Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)

Brief Title

Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)

Official Title

Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)

Brief 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. 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

      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 Type


Primary Outcome

Blood pressure

Secondary Outcome

 Dental health


Acute Intermittent Porphyria

Study Arms / Comparison Groups

 Control group
Description:  Healthy control group, matched for age and gender


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

July 2012

Completion Date

December 2021

Primary Completion Date

December 2021

Eligibility Criteria

        Inclusion Criteria:

          -  Diagnosed acute intermittent porphyria

        Exclusion Criteria:

          -  Regulatory use of antiinflammatory drugs including steroids and NSAIDS

          -  Lacking consent competence




18 Years - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers


Ole L Brekke, MD, PhD, , 

Location Countries


Location Countries


Administrative Informations



Organization ID


Secondary IDs

ID/7462 SFP 1068-12

Responsible Party


Study Sponsor

Nordlandssykehuset HF


 The Royal Norwegian Ministry of Health

Study Sponsor

Ole L Brekke, MD, PhD, Principal Investigator, University of Tromsø, Norway

Verification Date

May 2019