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
6 clinical trials for this condition and its sub-types.
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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