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

NCT01617642 | Active Not Recruiting

• 2 other identifiers: 2011/2197/REKID/7462 SFP 1068-12
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Acute Intermittent Porphyria

Keywords

Porphyria; Inflammation; Diet; Iron status

Outcome Measures

Primary Outcomes (4)

• Blood pressure

  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

  Dietary registration during one week

  Within 2 months after inclusion

• Iron status

  Blood samples for evaluation of iron status

  Within 2 months after inclusion

• Inflammatory status

  Blood samples (cytokines etc) for evaluation of inflammation

  Within 2 months after inclusion

Secondary Outcomes (1)

• Dental health

  Within two months after inclusion

Study Arms (2)

Control group

Healthy control group, matched for age and gender

Acute intermittent porphyria

Patients with acute intermittent porphyria.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• Diagnosed acute intermittent porphyria

You may not qualify if:

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

Sponsors & Collaborators

• Nordlandssykehuset HF: lead
• The Royal Norwegian Ministry of Health: collaborator

Study Sites (1)

Nordlandssykehuset HF

Bodø, Nordland, N-8092, Norway

Location

Related Publications (5)

• 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.

  PMID: 27859020 BACKGROUND

• Storjord 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.

  PMID: 30583995 BACKGROUND

• Henno 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.

  PMID: 28595117 BACKGROUND

• Storjord 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.

  PMID: 36013449 BACKGROUND

• Storjord 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.

  PMID: 38276268 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Serum and plasma from 50 cases With acute intermittent porphyria and age, sex and place of 50 recidence matched controls. Urine samples. Pax tubes for RNA/DNA samples.

MeSH Terms

Conditions

Porphyria, Acute Intermittent; Porphyrias; Inflammation

Condition Hierarchy (Ancestors)

Porphyrias, Hepatic; Liver Diseases; Digestive System Diseases; Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Ole L Brekke, MD, PhD

  University of Tromsø, Norway

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 5, 2012
• First Posted: June 12, 2012
• Study Start: July 1, 2012
• Primary Completion: December 31, 2024
• Study Completion: December 31, 2024
• Last Updated: May 9, 2024

Record last verified: 2024-05

Locations

NO (1)