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Evaluation of Fanconi Syndrome and Cystinosis

This study has been completed.
University of California, San Diego
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: December 1999


I. Classify renal tubular defects using clinical and biochemical findings in patients with Fanconi syndrome and 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:


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


Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
  • Inherited renal tubular defects, i.e., Fanconi syndrome
  • Fanconi syndrome due to cystinosis eligible
  Contacts and Locations
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Please refer to this study by its identifier: 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
  More Information 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
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 processed this record on October 27, 2016