Acute Porphyria Biomarkers for Disease Activity

April 15, 2024 updated by: The University of Texas Medical Branch, Galveston

Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment

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.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Texas
      • Galveston, Texas, United States, 77555
        • University of Texas Medical Branch

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Acute intermittent porphyria, hereditary coproporphyria, variegate porphyria.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Asymptomatic
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 Names:
  • Panhematin

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Potential biomarkers Biomarkers
Time Frame: 10 days
Expression of heme biosynthetic and heat and stress response genes
10 days

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

The University of Texas Medical Branch, Galveston

Investigators

  • Principal Investigator: Karl E Anderson, University of Texas

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 28, 2014

Primary Completion (Estimated)

December 1, 2025

Study Completion (Estimated)

December 31, 2025

Study Registration Dates

First Submitted

October 13, 2016

First Submitted That Met QC Criteria

October 13, 2016

First Posted (Estimated)

October 17, 2016

Study Record Updates

Last Update Posted (Actual)

April 16, 2024

Last Update Submitted That Met QC Criteria

April 15, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 14-0001

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

Data not entered

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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