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Evaluation of Fanconi Syndrome and Cystinosis

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. Identifier: NCT00004350
Recruitment Status : Completed
First Posted : October 19, 1999
Last Update Posted : June 24, 2005
University of California, San Diego
Information provided by:
Office of Rare Diseases (ORD)

Brief Summary:


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:


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

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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • Inherited renal tubular defects, i.e., Fanconi syndrome
  • Fanconi syndrome due to cystinosis eligible

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 identifier (NCT number): NCT00004350

Sponsors and Collaborators
National Center for Research Resources (NCRR)
University of California, San Diego
Study Chair: Jerry A. Schneider University of California, San Diego Identifier: NCT00004350     History of Changes
Other Study ID Numbers: 199/11911
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
rare disease
renal and genitourinary disorders

Additional relevant MeSH terms:
Fanconi Syndrome
Fanconi Anemia
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
Hematologic Diseases
Bone Marrow Diseases
DNA Repair-Deficiency Disorders