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.
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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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