Clinical trial NCT04923516: Prevalence of Acute Hepatic Porphyria
Official title: Prevalence of Acute Hepatic Porphyria in Population With Suggestive Clinical Picture
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Acute Hepatic Porphyria
Lead sponsor: Association pour la Recherche en Medecine Interne
Sponsor class: NETWORK
First posted: 2021-06-11
Enrollment: 500
Sex: ALL
Minimum age (years): 18
Maximum age (years): 60
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
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.

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.

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).

Primary outcomes:
measure: Binary criterion corresponding to the diagnosis of acute hepatic porphyria (acute hepatic porphyria + / acute hepatic porphyria -) via physiological parameter.
timeFrame: 1 day
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
References: