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NCT00004331 Clinical Trial

Studies in Porphyria I: Characterization of Enzyme Defects

Porphyria Clinical Trial

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT00004331
Other study ID # 199/11888
Secondary ID UTMB-399
Status Recruiting
Phase N/A
First received October 18, 1999
Last updated June 23, 2005
Start date November 1992

Study information
Verified date December 2003
Source National Center for Research Resources (NCRR)
Contact n/a
Is FDA regulated No
Health authority United States: Federal Government
Study type Observational

Clinical Trial 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.

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.

Recruitment information / eligibility
Status Recruiting
Enrollment 25
Est. completion date
Est. primary completion date
Accepts healthy volunteers No
Gender Both
Age group N/A and older
Eligibility - Suspected or confirmed porphyria

- Adults, children, and family members eligible

Study Design

Primary Purpose: Screening

Related Conditions & MeSH terms

Locations
Country Name City State
United States University of Texas Medical Branch Galveston Texas

Sponsors (2)
Lead Sponsor Collaborator
National Center for Research Resources (NCRR) University of Texas

Country where clinical trial is conducted

United States, 

See also
  Status Clinical Trial Phase
Completed NCT00004396 - Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Phase 2
Completed NCT00004788 - Study of Nutritional Factors in Porphyria N/A
Completed NCT00004330 - Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks N/A
Completed NCT00004789 - Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Phase 1/Phase 2
Completed NCT00004397 - Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria Phase 1
Completed NCT00004398 - Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria Phase 1