7202: Mitoferrin-1 Expression in Erythropoietic Protoporphyria
The purpose of this study was to identify the biochemical/genetic defects in erythropoietic protoporphyria (EPP). People with EPP have skin sensitivity to sunlight and occasionally develop liver disease. In this study, the investigators hope to learn the nature of the biochemical/genetic defects in EPP because this may help explain the severity of these clinical features.
7203: A double-blind, randomized, placebo-controlled, parallel group trial on the efficacy and safety of PanhematinTM in the treatment of acute attacks of porphyria
This study aimed to provide high quality evidence for the effectiveness and safety of hemin (PanhematinTM , Recordati) for treatment of acute attacks of porphyria. These types of studies have not been done before with either PanhematinTM or the hemin preparation available in Europe (NormosangTM, Orphan Europe).
7205: Measuring the Effects of Isoniazid Treatment on Erythrocyte and Plasma Protoporphyrin IX Concentration in Patients with Erythropoietic Protoporphyria
This study will determine if the activity of aminolevulinic acid synthase (ALAS), the first and rate limiting step in heme biosynthesis, can be down-regulated by limiting the available plasma supply of, pyridoxal-5’-phosphate (PLP), an obligate cofactor required for synthesis of ALA by ALAS.
7206: Therapeutic Studies in Porphyria Cutanea Tarda
Porphyria Cutanea Tarda (PCT) is the most common porphyria that is generally diagnosed in adulthood. This study compares two treatments 1) phlebotomy and 2) hydroxychloroquine or chloroquine.
7207: Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
the purpose of this study is to determine the effect of oral iron on EPP and XLP patients.
7209: Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias
The purpose of this study is to determine the effect of oral iron on EPP and XLP patients.
7210: Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects with Chronic Hepatitis C
The purpose of this study is to determine if giving a standard treatment for HCV is also an effective treatment for PCT.
7211: Effect of Oral Cimetidine in the Protoporphyrias
The study design is a prospective, blinded, randomized, 2x2 cross-over design comparing cimetidine to placebo in patients with protoporphyria.