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: Fanconi anemia Schindler disease cystinosis

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


Ages Eligible for Study:	Child, Adult, Senior
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


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 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

ClinicalTrials.gov processed this record on September 23, 2016

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