An observational study in Porphyria, sponsored by National Center for Research Resources (NCRR). Status unknown at 1 site in United States. Open to participants aged 0 Years and older. Per ClinicalTrials.gov, last updated 2005-06-24.
Sponsored by National Center for Research Resources (NCRR) · Observational
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.
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.
33 studies on the registry are indexed under Porphyria, Erythropoietic; 1 is open to participants now.
This study's enrollment of 25 is below the median of 110 across 14 observational studies indexed under Porphyria, Erythropoietic.
Browse Porphyria, Erythropoietic studies →National Center for Research Resources (NCRR) is the lead sponsor of 265 studies on the registry; none are open to participants now.
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This study is status unknown, as verified in Dec 2003. You cannot join it, but the record below documents what was studied.
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National Center for Research Resources (NCRR)