PPOX-related hepatic porphyria
MONDO:0700383A hepatic porphyria (or variegate porphyria) caused by monoallelic and biallelic variants in PPOX, presenting as a spectrum of disease (a semidominant inheritance pattern). Cases caused by monoallelic variants may have onset during adolescence or adulthood and are episodic characterized by abdominal pain, constipation, vomiting, muscular paralysis, and psychosis. Other symptoms may include abnormal blistering of the skin, cutaneous photosensitivity, and neuropathy. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases caused by biallelic variants, which reduce enzyme activity to <25% of normal, typically result in child or adolescent onset with greater severity. Symptoms for this extend to brachydactyly, clinodactyly, intellectual disability, nystagmus, myopia, growth retardation, and hyperpigmentation.
Also known as: PPOX-related hepatic porphyria
171 clinical trials for this condition and its sub-types.
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Broader categories
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Blood RNA may reveal hidden liver cancers
Diagnosis TerminatedThis study looked at whether tiny bits of RNA in the blood can serve as markers for liver disease and liver cancer. Researchers collected blood samples from nearly 1,900 people with liver cancer, cirrhosis, or chronic liver disease. The goal was to see if these RNA markers could …
Sponsor: Mayo Clinic • Aim: Diagnosis
Last updated Jun 27, 2026 12:29 UTC
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Porphyria prevention study halted early – little data to go on
Prevention TerminatedThis small phase 2 trial tested whether the drug Panhematin could prevent acute attacks in people with certain types of porphyria. Only 13 participants were enrolled before the study was terminated early. Researchers tracked attacks and serious side effects, but the limited data …
Phase: PHASE2 • Sponsor: The University of Texas Medical Branch, Galveston • Aim: Prevention
Last updated Jun 27, 2026 09:00 UTC
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Ear device aims to cut opioid use after liver transplant
Symptom relief TerminatedThis study tested a small device worn on the ear that uses mild electrical pulses to help control pain after a liver transplant. The goal was to see if it could reduce the need for strong painkillers like opioids. The study was stopped early and included 27 adults waiting for a l…
Phase: NA • Sponsor: Duke University • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Liver study of cancer drug amcenestrant halted early
Knowledge-focused TerminatedThis early-stage study looked at how the drug amcenestrant is processed in the body of women aged 40-75 with mild or moderate liver problems, compared to women with healthy livers. The goal was to understand dosing and safety. However, the trial was terminated before completion, …
Phase: PHASE1 • Sponsor: Sanofi • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:51 UTC