Evaluation of Fanconi Syndrome and Cystinosis

This study has been completed.

Sponsor:

ClinicalTrials.gov Identifier:

NCT00004350

First Posted: October 19, 1999

Last Update Posted: December 9, 2005

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.

Collaborator:

University of California, San Diego

Information provided by:

Office of Rare Diseases (ORD)

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: 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

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

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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 Submitted:	October 18, 1999
First Posted:	October 19, 1999
Last Update Posted:	December 9, 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

To Top