Pseudoxanthoma elasticum (inherited or acquired)
MONDO:0024308An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract.
Also known as: PXE, pseudoxanthoma elasticum
6 clinical trials for this condition and its sub-types.
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Broader categories
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Can medical records unlock the secrets of rare calcification diseases?
Knowledge-focused CompletedThis study looks back at medical records of people with two rare genetic conditions—ENPP1 deficiency and the early-onset form of ABCC6 deficiency—to map how these diseases progress over time. By collecting information on symptoms, imaging, and growth, researchers hope to better u…
Sponsor: Inozyme Pharma • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC
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Rare disease mystery: scientists track GACI and ARHR2 to unlock clues
Knowledge-focused CompletedThis completed study looked at the natural course of two ultra-rare genetic disorders: GACI and ARHR2. Researchers collected medical records and blood samples from 48 affected individuals and their family members. The goal was to better understand how these diseases progress over…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jul 18, 2026 00:00 UTC