Acute Intermittent PorphyriaNCT01617642
Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)
An observational study of Acute Intermittent Porphyria, run by Nordlandssykehuset HF at 1 site in Norway.
Trial summary
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease, which is relatively prevalent in northern Norway with a total of around 90 patients. This provides us with a special opportunity to study AIP. AIP is caused by a mutation in the porphobilinogen deaminase, an enzyme in the haem synthesis. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Acute Intermittent Porphyria
- How many people
- 100 participants
- Where
- 1 siteNorway
- Study dates
- 1 Jul 2012to 31 Dec 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
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
- Healthy volunteers accepted
- Adult, Older adult
Study population: The group of patients with acute intermittent porphyria will be recruited from primary care clinics and patient organizations. The control group will be selected randomly from the same geographical area, matched for gender and age
Who may be able to join
- Diagnosed acute intermittent porphyria
Who cannot join
- Regulatory use of antiinflammatory drugs including steroids and NSAIDS
- Lacking consent competence
Trial locations and contacts
1 site in 1 country.
About this study
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease, which is relatively prevalent in northern Norway with a total of around 90 patients. This provides us with a special opportunity to study AIP. AIP is caused by a mutation in the porphobilinogen deaminase, an enzyme in the haem synthesis. AIP presents symptoms, particularly among fertile women and older men. Typical symptoms are abdominal pain and dark red urine, nausea, vomiting, constipation, muscle weakness and nerve damage including paraesthesia and even paresis. This is known as symptomatic or manifest AIP (MAIP). Others do not display symptoms, so-called latent AIP (LAIP). AIP attacks may be triggered by a host of medicaments which affect the haem synthesis, infections, alcohol and stress. Treatments of manifestations include high sugar intake (4 sugar lumps/hour), alternatively administer glucose and Normosang (synthetic haem arginate) by intravenous injection and removing triggering factors. Diet, glucose intake, dental health and inflammatory parameters will be examined. This study can provide new knowledge about why only some people develop symptoms of AIP. Main hypothesis: There are differences in the diet, iron status, inflammation and glucose metabolism of the MAIP group vs. the LAIP group and the control group.
Read the detailed description
In a group of people with proven acute intermittent porphyria (AIP) mutation, some will remain asymptomatic, while others have repeated periods of porphyria symptoms. Glucose inhibits ALA synthetase (ALAS), the first rate-limiting enzyme in the haem synthesis. Studies of individual patients point to the fact that increased glucose and/or fructose content in the diet inhibits porphyria attacks. A high sugar intake can reduce the disease activity in patients with AIP. The diet and related biomarkers of those with latent and manifest AIP will therefore be mapped to explain why some have latent and others have manifest acute intermittent porphyria. Other studies point to the fact that people with manifest AIP who have later developed diabetes type 2 no longer have porphyria symptoms. Dental health will also be examined.
Inflammation also affects the haem synthesis. Infections and/or inflammation are known to trigger AIP attacks. The disease activity in patients with acute intermittent porphyria in relation to inflammatory status, iron status, glucose metabolism and diet will therefore be examined.
The iron metabolism is interesting to study because it is believed that the overstimulation of the haem synthesis is what triggers porphyria attacks. Haem consists of iron and protoporphyrin IX, and it is therefore possible that iron supplements in cases of iron deficiency can induce increased haem synthesis and by doing so trigger and/or aggravate AIP.
Kidney failure is a serious secondary complication in some patients with MAIP. Protein markers for kidney injury in urine will be examined.
- Conditions
- Acute Intermittent Porphyria
- Keywords
- Porphyria, Inflammation, Diet, Iron status
- Medical subject headings
- Porphyria, Acute Intermittent, Porphyrias, Inflammation
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Control group | Healthy control group, matched for age and gender | |
| Acute intermittent porphyria | Patients with acute intermittent porphyria. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Blood pressure
Resting systolic and diastolic blood pressure, a number of inflammatory parameters, serum markers for iron status and inflammation
Measured: Within 2 months after inclusion
Diet registration
Dietary registration during one week
Measured: Within 2 months after inclusion
Iron status
Blood samples for evaluation of iron status
Measured: Within 2 months after inclusion
Inflammatory status
Blood samples (cytokines etc) for evaluation of inflammation
Measured: Within 2 months after inclusion
Secondary outcomes (1)
Dental health
Evaluate dental health through clinical examination
Measured: Within two months after inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jun 2012 (estimated)
- Study start1 Jul 2012
- Primary completion31 Dec 2024 (estimated)
- Study completion31 Dec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Acute Intermittent PorphyriaStudies of the same condition, open and under way.
- 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 100 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nordlandssykehuset HF
- Sponsor type
- University, hospital or other
- Collaborators
- The Royal Norwegian Ministry of Health
- Responsible party
- Sponsor
- Investigators
- Ole L Brekke, MD, PhD, Principal investigator, University of Tromsø, Norway
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01617642
- Sponsor's protocol ID
- 2011/2197/REK
- Other IDs
- ID/7462 SFP 1068-12
- Status last verified
- May 2024
- First submitted
- 5 Jun 2012
- Last updated
- 9 May 2024
- Results posted
- No
- Data monitoring committee
- No
Publications
Storjord E, Dahl JA, Landsem A, Fure H, Ludviksen JK, Goldbeck-Wood S, Karlsen BO, Berg KS, Mollnes TE, W Nielsen E, Brekke OL. Systemic inflammation in acute intermittent porphyria: a case-control study. Clin Exp Immunol. 2017 Mar;187(3):466-479. doi: 10.1111/cei.12899. Epub 2016 Dec 15.
PubMed 27859020Storjord E, Dahl JA, Landsem A, Ludviksen JK, Karlsen MB, Karlsen BO, Brekke OL. Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study in northern Norway. Mol Genet Metab. 2019 Nov;128(3):254-270. doi: 10.1016/j.ymgme.2018.12.006. Epub 2018 Dec 10.
PubMed 30583995Henno LT, Storjord E, Christiansen D, Bergseth G, Ludviksen JK, Fure H, Barene S, Nielsen EW, Mollnes TE, Brekke OL. Effect of the anticoagulant, storage time and temperature of blood samples on the concentrations of 27 multiplex assayed cytokines - Consequences for defining reference values in healthy humans. Cytokine. 2017 Sep;97:86-95. doi: 10.1016/j.cyto.2017.05.014. Epub 2017 Jun 6.
PubMed 28595117Storjord E, Airila-Mansson S, Karlsen K, Madsen M, Dahl JA, Landsem A, Fure H, Ludviksen JK, Fjose JO, Dickey AK, Karlsen BO, Waage Nielsen E, Mollnes TE, Brekke OL. Dental and Periodontal Health in Acute Intermittent Porphyria. Life (Basel). 2022 Aug 19;12(8):1270. doi: 10.3390/life12081270.
PubMed 36013449Storjord E, Wahlin S, Karlsen BO, Hardersen RI, Dickey AK, Ludviksen JK, Brekke OL. Potential Biomarkers for the Earlier Diagnosis of Kidney and Liver Damage in Acute Intermittent Porphyria. Life (Basel). 2023 Dec 21;14(1):19. doi: 10.3390/life14010019.
PubMed 38276268Storjord 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 9 May 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)
- ClinicalTrials.gov ID
- NCT01617642
- Acronym / sponsor ID
- 2011/2197/REK
- Conditions
- Acute Intermittent Porphyria
- Keywords
- Porphyria, Inflammation, Diet, Iron status
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (actual)
- Lead sponsor
- Nordlandssykehuset HFUniversity, hospital or other
- Collaborators
- The Royal Norwegian Ministry of Health
- Study start
- 1 Jul 2012 (actual)
- Primary completion
- 31 Dec 2024 (estimated)
- Study completion
- 31 Dec 2024 (estimated)
- First posted
- 12 Jun 2012 (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.
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease, which is relatively prevalent in northern Norway with a total of around 90 patients. This provides us with a special opportunity to study AIP. AIP is caused by a mutation in the porphobilinogen deaminase, an enzyme in the haem synthesis. AIP presents symptoms, particularly among fertile women and older men. Typical symptoms are abdominal pain and dark red urine, nausea, vomiting, constipation, muscle weakness and nerve damage including paraesthesia and even paresis. This is known as symptomatic or manifest AIP (MAIP). Others do not display symptoms, so-called latent AIP (LAIP). AIP attacks may be triggered by a host of medicaments which affect the haem synthesis, infections, alcohol and stress. Treatments of manifestations include high sugar intake (4 sugar lumps/hour), alternatively administer glucose and Normosang (synthetic haem arginate) by intravenous injection and removing triggering factors. Diet, glucose intake, dental health and inflammatory parameters will be examined. This study can provide new knowledge about why only some people develop symptoms of AIP. Main hypothesis: There are differences in the diet, iron status, inflammation and glucose metabolism of the MAIP group vs. the LAIP group and the control group.
Detailed description
In a group of people with proven acute intermittent porphyria (AIP) mutation, some will remain asymptomatic, while others have repeated periods of porphyria symptoms. Glucose inhibits ALA synthetase (ALAS), the first rate-limiting enzyme in the haem synthesis. Studies of individual patients point to the fact that increased glucose and/or fructose content in the diet inhibits porphyria attacks. A high sugar intake can reduce the disease activity in patients with AIP. The diet and related biomarkers of those with latent and manifest AIP will therefore be mapped to explain why some have latent and others have manifest acute intermittent porphyria. Other studies point to the fact that people with manifest AIP who have later developed diabetes type 2 no longer have porphyria symptoms. Dental health will also be examined.
