Acute Porphyria Biomarkers for Disease Activity

The University of Texas System (UT)

Status: Active, not recruiting

Conditions: Hereditary Coproporphyria; Variegate Porphyria; Acute Intermittent Porphyria

Treatments: Drug: Hemin

Study type: Observational

Funder types: Other

Identifiers

NCT02935400

14-0001

Details and patient eligibility

About

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.

Full 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.

Enrollment: 50 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

50 participants in 2 patient groups

Asymptomatic

Description:

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

Symptomatic and treated with hemin

Description:

Group 2 will have a history of symptoms within the past year.

Treatment:

Drug: Hemin