Expired Study
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Galveston, Texas 77555


Purpose:

OBJECTIVES: I. Characterize enzyme defects in patients with known or suspected porphyria and their family members. II. Determine whether selected patients are eligible for other porphyria research protocols. III. Provide blood, urine, and fecal samples from well characterized patients and their family members to investigators studying the nature of specific mutations in genes for heme biosynthetic pathway enzymes.


Study summary:

PROTOCOL OUTLINE: All patients are evaluated for porphyria type and factors contributing to the clinical expression of their particular form of the disease. Testing includes erythrocyte porphobilinogen deaminase, erythrocyte protoporphyrin, plasma porphyrins, and urinary and fecal porphyrins and precursors. Selected patients are entered into other porphyrin research protocols in this and other institutions, including analysis of DNA to identify specific mutations in genes for heme biosynthetic pathway enzymes.


Criteria:

- Suspected or confirmed porphyria - Adults, children, and family members eligible


NCT ID:

NCT00004331


Primary Contact:

Study Chair
Karl Elmo Anderson
University of Texas


Backup Contact:

N/A


Location Contact:

Galveston, Texas 77555
United States

Karl Elmo Anderson
Phone: 409-772-4661

Site Status: Recruiting


Data Source: ClinicalTrials.gov

Date Processed: September 23, 2017

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