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

History of Changes

Tracking Information

First Received Date ^ICMJE

October 18, 1999

Last Updated Date

June 23, 2005

Start Date ^ICMJE

November 1992

Primary Completion Date

Not Provided

Current Primary Outcome Measures ^ICMJE

Not Provided

Original Primary Outcome Measures ^ICMJE

Not Provided

Change History

Complete list of historical versions of study NCT00004331 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Not Provided

Original Secondary Outcome Measures ^ICMJE

Not Provided

Current Other Outcome Measures ^ICMJE

Not Provided

Original Other Outcome Measures ^ICMJE

Not Provided

Descriptive Information

Brief Title ^ICMJE

Studies in Porphyria I: Characterization of Enzyme Defects

Official Title ^ICMJE

Not Provided

Brief Summary

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.

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 Type ^ICMJE

Observational

Study Design ^ICMJE

Primary Purpose: Screening

Target Follow-Up Duration

Not Provided

Biospecimen

Not Provided

Sampling Method

Not Provided

Study Population

Not Provided

Condition ^ICMJE

Porphyria

Intervention ^ICMJE

Not Provided

Study Group/Cohort (s)

Not Provided

Publications *

Not Provided

* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Recruiting

Enrollment ^ICMJE

Completion Date

Not Provided

Primary Completion Date

Not Provided

Eligibility Criteria ^ICMJE

Suspected or confirmed porphyria
Adults, children, and family members eligible

Gender

Both

Ages

Not Provided

Accepts Healthy Volunteers

Contacts ^ICMJE

Not Provided

Location Countries ^ICMJE

United States

Administrative Information

NCT Number ^ICMJE

NCT00004331

Other Study ID Numbers ^ICMJE

199/11888, UTMB-399

Has Data Monitoring Committee

Not Provided

Responsible Party

Not Provided

Study Sponsor ^ICMJE

National Center for Research Resources (NCRR)

Collaborators ^ICMJE

University of Texas

Investigators ^ICMJE

Study Chair:

Karl Elmo Anderson

University of Texas

Information Provided By

National Center for Research Resources (NCRR)

Verification Date

December 2003

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

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