Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment

2016-10-18 02:08:21 | BioPortfolio


The long term objective of the research is to identify new biomarkers of disease activity in the human acute porphyrias. This pilot study is intended to provide pilot and feasibility data needed to plan larger and more definitive future studies.


This translational pilot research is based on preliminary results using animal models. We will collect samples of blood, urine and feces from up to 50 patients with well documented acute porphyrias, at 2 expert sites that are members of the Porphyrias Consortium. Collection and analysis of these samples will be used to assess feasibility of performing such studies in humans with acute porphyrias, recognizing that these disorders are more heterogeneous than reproduced in animal models, and affect patients who cannot all be studied simultaneously and in large groups. Therefore, we will assess the feasibility of methods for collecting, processing, storing and shipping samples at multiple study sites for later biomarker analysis. Larger and more definitive studies of biomarkers will be designed and implemented based on data and experience from this pilot-feasibility study.

Study Design

Time Perspective: Prospective


Acute Intermittent Porphyria




University of Texas Medical Branch
United States


Enrolling by invitation


The University of Texas Medical Branch, Galveston

Results (where available)

View Results


Published on BioPortfolio: 2016-10-18T02:08:21-0400

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An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.

An enzyme that catalyzes the tetrapolymerization of the monopyrrole PORPHOBILINOGEN into the hydroxymethylbilane preuroporphyrinogen (UROPORPHYRINOGENS) in several discrete steps. It is the third enzyme in the 8-enzyme biosynthetic pathway of HEME. In humans, deficiency in this enzyme encoded by HMBS (or PBGD) gene results in a form of neurological porphyria (PORPHYRIA, ACUTE INTERMITTENT). This enzyme was formerly listed as EC

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An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.

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