RecruitingNCT01561157
Metabolic
Acute Intermittent Porphyria
Also known as AIP, HMBS deficiency, porphobilinogen deaminase deficiency, Swedish porphyria
Acute intermittent porphyria (AIP) is the most common acute hepatic porphyria, caused by mutations in the HMBS gene encoding hydroxymethylbilane synthase, resulting in haem biosynthesis dysfunction. Patients experience attacks of severe abd
ORPHA:79276 ↗Gene HMBSPrevalence 1-5 per 10,000 (Orphanet)Onset Adolescent, AdultAutosomal dominant genetic
3
studies recruiting now
as of 7 Sept 2026
22
studies registered in total
as of 7 Sept 2026
3
countries with a recruiting site
as of 7 Sept 2026
22 Feb 2024
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNot applicableNCT06273644
Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
RecruitingNCT05502133
Identification of Acute Intermittent Porphyria Modifying Genes
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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About Acute Intermittent Porphyria
Acute intermittent porphyria (AIP) is the most common acute hepatic porphyria, caused by mutations in the HMBS gene encoding hydroxymethylbilane synthase, resulting in haem biosynthesis dysfunction. Patients experience attacks of severe abdominal pain, neurological dysfunction, and autonomic instability triggered by factors including certain drugs, fasting, hormonal changes, and stress. Givosiran (Givlaari), an RNA interference therapy targeting ALAS1, is approved for recurrent attacks.
Common clinical features
Severe abdominal painPeripheral neuropathyAutonomic dysfunctionDark red/brown urineHyponatremiaSeizuresPsychiatric symptoms
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Givosiran
Phase 2Hemin
Before you apply
Things trial teams commonly ask about for Acute Intermittent Porphyria. Not eligibility rules; those are set by each study.
- Attack frequency in the prior 12 months (typically 2 or more) is the standard inclusion criterion for acute porphyria trials
- Urinary aminolevulinic acid (ALA) and porphobilinogen (PBG) levels are required biomarkers — collect during both attacks and between attacks
- Givosiran (Givlaari) is approved — trials may study alternative RNAi therapies, hemin formulations, or combination approaches
- Drug interaction lists are critical — many common medications are porphyrinogenic and must be reviewed with trial coordinators
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).