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Acute Porphyria Biomarkers for Disease Activity

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02935400
Recruitment Status : Active, not recruiting
First Posted : October 17, 2016
Last Update Posted : July 7, 2020
Information provided by (Responsible Party):
The University of Texas Medical Branch, Galveston

Brief Summary:
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.

Condition or disease Intervention/treatment
Acute Intermittent Porphyria Hereditary Coproporphyria Variegate Porphyria Drug: Hemin

Detailed Description:
This translational pilot research is based on preliminary results using animal models. The investigators will collect samples of blood, urine and feces from up to 50 participants 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 individuals 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.

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Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment
Actual Study Start Date : April 28, 2014
Estimated Primary Completion Date : September 2022
Estimated Study Completion Date : September 2023

Group/Cohort Intervention/treatment
Group 1 will have had no symptoms of porphyria in the past year.
Symptomatic and treated with hemin
Group 2 will have a history of symptoms within the past year.
Drug: Hemin
Hemin will be administered under a separate protocol or for clinical treatment, and samples will be collected under this protocol before and after treatment.
Other Name: Panhematin

Primary Outcome Measures :
  1. Potential biomarkers Biomarkers [ Time Frame: 10 days ]
    Expression of heme biosynthetic and heat and stress response genes

Biospecimen Retention:   Samples Without DNA
  1. Blood specimens collected in Paxgene tubes for isolation of RNA for expression studies.
  2. Blood samples for metabolomic studies
  3. Urine samples for metabolomic studies
  4. Stool samples for metabolomic studies

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Acute intermittent porphyria, hereditary coproporphyria, variegate porphyria.

Inclusion Criteria:

  • Documented diagnosis of acute porphyria.

    1. For AIP: Elevation in urine PBG, with normal or only slight increases in plasma and fecal porphyrins. Most (~90%) will have deficient activity of erythrocyte PBGD.
    2. For HCP: Elevation in urine PBG, with substantial increases in fecal porphyrins (almost entirely coproporphyrin III). In the absence of skin photosensitivity, most will have normal or only slight increases in plasma porphyrins.
    3. For VP: Elevation in PBG, with substantial increases in fecal porphyrins (mostly coproporphyrin III and protoporphyrin), increased plasma total porphyrins and a fluorescence emission maximum of diluted plasma at neutral pH near 626 nm.

Exclusion Criteria:

  • Another medical condition that might confound the results, as judged by the investigator

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02935400

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United States, Texas
University of Texas Medical Branch
Galveston, Texas, United States, 77555
Sponsors and Collaborators
The University of Texas Medical Branch, Galveston
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Principal Investigator: Karl E Anderson University of Texas
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Responsible Party: The University of Texas Medical Branch, Galveston Identifier: NCT02935400    
Other Study ID Numbers: 14-0001
First Posted: October 17, 2016    Key Record Dates
Last Update Posted: July 7, 2020
Last Verified: January 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: Data not entered
Keywords provided by The University of Texas Medical Branch, Galveston:
Additional relevant MeSH terms:
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Porphyria, Acute Intermittent
Coproporphyria, Hereditary
Porphyria, Variegate
Porphyria, Erythropoietic
Metabolic Diseases
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Porphyrias, Hepatic
Liver Diseases
Digestive System Diseases