Porphyria, acute intermittent, nonerythroid variant
MONDO:0700384A HMBS-related hepatic porphyria subtype caused by variants in HMBS exon 1, which is not expressed in erythrocytes, causing HMBS activity in erythrocytes to be at a normal level. The housekeeping promoter produces the HMBS transcript containing exons 1 and 3-15. In contrast, erythrocytes use an erythroid-specific promoter downstream of the housekeeping HMBS promoter to produce a transcript that contains only exons 2-15. Therefore deleterious variants occurring within exon 1 or affecting the splicing of exon 1 to exon 3 do not impact the erythrocyte isozyme, but do impact the more broadly expressed housekeeping isozyme.
169 clinical trials for this condition and its sub-types.
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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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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