Rare disease detection: new study measures porphyria prevalence in symptomatic patients
NCT ID NCT04923516
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This completed study aimed to find out how many patients with a certain set of symptoms actually have acute hepatic porphyria (AHP), a rare metabolic disorder. Researchers enrolled 150 adults aged 18 to 60 who had severe abdominal pain along with neurological symptoms like limb weakness, anxiety, or rapid heartbeat. They used urine tests to measure specific substances (delta-aminolevulinic acid and porphobilinogen) to confirm or rule out AHP. The goal was to improve diagnosis in patients whose initial tests for other conditions came back negative.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could help doctors better identify acute hepatic porphyria in patients with unexplained abdominal pain and neurological symptoms.
- What could go wrong
- This is an observational study, not a treatment trial, so it won't directly improve patient outcomes. The small sample size (150) may limit how well the findings apply to broader populations.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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150 people
The number who actually took part.
- Started
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Aug 2021
- Finished
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Dec 2023
- Lead sponsor
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A research network
The lead sponsor is a research network or cooperative group.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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18 to 60 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
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Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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).
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Hôpital de la Pitié Salpêtrière
Paris, France
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