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

Clinical Trials [309 Associated Clinical Trials listed on BioPortfolio]

Hemin in Healthy Subjects

This study is being done because we want to learn if hemin can increase the production of heme oxygenase 1. Heme oxygenase 1 (HO-1) is an enzyme which protects cells from physical, chemica...

A Study to Evaluate Long-term Safety and Clinical Activity of ALN-AS1 in Patient With Acute Intermittent Porphyria (AIP)

The purpose of this study is to determine the long-term safety, tolerability and pharmacokinetics of ALN-AS1 in AIP patients

EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)

The purpose of this study is to characterize the natural history and clinical management of Acute Hepatic Porphyria (AHP) patients with recurring attacks.

Studies in Porphyria I: Characterization of Enzyme Defects

OBJECTIVES: I. Characterize enzyme defects in patients with known or suspected porphyria and their family members. II. Determine whether selected patients are eligible for other porphyr...

Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks

OBJECTIVES: Assess whether chronic administration of gonadotropin-releasing hormone analogues is safe and effective for the prevention of cyclic attacks of acute porphyria in women.

PubMed Articles [6418 Associated PubMed Articles listed on BioPortfolio]

Clinical characteristic of psychiatric symptoms in Acute Intermittent Porphyria (AIP): A report of a pair of identical twins.

Cryo IR Spectroscopy of Hemin(+) Complexes in Isolation.

We present cryo IR spectra of isolated [Hemin](+) adducts with CO, N2 and O2 ([Hemin(CO)1](+), [Hemin(CO)2](+), [Hemin((14)N2)](+), [Hemin((15)N2)](+) and [Hemin(O2)](+)). Well resolved bands allow fo...

Eff ects of hemin, a heme oxygenase-1 inducer in L-arginine-induced acute pancreatitis and associated lung injury in adult male albino rats.

The aim of the current study was to assess the protective outcome of hemin, a heme oxygenase-1 (HO-1) inducer on L-arginine-induced acute pancreatitis in rats. Acute pancreatitis (AP) is considered to...

Electrochemical behavior of hemin binding with human centrin 3.

The electrochemical responses of human centrin 3 (HsCen3) binding with hemin were studied by cyclic voltammetry (CV) and differential pulse voltammetry (DPV) using glassy carbon electrodes (GCEs). In ...

Changes in mitochondrial ultrastructure in SH-SY5Y cells during apoptosis induced by hemin.

Hemorrhagic stroke is associated with high morbidity and mortality. Hemin is a decomposition product of hemoglobin that is related to neuronal apoptosis after hemorrhage, although the molecular basis ...

Medical and Biotech [MESH] Definitions

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

A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.

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.

An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.

More From BioPortfolio on "Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment"

Quick Search

Relevant Topic

Benign Prostatic Hyperplasia (BPH) Erectile Dysfunction Urology Urology is the branch of medicine concerned with the urinary tract and diseases that affect it. Examples include urethritis, urethrostenosis and incontinence. Urology is a su...

Searches Linking to this Trial