Studies in Porphyria I: Characterization of Enzyme Defects

The recruitment status of this study is unknown because the information has not been verified recently.
Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was  Recruiting
Sponsor:
Collaborator:
University of Texas
Information provided by:
National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:
NCT00004331
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: December 2003

October 18, 1999
June 23, 2005
November 1992
Not Provided
Not Provided
Not Provided
Complete list of historical versions of study NCT00004331 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Studies in Porphyria I: Characterization of Enzyme Defects
Not Provided

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
Not Provided
Not Provided
Not Provided
Not Provided
Porphyria
Not Provided
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
25
Not Provided
Not Provided
  • Suspected or confirmed porphyria
  • Adults, children, and family members eligible
Both
Not Provided
No
Not Provided
United States
 
NCT00004331
199/11888, UTMB-399
Not Provided
Not Provided
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

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP