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Studies in Porphyria I: Characterization of Enzyme Defects

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was:  Recruiting
Sponsor:
ClinicalTrials.gov Identifier:
NCT00004331
First Posted: October 19, 1999
Last Update Posted: June 24, 2005
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborator:
University of Texas
Information provided by:
National Center for Research Resources (NCRR)
October 18, 1999
October 19, 1999
June 24, 2005
November 1992
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No Changes Posted
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Studies in Porphyria I: Characterization of Enzyme Defects
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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.

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.

Observational
Primary Purpose: Screening
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Porphyria
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Unknown status
25
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  • Suspected or confirmed porphyria
  • Adults, children, and family members eligible
Sexes Eligible for Study: All
Child, Adult, Senior
No
Contact information is only displayed when the study is recruiting subjects
United States
 
 
NCT00004331
199/11888
UTMB-399
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National Center for Research Resources (NCRR)
University of Texas
Study Chair: Karl Elmo Anderson University of Texas
National Center for Research Resources (NCRR)
December 2003