Acute intermittent porphyria
MONDO:0008294Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.
Also known as: acute intermittent porphyria, AIP, HMBS deficiency, PBGD deficiency, UPS deficiency, hydroxymethylbilane synthase deficiency, porphobilinogen deaminase deficiency, porphyria, Chester type
4 clinical trials for this condition and its sub-types.
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Could a Carb-Heavy diet tame a rare blood disorder?
Disease control Recruiting nowThis study is testing whether eating a diet rich in carbohydrates (60-65% of daily calories) can help people with acute intermittent porphyria (AIP), a rare genetic disorder that causes severe attacks of pain and other symptoms. Fifty adults with AIP will try two different diet p…
Phase: NA • Sponsor: Nordlandssykehuset HF • Aim: Disease control
Last updated Jun 27, 2026 12:01 UTC
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Scientists launch Largest-Ever porphyria watch: 1,500 patients tracked for clues
Knowledge-focused Recruiting nowThis study follows 1,500 people with porphyria over many years to learn how the disease progresses, what symptoms appear, and how it affects pregnancy and lifespan. Researchers will collect medical records and lab results to create a clearer picture of the condition. No new treat…
Sponsor: The American Porphyrias Expert Collaborative • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC