Evaluation of Fanconi Syndrome and Cystinosis

This study has been completed.
University of California, San Diego
Information provided by:
Office of Rare Diseases (ORD)
ClinicalTrials.gov 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.


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
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
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
rare disease
renal and genitourinary disorders

Additional relevant MeSH terms:
Fanconi Anemia
Fanconi Syndrome
Anemia, Aplastic
Anemia, Hypoplastic, Congenital
Bone Marrow Diseases
DNA Repair-Deficiency Disorders
Genetic Diseases, Inborn
Hematologic Diseases
Kidney Diseases
Lysosomal Storage Diseases
Metabolic Diseases
Metabolism, Inborn Errors
Renal Tubular Transport, Inborn Errors
Urologic Diseases

ClinicalTrials.gov processed this record on May 03, 2016