Acute Porphyria Biomarkers for Disease Activity

Study Overview
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Brief Summary
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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
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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.

Official Title
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Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment

Conditions
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Acute Intermittent Porphyria, Hereditary Coproporphyria, Variegate Porphyria

Intervention / Treatment
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* Drug: Hemin


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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. Exclusion Criteria: Another medical condition that might confound the results, as judged by the investigator

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Asymptomatic<br>Group 1 will have had no symptoms of porphyria in the past year. | |
| Symptomatic and treated with hemin<br>Group 2 will have a history of symptoms within the past year. | Drug: Hemin<br>* Hemin will be administered under a separate protocol or for clinical treatment, and samples will be collected under this protocol before and after treatment.<br>* Other names: Panhematin;|

What is the study measuring?
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Primary Outcome Measures

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

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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porphyria, biomarkers