Back to results

Studies in Porphyria I: Characterization of Enzyme Defects

Primary Purpose

Porphyria

Status

Unknown status

Phase

Locations

United States

Study Type

Observational

Intervention

About this trial

This is an observational trial for Porphyria focused on measuring inborn errors of metabolism, porphyria, rare disease

Eligibility Criteria

0 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

University of Texas Medical BranchRecruiting

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

NCT ID

NCT00004331

First Posted

October 18, 1999

Last Updated

June 23, 2005

Sponsor

National Center for Research Resources (NCRR)

Collaborators

University of Texas

1. Study Identification

Unique Protocol Identification Number

NCT00004331

Brief Title

Studies in Porphyria I: Characterization of Enzyme Defects

Study Type

Observational

2. Study Status

Record Verification Date

December 2003

Overall Recruitment Status

Unknown status

Study Start Date

November 1992 (undefined)

Primary Completion Date

undefined (undefined)

Study Completion Date

undefined (undefined)

3. Sponsor/Collaborators

Name of the Sponsor

National Center for Research Resources (NCRR)

Collaborators

University of Texas

4. Oversight

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Porphyria

Keywords

inborn errors of metabolism, porphyria, rare disease

7. Study Design

Enrollment

25 (false)

10. Eligibility

Sex

All

Minimum Age & Unit of Time

0 Years

Accepts Healthy Volunteers

Eligibility Criteria

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

Overall Study Officials:

First Name & Middle Initial & Last Name & Degree

Karl Elmo Anderson

Organizational Affiliation

University of Texas

Official's Role

Study Chair

Facility Information:

Facility Name

University of Texas Medical Branch

City

Galveston

State/Province

Texas

ZIP/Postal Code

77555-1109

Country

United States

Individual Site Status

Recruiting

Facility Contact:

First Name & Middle Initial & Last Name & Degree

Karl Elmo Anderson

Phone

409-772-4661

12. IPD Sharing Statement

Learn more about this trial

Studies in Porphyria I: Characterization of Enzyme Defects

We'll reach out to this number within 24 hrs