Prevalence of Acute Hepatic Porphyria

NCT ID: NCT04923516

Last Updated: 2026-01-28

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 150 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-08-23
• Study Completion Date: 2023-12-29

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.

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.

Conditions

Acute Hepatic Porphyria

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Interventions

Dosage of Delta-aminolevulinic acid and Porphobilinogen

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

Intervention Type: OTHER

Eligibility Criteria

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).

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 60 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Association pour la Recherche en Medecine Interne

NETWORK

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Hôpital de la Pitié Salpêtrière

Paris, , France

Countries

France

Other Identifiers

2021-A00566-35

Identifier Type: -

Identifier Source: org_study_id