Evaluation of Fanconi Syndrome and Cystinosis

National Center for Research Resources (NCRR)

Status: Completed

Conditions: Fanconi Syndrome; Cystinosis

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00004350

UCSD-012

199/11911

Details and patient eligibility

About

OBJECTIVES:

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

Full description

PROTOCOL OUTLINE:

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

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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