Autosomal recessive inherited pseudoxanthoma elasticum
MONDO:0009925An autosomal recessive form of PXE.
Also known as: AR inherited pseudoxanthoma elasticum, Gronblad-Strandberg syndrome, Gronblad-Strandberg-Touraine syndrome, PXE, Pseudoxanthoma Elasticum, Gronblad Strandberg syndrome, PXE, modifier of severity of, pseudoxanthoma elasticum
7 clinical trials for this condition and its sub-types, 7 tagged with Autosomal recessive inherited pseudoxanthoma elasticum itself.
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New care pathways could improve life for rare disease patients
Disease control Recruiting nowThis study looks at whether offering personalized follow-up, including video visits, helps more people with pseudoxanthoma elasticum (PXE) get proper care. PXE causes calcium buildup in skin, eyes, and blood vessels, leading to vision loss and other problems. The researchers will…
Sponsor: University Hospital, Angers • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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New study aims to unlock secrets of rare calcification disease
Knowledge-focused Recruiting nowThis study looks at how certain natural chemicals in the body affect blood vessel health in people with pseudoxanthoma elasticum (PXE), a rare genetic disease that causes calcium buildup in tissues. Researchers will measure levels of these chemicals in 45 adults with PXE to bette…
Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:24 UTC
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New eye scan may spot early damage in rare genetic disease
Knowledge-focused Recruiting nowThis study looks at whether a special eye scan can detect early blood flow changes in the retina of people with pseudoxanthoma elasticum (PXE), a rare genetic disease that can cause vision loss. Researchers will compare 30 PXE patients with 30 healthy volunteers matched by age an…
Sponsor: University Hospital, Angers • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC