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Studies in Porphyria I: Characterization of Enzyme Defects

Sponsor
National Center for Research Resources (NCRR) (NIH)
Overall Status
Unknown status
CT.gov ID
NCT00004331
Collaborator
University of Texas (Other)
25
Enrollment
1
Location

Study Details

Study Description

Brief Summary

OBJECTIVES: I. Characterize enzyme defects in patients with known or suspected porphyria and their family members.

  1. Determine whether selected patients are eligible for other porphyria research protocols.

  2. 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 Intervention/Treatment Phase

    Detailed Description

    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 Design

    Study Type:
    Observational
    Study Start Date :
    Nov 1, 1992

    Outcome Measures

    Primary Outcome Measures

      Eligibility Criteria

      Criteria

      Ages Eligible for Study:
      0 Years and Older
      Sexes Eligible for Study:
      All
      Accepts Healthy Volunteers:
      No

      • Suspected or confirmed porphyria

      • Adults, children, and family members eligible

      Contacts and Locations

      Locations

      Site City State Country Postal Code
      1 University of Texas Medical Branch Galveston Texas United States 77555-1109

      Sponsors and Collaborators

      • National Center for Research Resources (NCRR)
      • University of Texas

      Investigators

      • Study Chair: Karl Elmo Anderson, University of Texas

      Study Documents (Full-Text)

      None provided.

      More Information

      Publications

      None provided.
      Responsible Party:
      , ,
      ClinicalTrials.gov Identifier:
      NCT00004331
      Other Study ID Numbers:
      • 199/11888
      • UTMB-399
      First Posted:
      Oct 19, 1999
      Last Update Posted:
      Jun 24, 2005
      Last Verified:
      Dec 1, 2003
      Keywords provided by , ,
      inborn errors of metabolism
      porphyria
      rare disease
      Additional relevant MeSH terms:
      Porphyria, Erythropoietic
      Porphyrias

      Study Results

      No Results Posted as of Jun 24, 2005