NCT00004331

Studies in Porphyria I: Characterization of Enzyme Defects

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 25 (planned)
• Sponsor: National Center for Research Resources (NCRR) · NIH
• Sex: All
• Age: 0 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Porphyria

Timeline

• Start date: 1992-11-01
• First posted: 1999-10-19
• Last updated: 2005-06-24

Locations

1 site across 1 country: United States