PrP systemic amyloidosis
MONDO:0018339Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid.
Also known as: chronic diarrhea with HSAN, chronic diarrhea with hereditary sensory and autonomic neuropathy, chronic diarrhoea with HSAN, chronic diarrhoea with hereditary sensory and autonomic neuropathy, prion protein systemic amyloidosis
34 clinical trials for this condition and its sub-types.
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Rural patients get Hospital-Level care at home in landmark trial
Disease control CompletedThis study looked at whether giving hospital-level care to acutely ill adults in their own homes in rural areas works well. 160 people with various conditions like infections, heart failure, or COPD took part. The goal was to see if this approach could lower costs and help patien…
Phase: NA • Sponsor: Brigham and Women's Hospital • Aim: Disease control
Last updated Jun 27, 2026 07:57 UTC
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New rapid test for infection and inflammation put to the test
Diagnosis CompletedThis study looked at how well a new, quick finger-prick test (LumiraDx CRP) measures CRP levels compared to a standard lab test. CRP is a marker of infection, inflammation, or tissue injury. 79 adults with symptoms of these conditions took part. The goal was to see if the new tes…
Sponsor: LumiraDx UK Limited • Aim: Diagnosis
Last updated Jun 27, 2026 13:07 UTC
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One-Hour brain infection test could save lives
Diagnosis CompletedThis study tested a new rapid diagnostic panel called QIAstat-Dx that can detect 15 different bacteria, viruses, and fungi causing meningitis and encephalitis in just one hour. Researchers compared its accuracy against standard lab tests using 170 stored spinal fluid samples. If …
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna • Aim: Diagnosis
Last updated Jun 27, 2026 08:05 UTC
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New PET scan technique aims to sniff out hidden infections
Diagnosis CompletedThis early study tested whether a special PET scan using a radioactive form of vitamin B9 (11C-PABA) can help doctors see infections deep inside the body. Researchers scanned 13 healthy people and patients with known or suspected infections. The goal was to see if this method can…
Sponsor: Johns Hopkins University • Aim: Diagnosis
Last updated Jun 27, 2026 08:03 UTC
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ICU antibiotic dosing: what really matters?
Knowledge-focused CompletedThis study looked at 156 critically ill patients to find out what factors help achieve the right levels of beta-lactam antibiotics in the blood. Researchers collected clinical data and used therapeutic drug monitoring to see which patients reached target concentrations. The goal …
Sponsor: Centre Hospitalier Universitaire de Nīmes • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC