Acute Porphyria Biomarkers for Disease Activity

Brief Title

Acute Porphyria Biomarkers for Disease Activity

Official Title

Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment

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.
    

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


Primary Outcome

Potential biomarkers Biomarkers


Condition

Acute Intermittent Porphyria

Intervention

Hemin

Study Arms / Comparison Groups

 Asymptomatic
Description:  Group 1 will have had no symptoms of porphyria in the past year.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Drug

Estimated Enrollment

50

Start Date

April 28, 2014

Completion Date

September 2023

Primary Completion Date

September 2022

Eligibility Criteria

        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
      

Gender

All

Ages

18 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Karl E Anderson, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT02935400

Organization ID

14-0001


Responsible Party

Sponsor

Study Sponsor

The University of Texas Medical Branch, Galveston


Study Sponsor

Karl E Anderson, Principal Investigator, University of Texas


Verification Date

July 2021