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Studies in Porphyria I: Characterization of Enzyme Defects

NCT ID: NCT00004331

Last Updated: 2005-06-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

25 participants

Study Classification

OBSERVATIONAL

Study Start Date

1992-11-30

Brief Summary

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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

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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.

Conditions

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Porphyria

Eligibility Criteria

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Inclusion Criteria

* Suspected or confirmed porphyria
* Adults, children, and family members eligible
Minimum Eligible Age

0 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University of Texas

OTHER

Sponsor Role collaborator

National Center for Research Resources (NCRR)

NIH

Sponsor Role lead

Principal Investigators

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Karl Elmo Anderson

Role: STUDY_CHAIR

University of Texas

Locations

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University of Texas Medical Branch

Galveston, Texas, United States

Site Status RECRUITING

Countries

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United States

Facility Contacts

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Karl Elmo Anderson

Role: primary

409-772-4661

Other Identifiers

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UTMB-399

Identifier Type: -

Identifier Source: secondary_id

199/11888

Identifier Type: -

Identifier Source: org_study_id