Evaluation of Fanconi Syndrome and Cystinosis

This study has been completed.

Sponsor:

Collaborator:

University of California, San Diego

Information provided by:

Office of Rare Diseases (ORD)

ClinicalTrials.gov Identifier:

NCT00004350

First received: October 18, 1999

Last updated: June 23, 2005

Last verified: December 1999

History of Changes

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 Fanconi anemia Schindler disease

Genetic and Rare Diseases Information Center resources: Congenital Aplastic Anemia Cystinosis Fanconi Anemia Nephropathic Cystinosis Toni-Debre-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


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

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, see Learn About Clinical Studies.

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

No publications provided


ClinicalTrials.gov Identifier:	NCT00004350 History of Changes
Other Study ID Numbers:	199/11911, UCSD-012
Study First Received:	October 18, 1999
Last Updated:	June 23, 2005
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 Fanconi Anemia Fanconi Syndrome Syndrome Anemia Anemia, Aplastic Anemia, Hypoplastic, Congenital Bone Marrow Diseases DNA Repair-Deficiency Disorders Disease	Genetic Diseases, Inborn Hematologic Diseases Kidney Diseases Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Pathologic Processes Renal Tubular Transport, Inborn Errors Urologic Diseases

ClinicalTrials.gov processed this record on February 27, 2015

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