Inflammation also affects the haem synthesis. Infections and/or inflammation are known to trigger AIP attacks. The disease activity in patients with acute intermittent porphyria in relation to inflammatory status, iron status, glucose metabolism and diet will therefore be examined.
The iron metabolism is interesting to study because it is believed that the overstimulation of the haem synthesis is what triggers porphyria attacks. Haem consists of iron and protoporphyrin IX, and it is therefore possible that iron supplements in cases of iron deficiency can induce increased haem synthesis and by doing so trigger and/or aggravate AIP.
Kidney failure is a serious secondary complication in some patients with MAIP. Protein markers for kidney injury in urine will be examined.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Control group | – | –Healthy control group, matched for age and gender |
| Acute intermittent porphyria | – | –Patients with acute intermittent porphyria. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- The group of patients with acute intermittent porphyria will be recruited from primary care clinics and patient organizations. The control group will be selected randomly from the same geographical area, matched for gender and age
Key inclusion criteria (1 listed)
- Diagnosed acute intermittent porphyria
Key exclusion criteria (2 listed)
- Regulatory use of antiinflammatory drugs including steroids and NSAIDS
- Lacking consent competence
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Blood pressure
Time frame: Within 2 months after inclusion
Resting systolic and diastolic blood pressure, a number of inflammatory parameters, serum markers for iron status and inflammation
Diet registration
Time frame: Within 2 months after inclusion
Dietary registration during one week
Iron status
Time frame: Within 2 months after inclusion
Blood samples for evaluation of iron status
Inflammatory status
Time frame: Within 2 months after inclusion
Blood samples (cytokines etc) for evaluation of inflammation
1 secondary outcome
Dental health
Time frame: Within two months after inclusion
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 May 2024.
- Background: PubMed 27859020Storjord E, Dahl JA, Landsem A, Fure H, Ludviksen JK, Goldbeck-Wood S, Karlsen BO, Berg KS, Mollnes TE, W Nielsen E, Brekke OL. Systemic inflammation in acute intermittent porphyria: a case-control study. Clin Exp Immunol. 2017 Mar;187(3):466-479. doi: 10.1111/cei.12899. Epub 2016 Dec 15.
- Background: PubMed 30583995Storjord E, Dahl JA, Landsem A, Ludviksen JK, Karlsen MB, Karlsen BO, Brekke OL. Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study in northern Norway. Mol Genet Metab. 2019 Nov;128(3):254-270. doi: 10.1016/j.ymgme.2018.12.006. Epub 2018 Dec 10.
- Background: PubMed 28595117Henno LT, Storjord E, Christiansen D, Bergseth G, Ludviksen JK, Fure H, Barene S, Nielsen EW, Mollnes TE, Brekke OL. Effect of the anticoagulant, storage time and temperature of blood samples on the concentrations of 27 multiplex assayed cytokines - Consequences for defining reference values in healthy humans. Cytokine. 2017 Sep;97:86-95. doi: 10.1016/j.cyto.2017.05.014. Epub 2017 Jun 6.
- Background: PubMed 36013449Storjord E, Airila-Mansson S, Karlsen K, Madsen M, Dahl JA, Landsem A, Fure H, Ludviksen JK, Fjose JO, Dickey AK, Karlsen BO, Waage Nielsen E, Mollnes TE, Brekke OL. Dental and Periodontal Health in Acute Intermittent Porphyria. Life (Basel). 2022 Aug 19;12(8):1270. doi: 10.3390/life12081270.
- Background: PubMed 38276268Storjord E, Wahlin S, Karlsen BO, Hardersen RI, Dickey AK, Ludviksen JK, Brekke OL. Potential Biomarkers for the Earlier Diagnosis of Kidney and Liver Damage in Acute Intermittent Porphyria. Life (Basel). 2023 Dec 21;14(1):19. doi: 10.3390/life14010019.
- 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.
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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.
Ole L Brekke, MD, PhD principal investigator
University of Tromsø, Norway
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, run by Nordlandssykehuset HF at 1 site in Norway.
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 1 inclusion and 2 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: status not confirmed, as of the sponsor's last update on 9 May 2024. 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 Norway. 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?
Results are not available in the source record.
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?
Blood pressure (time frame: Within 2 months after inclusion). The study lists 4 primary outcomes in all. 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 NCT01617642, which also lists 6 linked publications.
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 9 May 2024.