Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment

14-0001

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.

2014-04-28

2025-12-01

2025-12-31

Active (not recruiting)

50

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

{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'OTHER', 'timePerspective': 'PROSPECTIVE'}, 'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': '1. Blood specimens collected in Paxgene tubes for isolation of RNA for expression studies.\n2. Blood samples for metabolomic studies\n3. Urine samples for metabolomic studies\n4. Stool samples for metabolomic studies'}, 'enrollmentInfo': {'count': 50, 'type': 'ESTIMATED'}}

2024-04-16