Summary: This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.

Summary: This global patient registry is being conducted to characterize the natural history and real-world clinical management of patients with AHP, and to further characterize the real-world safety and effectiveness of givosiran and other approved AHP therapies.

Summary: To investigate the efficacy of MT-7117 on time to onset and severity of first prodromal symptoms (burning, tingling, itching, or stinging) associated with sunlight exposure in adults and adolescents with EPP or XLP.

Summary: To evaluate the long-term safety and tolerability of oral dersimelagon.

Summary: The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders.

Summary: The main aim of this clinical trial is to learn about the effect of carbohydrate-rich diet as a treatment for AIP (acute intermittent porphyria). Aim: Investigate the diet's impact on tissue and serum glucose, plasma insulin, cytokine levels, amino acids, and gut microbiota in AIP, and their correlation with PBG (Porphobilinogen). Aim: Assess the diet's effect on AIP symptoms and health status in ...

Summary: What is the visible light protective effect of dihydroxyacetone in individuals with erythropoietic protoporphyria? This will be tested in this randomized blinded placebo controlled study.