Evaluation of Fanconi Syndrome and Cystinosis
OBJECTIVES:
I. Classify renal tubular defects using clinical and biochemical findings in patients with Fanconi syndrome and cystinosis.
Study Overview
Status
Status
Conditions
Conditions
Detailed Description
PROTOCOL OUTLINE:
Patients receive a clinical and biochemical evaluation, including a psychometric assessment and molecular, renal, and thyroid studies.
Study Type
Study Type
Enrollment
Enrollment
Participation Criteria
Eligibility Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
- Inherited renal tubular defects, i.e., Fanconi syndrome
- Fanconi syndrome due to cystinosis eligible
Study Plan
How is the study designed?
Collaborators and Investigators
Sponsor
Sponsor
Collaborators
Collaborators
Investigators
Investigators
- Study Chair: Jerry A. Schneider, University of California, San Diego
Study record dates
Study Major Dates
Study Start
Study Start
Study Registration Dates
First Submitted
First Submitted
First Submitted That Met QC Criteria
First Submitted That Met QC Criteria
First Posted (Estimate)
First Posted
Study Record Updates
Last Update Posted (Estimate)
Last Update Posted
Last Update Submitted That Met QC Criteria
Last Update Submitted That Met QC Criteria
Last Verified
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Pathologic Processes
- Metabolic Diseases
- Kidney Diseases
- Urologic Diseases
- Disease
- Bone Marrow Diseases
- Hematologic Diseases
- Genetic Diseases, Inborn
- Anemia
- Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- DNA Repair-Deficiency Disorders
- Anemia, Hypoplastic, Congenital
- Anemia, Aplastic
- Congenital Bone Marrow Failure Syndromes
- Bone Marrow Failure Disorders
- Renal Tubular Transport, Inborn Errors
- Syndrome
- Fanconi Syndrome
- Fanconi Anemia
- Cystinosis
Other Study ID Numbers
Other Study ID Numbers
- 199/11911
- UCSD-012
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