View clinical trials related to Porphyrias.
Filter by:To determine the efficacy and tolerability of deferasirox in the treatment of Porphyria Cutanea Tarda. Primary objective - the elimination of all blistering within 6 months of treatment. Secondary objective - decrease in total body iron levels.
A multi-centre, double-blind, randomized, placebo controlled, parallel group trial, investigating the efficacy and safety of Porphozym (recombinant human porphobilinogen deaminase)in the treatment of acute attacks in AIP.
Comparison of patients with documented PCT and HCV infection, documented PCT without HCV, HCV infection without PCT and controls without HCV or PCT. Single blood + urine sample uptake to investigate : mutations in HFE gene, uroporphyrinogen decarboxylase activity, HCV genotye, history of disease.
OBJECTIVES: I. Determine the phenotypic heterogeneity of patients with genetic disorders including their clinical spectrum and natural history. II. Develop and evaluate novel methods for the treatment of genetic disorders including metabolic manipulation, enzyme manipulation, enzyme replacement, enzyme transplantation, and gene transfer techniques in these patients. III. Develop and evaluate methods for the prenatal diagnosis of genetic disorders using improved cytogenetic, biochemical, and nucleic acid techniques and amniotic fluid cells or chorionic villi in these patients.
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.
OBJECTIVES: I. Evaluate the efficacy and safety of heme arginate in the treatment of 20 patients with acute attacks of porphyria. II. Evaluate the efficacy and safety of heme arginate in preventing frequent exacerbations of acute porphyria in up to 15 patients. III. Estimate the lowest effective dose of heme arginate (0.3, 1.0, or 3.0 mg/kg) in reducing porphyrin precursors in 12 stable patients with acute intermittent porphyria in remission. IV. Evaluate the safety and efficacy of tin mesoporphyrin used in combination with heme arginate in reducing porphyrin precursors in 12 stable patients with acute intermittent porphyria in remission.
OBJECTIVES: I. Determine whether differences in dietary habits are associated with disease activity in patients with acute intermittent porphyria. II. Determine whether premenstrual porphyria attacks are associated with increased luteal phase energy requirements. III. Determine whether energy requirements are higher than intakes in men with unexplained frequent porphyria attacks. IV. Assess the nutritional status of women with acute intermittent porphyria using a comprehensive series of laboratory methods, including zinc and pyridoxine status. V. Determine whether the frequency of disease exacerbations decreases when dietary and nutritional abnormalities are corrected in these patients. VI. Evaluate the safety and efficacy of a parenteral nutrition regimen for patients with acute porphyria attacks.
OBJECTIVES: I. Evaluate the efficacy of tin mesoporphyrin in patients with acute porphyria attacks who are also treated with a standard course of heme arginate. II. Evaluate the safety and tolerability of tin mesoporphyrin when administered to these patients.
OBJECTIVES: I. Evaluate the effectiveness of tin mesoporphyrin in reducing the number of heme infusions needed to prevent acute attacks of porphyria. II. Evaluate the safety and tolerability of tin mesoporphyrin in these patients.
OBJECTIVES: I. Compare the efficacy of heme arginate, singly or in combination with tin mesoporphyrin, in lowering porphyrin precursors in patients with asymptomatic acute intermittent porphyria. II. Evaluate and compare the safety and tolerability of these treatment regimens in this patient population.