Studies in Porphyria I: Characterization of Enzyme Defects
Recruitment status was Recruiting
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 Design:||Primary Purpose: Screening|
|Study Start Date:||November 1992|
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.
|United States, Texas|
|University of Texas Medical Branch||Recruiting|
|Galveston, Texas, United States, 77555-1109|
|Contact: Karl Elmo Anderson 409-772-4661|
|Study Chair:||Karl Elmo Anderson||University of Texas|