NCT00004331

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.

Trial Health

55
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
25

participants targeted

Target at below P25 for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

November 1, 1992

Completed
7 years until next milestone

First Submitted

Initial submission to the registry

October 18, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 19, 1999

Completed
Last Updated

June 24, 2005

Status Verified

December 1, 2003

First QC Date

October 18, 1999

Last Update Submit

June 23, 2005

Conditions

Porphyria

Keywords

inborn errors of metabolismporphyriarare disease

Eligibility Criteria

Age0 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
* Suspected or confirmed porphyria * Adults, children, and family members eligible

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

University of Texas Medical Branch

Galveston, Texas, 77555-1109, United States

RECRUITING

MeSH Terms

Conditions

PorphyriasMetabolism, Inborn ErrorsRare Diseases

Condition Hierarchy (Ancestors)

Metabolic DiseasesNutritional and Metabolic DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Karl Elmo Anderson

    University of Texas

    STUDY CHAIR

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

October 18, 1999

First Posted

October 19, 1999

Study Start

November 1, 1992

Last Updated

June 24, 2005

Record last verified: 2003-12

Locations

US(1)