Acute Intermittent PorphyriaNCT02935400
Acute Porphyria Biomarkers for Disease Activity
An observational study of Acute Intermittent Porphyria and Hereditary Coproporphyria, run by The University of Texas Medical Branch, Galveston at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Acute Intermittent Porphyria, Hereditary Coproporphyria, Variegate Porphyria
- What is being tested?
- Hemin
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- 28 Apr 2014to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Acute intermittent porphyria, hereditary coproporphyria, variegate porphyria.
Who may be able to join
- 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.
Who cannot join
- Another medical condition that might confound the results, as judged by the investigator
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Texas Medical Branch
Galveston, Texas, 77555
About this study
Official title: Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment
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.
Read the detailed 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.
- Being tested
- Hemin
- Keywords
- porphyria, biomarkers
- Medical subject headings
- Porphyria, Acute Intermittent, Coproporphyria, Hereditary, Porphyria, Variegate, Porphyrias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
HeminDrug
Also called Panhematin
Hemin will be administered under a separate protocol or for clinical treatment, and samples will be collected under this protocol before and after treatment.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Drug: Hemin |
What is being measured
The primary outcome is the main question the study is designed to answer.
Potential biomarkers Biomarkers
Expression of heme biosynthetic and heat and stress response genes
Measured: 10 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Oct 2016 (estimated)
- Study start28 Apr 2014
- Primary completionDec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Acute Intermittent PorphyriaStudies of the same condition, open and under way.
- More trials run by The University of Texas Medical Branch, GalvestonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Karl E Anderson, Principal investigator, University of Texas
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02935400
- Sponsor's protocol ID
- 14-0001
- Status last verified
- May 2026
- First submitted
- 13 Oct 2016
- Last updated
- 12 May 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided: Data not entered
Publications
Storjord E, Anderson KE, Bonkovsky HL, Murti A, Tollali G, Moghe A, Wang B, Emblem A, Brekke OL, Karlsen BO. C-type lectin 10A [CD301] mRNA is upregulated in symptomatic acute intermittent porphyria and decreases after heme treatment. Mol Genet Metab. 2026 Sep 18;149(3):110263. doi: 10.1016/j.ymgme.2026.110263. Online ahead of print.
PubMed 42833135
Study at a glance
From the registry record, last updated by the sponsor on 12 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment
- ClinicalTrials.gov ID
- NCT02935400
- Acronym / sponsor ID
- 14-0001
- Keywords
- porphyria, biomarkers
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- The University of Texas Medical Branch, GalvestonUniversity, hospital or other
- Study start
- 28 Apr 2014 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 17 Oct 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Asymptomatic | – | –Group 1 will have had no symptoms of porphyria in the past year. |
| Symptomatic and treated with hemin | – | Drug: HeminGroup 2 will have a history of symptoms within the past year. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Acute intermittent porphyria, hereditary coproporphyria, variegate porphyria.
Key inclusion criteria (4 listed)
- Documented diagnosis of acute porphyria.
Key exclusion criteria (1 listed)
- Another medical condition that might confound the results, as judged by the investigator
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| HeminAlso: PanhematinHemin will be administered under a separate protocol or for clinical treatment, and samples will be collected under this protocol before and after treatment. | Drug | Symptomatic and treated with hemin |
Primary outcome
Potential biomarkers Biomarkers
Time frame: 10 days
Expression of heme biosynthetic and heat and stress response genes
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 May 2026.
- Derived from this study: PubMed 42833135Storjord E, Anderson KE, Bonkovsky HL, Murti A, Tollali G, Moghe A, Wang B, Emblem A, Brekke OL, Karlsen BO. C-type lectin 10A [CD301] mRNA is upregulated in symptomatic acute intermittent porphyria and decreases after heme treatment. Mol Genet Metab. 2026 Sep 18;149(3):110263. doi: 10.1016/j.ymgme.2026.110263. Online ahead of print.
- Individual participant dataSharing planned: Undecided. Data not entered
Related trials for Acute Intermittent Porphyria
RecruitingObservational study
Identification of Acute Intermittent Porphyria Modifying Genes
Acute Intermittent Porphyria (AIP)
RecruitingObservational study
Longitudinal Study of the Porphyrias
Acute Porphyrias, Cutaneous Porphyrias
Recruiting
Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
Porphyria, Acute Intermittent
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Karl E Anderson principal investigator
University of Texas
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Acute Intermittent Porphyria and Hereditary Coproporphyria, run by The University of Texas Medical Branch, Galveston at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 12 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Potential biomarkers Biomarkers (time frame: 10 days). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02935400, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 May 2026.