Evaluation of Fanconi Syndrome and Cystinosis

NCT00004350 | Completed

• 2 other identifiers: 199/11911UCSD-012
• Study Type: observational
• Target: 12
• Locations: 0 countries
• Sites: N/A

Brief Summary

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

Conditions

Cystinosis; Fanconi Syndrome

Keywords

Fanconi syndrome; cystinosis; rare disease; renal and genitourinary disorders

Eligibility Criteria

• Age: 0 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

* Inherited renal tubular defects, i.e., Fanconi syndrome * Fanconi syndrome due to cystinosis eligible

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Center for Research Resources (NCRR): lead
• University of California, San Diego: collaborator

MeSH Terms

Conditions

Cystinosis; Fanconi Syndrome; Rare Diseases; Urogenital Diseases

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Jerry A. Schneider

  University of California, San Diego

  STUDY CHAIR

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: October 18, 1999
• First Posted: October 19, 1999
• Study Start: October 1, 1999
• Last Updated: June 24, 2005

Record last verified: 1999-12