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

January 20, 2023 updated by: Nordlandssykehuset HF
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.

Study Overview

Status

Active, not recruiting

Conditions

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 Type

Observational

Enrollment (Actual)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Norway
    • Nordland
      • Bodø, Nordland, Norway, N-8092
        • Nordlandssykehuset HF

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

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

Description

Inclusion Criteria:

  • Diagnosed acute intermittent porphyria

Exclusion Criteria:

  • Regulatory use of antiinflammatory drugs including steroids and NSAIDS
  • Lacking consent competence

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Control group
Healthy control group, matched for age and gender
Acute intermittent porphyria
Patients with acute intermittent porphyria.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Within 2 months after inclusion
Diet registration
Time Frame: Within 2 months after inclusion
Dietary registration during one week
Within 2 months after inclusion
Iron status
Time Frame: Within 2 months after inclusion
Blood samples for evaluation of iron status
Within 2 months after inclusion
Inflammatory status
Time Frame: Within 2 months after inclusion
Blood samples (cytokines etc) for evaluation of inflammation
Within 2 months after inclusion

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Dental health
Time Frame: Within two months after inclusion
Evaluate dental health through clinical examination
Within two months after inclusion

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Nordlandssykehuset HF

Collaborators

The Royal Norwegian Ministry of Health

Investigators

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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 1, 2012

Primary Completion (Anticipated)

December 31, 2023

Study Completion (Anticipated)

December 31, 2023

Study Registration Dates

First Submitted

June 5, 2012

First Submitted That Met QC Criteria

June 8, 2012

First Posted (Estimate)

June 12, 2012

Study Record Updates

Last Update Posted (Actual)

January 23, 2023

Last Update Submitted That Met QC Criteria

January 20, 2023

Last Verified

January 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2011/2197/REK
  • ID/7462 SFP 1068-12 (Other Grant/Funding Number: Northern Norway Regional Health Authority)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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