Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment

NCT06273644 | Recruiting

• 1 other identifier: HNF1719-24
• Study Type: interventional
• Target: 50
• Locations: 2 countries
• Sites: 3

Brief Summary

The main aim of this clinical trial is to learn about the effect of carbohydrate-rich diet as a treatment for AIP (acute intermittent porphyria). Aim: Investigate the diet's impact on tissue and serum glucose, plasma insulin, cytokine levels, amino acids, and gut microbiota in AIP, and their correlation with PBG (Porphobilinogen). Aim: Assess the diet's effect on AIP symptoms and health status in AIP. Aim: Measure the effect of a high-carbohydrate diet on mitochondrial activity in AIP Aim: Map and detect potential mutations in mitochondrial genomic DNA in AIP Aim: Discover new markers in AIP through RNA sequencing and machine learning. Participants will follow two diet plans, a 4-week intervention with 60-65 E% carbohydrates and a 4 week intervention with 40-45 E% carbohydrates.

Conditions

Porphyria, Acute Intermittent

Outcome Measures

Primary Outcomes (2)

• Change in Urine Porphobilinogen/creatinine

  AIP biochemical disease activity. First morning Urine Porphobilinogen/creatinine. Change from baseline before diet A to immediately after diet A, and change from baseline before diet B to immediately after diet B

  Baseline before diet A and immediately after the 4 weeks of diet A, baseline before diet B and immediately after the 4 weeks of diet B

• Urine Porphobilinogen/creatinine concentration, percentage change of repeated measurements

  AIP biochemical disease activity, repeated measurements Percentage change in the median of repeated measurements of Urine Porphobilinogen/creatinine concentrations between Diet A and Diet B The repeated measurements in urine analyzed in urine samples from Day 1 ,4, 8, 11, 15, 18, 22, 25 and 29 of Diet A and of Diet B, and calculated median of Urine Porphobilinogen/creatinine concentration for diet A and median for diet B

  Day 1 ,4, 8, 11, 15, 18, 22, 25 and 29 of Diet Intervention A and of Diet Intervention B

Secondary Outcomes (18)

• Number of Hospitalizations,sick leaves, and doctor visits due to AIP

  Baseline before diet A and immediately after the 4 weeks of diet A, baseline before diet B and immediately after the 4 weeks of diet B

• Health status

  Baseline before diet A and immediately after the 4 weeks of diet A, baseline before diet B and immediately after the 4 weeks of diet B

• Plasma Glucose level

  Baseline before diet A and immediately after the 4 weeks of diet A, baseline before diet B and immediately after the 4 weeks of diet B

• Interstitial fluid glucose level

  Day 15 and 29 of diet A and day 15 and 29 of diet B

• Number of hypoglycemic events

  Day 15 and 29 of diet A and day 15 and 29 of diet B

Study Arms (2)

60-65 E% Carbohydrates

EXPERIMENTAL

Diet plan A with 60-65 E% Carbohydrates in 4 weeks

Other: Carbohydrates

40-45% Carbohydrates

ACTIVE COMPARATOR

Diet plan B with 40-45 E% Carbohydrates in 4 weeks

Other: Carbohydrates

Interventions

Carbohydrates OTHER

Half of the patients will initially follow Diet Plan A with 60-65 E% carbohydrates for 4 weeks, followed by a 4-week washout period, and then Diet Plan B with 40-45 E% carbohydrates for 4 weeks. The other half will start with Diet Plan B for 4 weeks, followed by a 4-week washout period, and then Diet Plan A for 4 weeks . Diet Plans A and B contain recommended and adequate nutrients according to the Nordic Nutrition Recommendations 2023 (NNR2023) for maintaining a stable weight.

40-45% Carbohydrates; 60-65 E% Carbohydrates

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Diagnosis of AIP

You may not qualify if:

• Not having diagnosis of AIP
• Undergoing treatment as part of other clinical research on AIP
• Pregnancy
• Diabetes
• Below 18 years of age

Sponsors & Collaborators

• University of Oslo: collaborator
• Nord University: collaborator
• UiT The Arctic University of Norway: collaborator
• The University of Texas Medical Branch, Galveston: collaborator
• Karolinska University Hospital: collaborator
• Norrlands Universitetssjukhus, Umea, Sweden: collaborator
• Nordlandssykehuset HF: lead
• Norwegian University of Science and Technology: collaborator

Study Sites (3)

Nordland Hospital Trust

Bodø, Nordland, 8092, Norway

RECRUITING

Studieenheten, Akademiskt Specialistcentrum, Stockholm läns sjukvårdsområde, Region Stockholm

Stockholm, Sweden

RECRUITING

Norrland University Hospital

Umeå, Sweden

RECRUITING

MeSH Terms

Conditions

Porphyria, Acute Intermittent

Interventions

Carbohydrates

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; Porphyrias; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Elin Storjord, MD PhD

  Nordlandssykehuset HF

  PRINCIPAL INVESTIGATOR

• Per Dahlqvist, MD PhD

  Norrland University Hospital, Umeå

  PRINCIPAL INVESTIGATOR

• Eliane Sardh, MD PhD

  Studieenheten, Akademiskt Specialistcentrum, Stockholm Läns Sjukvårdsområde, Region Stockholm

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Elin Storjord, MD PhD

CONTACT

97072484; elin.storjord@nordlandssykehuset.no

Hilde Thunhaug, Nurse

CONTACT

95057864; hilde.thunhaug@nordlandssykehuset.no

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: DOUBLE
• Who Masked: INVESTIGATOR, OUTCOMES ASSESSOR
• Masking Details: Blinding is attempted by labeling the provided diet plans as A and B. The physician recording outcome variables and the researcher performing statistical analysis are blinded to the given diet.
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: The study is a crossover study involving 50 individuals with AIP. The study design was chosen to determine whether the treatment has an effect compared to baseline analyses and whether the sequence of treatment has an effect, as well as whether one of the interventions is more effective than the other.

Study Record Dates

• First Submitted: February 8, 2024
• First Posted: February 22, 2024
• Study Start: January 27, 2024
• Primary Completion (Estimated): October 31, 2027
• Study Completion (Estimated): December 31, 2037
• Last Updated: March 27, 2026

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• Time Frame: Immediately following each publication. Until 31 of December 2037
• Access Criteria: Reasonable request

Locations

SE (2); NO (1)