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

This study is not yet open for participant recruitment. (see Contacts and Locations)
Verified June 2012 by Nordlandssykehuset HF
Sponsor:
Collaborator:
The Royal Norwegian Ministry of Health
Information provided by (Responsible Party):
Nordlandssykehuset HF
ClinicalTrials.gov Identifier:
NCT01617642
First received: June 5, 2012
Last updated: June 8, 2012
Last verified: June 2012
  Purpose

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.


Condition
Acute Intermittent Porphyria

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)

Resource links provided by NLM:


Further study details as provided by Nordlandssykehuset HF:

Primary Outcome Measures:
  • Blood pressure [ Time Frame: Within 2 months after inclusion ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    Dietary registration during one week

  • Iron status [ Time Frame: Within 2 months after inclusion ] [ Designated as safety issue: No ]
    Blood samples for evaluation of iron status

  • Inflammatory status [ Time Frame: Within 2 months after inclusion ] [ Designated as safety issue: No ]
    Blood samples (cytokines etc) for evaluation of inflammation


Secondary Outcome Measures:
  • Dental health [ Time Frame: Within two months after inclusion ] [ Designated as safety issue: No ]
    Evaluate dental health through clinical examination


Biospecimen Retention:   Samples With DNA

Serum and plasma. Urine samples. Pax tubes for RNA/DNA samples.


Estimated Enrollment: 150
Study Start Date: July 2012
Estimated Study Completion Date: December 2021
Estimated Primary Completion Date: August 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts
Control group
Healthy control group, matched for age and gender
Acute intermittent porphyria
Patients with acute intermittent porphyria.

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.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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

Criteria

Inclusion Criteria:

  • Diagnosed acute intermittent porphyria

Exclusion Criteria:

  • Regulatory use of antiinflammatory drugs including steroids and NSAIDS
  • Lacking consent competence
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01617642

Contacts
Contact: Ole L Brekke, MD, PhD +47 75578365 ole.lars.brekke@nlsh.no
Contact: Elin Storjord, MD +47-7558362 elin.storjord@nlsh.no

Locations
Norway
Nordlandssykehuset HF Not yet recruiting
Bodø, Nordland, Norway, N-8092
Contact: Ole L Brekke, MD, PhD    +47 75578365    ole.lars.brekke@nlsh.no   
Principal Investigator: Ole L Brekke, MD, PhD         
Sub-Investigator: Elin Storjord, MD         
Sub-Investigator: Tom E Mollnes, MD, PhD         
Sponsors and Collaborators
Nordlandssykehuset HF
The Royal Norwegian Ministry of Health
Investigators
Principal Investigator: Ole L Brekke, MD, PhD University of Tromsø, Norway
  More Information

No publications provided

Responsible Party: Nordlandssykehuset HF
ClinicalTrials.gov Identifier: NCT01617642     History of Changes
Other Study ID Numbers: 2011/2197/REK, ID/7462 SFP 1068-12
Study First Received: June 5, 2012
Last Updated: June 8, 2012
Health Authority: Norway:National Committee for Medical and Health Research Ethics

Keywords provided by Nordlandssykehuset HF:
Porphyria
Inflammation
Diet
Iron status

Additional relevant MeSH terms:
Porphyrias
Porphyria, Erythropoietic
Porphyria, Acute Intermittent
Porphyrias, Hepatic
Inflammation
Pathologic Processes
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Skin Diseases, Metabolic
Skin Diseases
Metabolic Diseases
Skin Diseases, Genetic
Liver Diseases
Digestive System Diseases

ClinicalTrials.gov processed this record on July 20, 2014