollment :	12 participants
Primary Purpose:	Screening
Study Start Date :	October 1999

Resource links provided by the National Library of Medicine

Genetics Home Reference related topics: Fanconi anemia Cystinosis

Genetic and Rare Diseases Information Center resources: Fanconi Anemia Congenital Aplastic Anemia Fanconi Syndrome Cystinosis Nephropathic Cystinosis Primary Fanconi Syndrome

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Eligibility Criteria

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

Criteria

Inherited renal tubular defects, i.e., Fanconi syndrome
Fanconi syndrome due to cystinosis eligible

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): 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


ClinicalTrials.gov Identifier:	NCT00004350 History of Changes
Other Study ID Numbers:	199/11911 UCSD-012
First Posted:	October 19, 1999 Key Record Dates
Last Update Posted:	June 24, 2005
Last Verified:	December 1999

Keywords provided by Office of Rare Diseases (ORD):


Fanconi syndrome cystinosis rare disease renal and genitourinary disorders

Additional relevant MeSH terms:


Cystinosis Syndrome Fanconi Syndrome Fanconi Anemia Disease Pathologic Processes Lysosomal Storage Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases	Renal Tubular Transport, Inborn Errors Kidney Diseases Urologic Diseases Anemia, Hypoplastic, Congenital Anemia, Aplastic Anemia Hematologic Diseases Bone Marrow Diseases DNA Repair-Deficiency Disorders

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