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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: December 9, 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)
  Purpose

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
Porphyria

Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:


Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment: 25
Study Start Date: November 1992
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.

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • Suspected or confirmed porphyria
  • Adults, children, and family members eligible
  Contacts and Locations
Information from the National Library of Medicine

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


Locations
United States, Texas
University of Texas Medical Branch Recruiting
Galveston, Texas, United States, 77555-1109
Contact: Karl Elmo Anderson    409-772-4661      
Sponsors and Collaborators
National Center for Research Resources (NCRR)
University of Texas
Investigators
Study Chair: Karl Elmo Anderson University of Texas
  More Information

ClinicalTrials.gov Identifier: NCT00004331     History of Changes
Other Study ID Numbers: 199/11888
UTMB-399
First Submitted: October 18, 1999
First Posted: October 19, 1999
Last Update Posted: December 9, 2005
Last Verified: December 2003

Keywords provided by National Center for Research Resources (NCRR):
inborn errors of metabolism
porphyria
rare disease

Additional relevant MeSH terms:
Porphyrias
Porphyria, Erythropoietic
Metabolic Diseases
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases