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