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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:


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:
Syndrome
Cystinosis
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