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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
  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

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • Suspected or confirmed porphyria
  • Adults, children, and family members eligible
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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
University of Texas
Investigators
Study Chair: Karl Elmo Anderson University of Texas
  More Information

No publications provided

ClinicalTrials.gov Identifier: NCT00004331     History of Changes
Other Study ID Numbers: 199/11888, UTMB-399
Study First Received: October 18, 1999
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

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

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

ClinicalTrials.gov processed this record on November 20, 2014