Studies in Porphyria I: Characterization of Enzyme Defects
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|ClinicalTrials.gov Identifier: NCT00004331|
Recruitment Status : Unknown
Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was: Recruiting
First Posted : October 19, 1999
Last Update Posted : June 24, 2005
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.
|Condition or disease|
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.
|Study Type :||Observational|
|Estimated Enrollment :||25 participants|
|Study Start Date :||November 1992|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004331
|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|