Acute Porphyria Biomarkers for Disease Activity

NCT02935400 | Active Not Recruiting

• 1 other identifier: 14-0001
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Acute Intermittent Porphyria; Hereditary Coproporphyria; Variegate Porphyria

Keywords

porphyria; biomarkers

Outcome Measures

Primary Outcomes (1)

• Potential biomarkers Biomarkers

  Expression of heme biosynthetic and heat and stress response genes

  10 days

Study Arms (2)

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

Interventions

Hemin DRUG

Hemin will be administered under a separate protocol or for clinical treatment, and samples will be collected under this protocol before and after treatment.

Also known as: Panhematin

Symptomatic and treated with hemin

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Acute intermittent porphyria, hereditary coproporphyria, variegate porphyria.

You may qualify if:

• Documented diagnosis of acute porphyria.
• 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.
• 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.
• 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.

You may not qualify if:

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

Sponsors & Collaborators

• The University of Texas Medical Branch, Galveston: lead

Study Sites (1)

University of Texas Medical Branch

Galveston, Texas, 77555, United States

Location

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

MeSH Terms

Conditions

Porphyria, Acute Intermittent; Coproporphyria, Hereditary; Porphyria, Variegate; Porphyrias

Interventions

Hemin

Condition Hierarchy (Ancestors)

Porphyrias, Hepatic; Liver Diseases; Digestive System Diseases; Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Heme; Metalloporphyrins; Porphyrins; Tetrapyrroles; Pyrroles; Azoles; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds; Heterocyclic Compounds, 4 or More Rings; Heterocyclic Compounds, Fused-Ring; Macrocyclic Compounds; Polycyclic Compounds; Pigments, Biological; Biological Factors

Study Officials

• Karl E Anderson

  University of Texas

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 13, 2016
• First Posted: October 17, 2016
• Study Start: April 28, 2014
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: April 18, 2025

Record last verified: 2025-04

Locations

US (1)