Prevalence of Acute Hepatic Porphyria

NCT04923516 | Completed

• 1 other identifier: 2021-A00566-35
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

Brief Summary

To determine the proportion of patients suffering from acute hepatic porphyria (AHP) from different hospital departments and referred to an internist referent for a suggestive clinical picture with a first negative etiological assessment.

Conditions

Acute Hepatic Porphyria

Outcome Measures

Primary Outcomes (1)

• Binary criterion corresponding to the diagnosis of acute hepatic porphyria (acute hepatic porphyria + / acute hepatic porphyria -) via physiological parameter.

  The diagnosis of acute hepatic porphyria is based on urine testing of the neurotoxic precursors of haem: Delta-aminolevulinic acid and Porphobilinogen. A patient will be considered to have acute hepatic porphyria (acute hepatic porphyria +) if: * Delta-aminolevulinic acid ≥ 3 µmol / mol Cr And or * Porphobilinogen ≥ 1 µmol / mol Cr Otherwise, the patient will be considered to be acute hepatic porphyria free (acute hepatic porphyria -).

  1 day

Interventions

Dosage of Delta-aminolevulinic acid and Porphobilinogen OTHER

Results of dosages of Delta-aminolevulinic acid and Porphobilinogen which are performed in accordance with the current practice will be recorded

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Probability Sample

Study Population

The target population is made up of patients presenting signs suggestive of acute hepatic porphyria or recently diagnosed, from consultations with gastroenterologists, emergency physicians, neurologists, gynecologists, internists or other specialties, referred to an acute hepatic porphyria referent internist participating in the study, within the framework of of the etiological exploration of their clinical picture.

You may qualify if:

• Man or woman aged 18 to 60;
• Presenting severe abdominal pain, afebrile and diffuse over several days, evolving for less than 5 years;
• With at least one of the following symptoms:
• Peripheral neurological symptoms: decreased driving force and pain in the limbs (roots of the thighs), etc. ;
• Central neurological symptoms: psychiatric (depression, anxiety, insomnia), disturbances of consciousness, etc. ;
• Autonomous neurological symptoms: tachycardia, nausea, vomiting, constipation, etc.
• With a first negative etiological assessment requested by an emergency physician, gastroenterologist, gynecologist, neurologist, internist or another specialty, or with a diagnosis of acute hepatic porphyria less than 6 months;
• Patient able to understand the information related to the study and having indicated his non-objection to the collection of data concerning him;

You may not qualify if:

• Patient with a diagnosis of acute hepatic porphyria for more than 6 months;
• Patient unfit to participate in the study, due to cognitive or linguistic difficulties;
• Protected patient (under legal protection, or deprived of liberty by judicial or administrative decision).

Sponsors & Collaborators

• Association pour la Recherche en Medecine Interne: lead

Study Sites (1)

Hôpital de la Pitié Salpêtrière

Paris, France

Location

MeSH Terms

Conditions

Coproporphyria, Hereditary

Interventions

Porphobilinogen

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

Intervention Hierarchy (Ancestors)

Pyrroles; Azoles; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 8, 2021
• First Posted: June 11, 2021
• Study Start: August 23, 2021
• Primary Completion: December 29, 2023
• Study Completion: December 29, 2023
• Last Updated: January 28, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)