U.S., Jan. 8 -- ClinicalTrials.gov registry received information related to the study (NCT07323082) titled 'Purinergic Compounds in Pseudoxanthoma Elasticum' on Dec. 16, 2025.
Brief Summary: Pseudoxanthoma elasticum (PXE) is a rare genetic disorder, transmitted as an autosomal recessive trait, affecting approximately 1 in 50,000 people, predominantly women. It is characterised by progressive calcification of tissues rich in elastic fibres, particularly the skin, retina and arteries. It often begins in young adults and can eventually lead to central blindness, peripheral artery disease, strokes, tendon pain, recurrent kidney stones and visible skin changes.
The diagnosis is based on clinical examination (skin papules, angioid streaks) and ...