Prevalence of Acute Hepatic Porphyria (PHA)

Prevalence of Acute Hepatic Porphyria in Population With Suggestive Clinical Picture

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.

Study Overview

• Status: Completed
• Conditions: Acute Hepatic Porphyria
• Intervention / Treatment: Other: Dosage of Delta-aminolevulinic acid and Porphobilinogen

Detailed Description

In this context, this study aims to assess the prevalence of PHA in a population of patients with a suggestive clinical picture. A better knowledge of the pathology will make it possible to better guide patients and prevent them from diagnostic wandering fraught with physical and psychological consequences.

This is an observational, ambispective, transversal, multicenter study carried out in France. The goal is to recruit a cohort that will reflect current practice. 500 patients will be recruted.

• Study Type: Observational
• Enrollment (Actual): 150

Contacts and Locations

Study Locations

• France
  • Paris, France
    • Hopital de La Pitie Salpetriere

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 60 years (Adult)
• Accepts Healthy Volunteers: No

• 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.

Description

Inclusion Criteria:

• 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;

Exclusion Criteria:

• 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).

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Association pour la Recherche en Medecine Interne

Study record dates

Study Major Dates

• Study Start (Actual): August 23, 2021
• Primary Completion (Actual): December 29, 2023
• Study Completion (Actual): December 29, 2023

Study Registration Dates

• First Submitted: June 8, 2021
• First Submitted That Met QC Criteria: June 8, 2021
• First Posted (Actual): June 11, 2021

Study Record Updates

• Last Update Posted (Actual): January 28, 2026
• Last Update Submitted That Met QC Criteria: January 27, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Metabolic Diseases; Digestive System Diseases; Liver Diseases; Skin Diseases; Skin Diseases, Genetic; Porphyrias, Hepatic; Porphyrias; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Coproporphyria, Hereditary; Heterocyclic Compounds, 1-Ring; Heterocyclic Compounds; Azoles; Pyrroles; Porphobilinogen
• Other Study ID Numbers: 2021-A00566-35

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No