Study of the Pathogenesis of Porphyria Cutanea Tarda

NCT00005103 | Completed

• 3 other identifiers: 199/14875UTMB-433UTMB-95-173
• Study Type: observational
• Target: 120
• Locations: 1 country
• Sites: 1

Brief Summary

OBJECTIVES: I. Determine the effect of standard treatments on various predisposing factors in patients with porphyria cutanea tarda (PCT). II. Investigate alcohol history, smoking, liver dysfunction and its etiology, estrogen use, and family history of PCT in these patients. III. Study the relationships of excess iron and the hemochromatosis gene to PCT, including clinical features and risk of recurrence in these patients. IV. Assess hepatitis C virus infections in these patients. V. Assess vitamin C levels in these patients before and after treatment. VI. Assess dietary habits in these patients. VII. Assess activity of cytochrome P450 enzymes (CYP) in vivo in these patients. VIII. Study polymorphic genes for enzymes that metabolize foreign chemicals, including CYP enzymes and glutathione transferases in these patients.

Conditions

Porphyria Cutanea Tarda

Keywords

inborn errors of metabolism; porphyria; porphyria cutanea tarda; rare disease

Eligibility Criteria

• Age: 0 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

* Well documented sporadic (Type I) or familial (Type II) porphyria cutanea tarda: Increased plasma porphyrins (fluorescence maximum at neutral pH near 617 nm) Increased urinary porphyrins (consisting mostly of uroporphyrin and heptacarboxylporphyrin) Increased isocoproporphyrins in feces * No other type of porphyria

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

Sponsors & Collaborators

• National Center for Research Resources (NCRR): lead
• University of Texas: collaborator

Study Sites (1)

University of Texas Medical Branch

Galveston, Texas, 77555-0209, United States

Location

MeSH Terms

Conditions

Porphyria Cutanea Tarda; Metabolism, Inborn Errors; Porphyrias; Rare Diseases

Condition Hierarchy (Ancestors)

Porphyrias, Hepatic; Liver Diseases; Digestive System Diseases; Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological 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: April 6, 2000
• First Posted: April 7, 2000
• Study Start: November 1, 2000
• Last Updated: June 24, 2005

Record last verified: 2003-12

Locations

US (1)