Acute Porphyria Biomarkers for Disease Activity

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-04-28

Study Completion Date

2026-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Panhematin for Prevention of Acute Attacks of Porphyria

NCT02922413

Acute Intermittent Porphyria Hereditary Coproporphyria Variegate Porphyria

TERMINATED PHASE2

Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias

NCT00004396

Porphyria

COMPLETED PHASE2

Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria

NCT02180412

Acute Porphyrias

COMPLETED PHASE2

Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria

NCT03906214

Porphyrias

COMPLETED

Study of Nutritional Factors in Porphyria

NCT00004788

Porphyria

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Acute Intermittent Porphyria Hereditary Coproporphyria Variegate Porphyria

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Asymptomatic

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

No interventions assigned to this group

Symptomatic and treated with hemin

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

Hemin

Intervention Type 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.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Hemin

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

Intervention Type DRUG

Other Intervention Names

Discover alternative or legacy names that may be used to describe the listed interventions across different sources.

Panhematin

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.