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Studies in Porphyria I: Characterization of Enzyme Defects

N

National Center for Research Resources (NCRR)

Status

Unknown

Conditions

Porphyria

Study type

Observational

Funder types

Other
NIH

Identifiers

NCT00004331
199/11888
UTMB-399

Details and patient eligibility

About

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.

Full 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.

Sex

All

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

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

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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