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Autosomal recessive inherited pseudoxanthoma elasticum

MONDO:0009925

An 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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Broader categories

Disease (680) Hereditary disease (176) Connective tissue disorder (68) Human disease (14) Autosomal recessive disease (4) Pseudoxanthoma elasticum (inherited or acquired) (4) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 3 Not yet finished but already full! 1 Completed 2
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  • New hope for babies with rare calcification disease: first drug trial launches

    Disease control Ongoing

    This study tests a new drug called INZ-701 in up to 16 infants (up to 1 year old) with rare genetic conditions (ENPP1 or ABCC6 deficiency) that cause dangerous calcium buildup in arteries and other problems. The main goal is to check the drug's safety and how the body handles it,…

    Phase: PHASE1 • Sponsor: Inozyme Pharma • Aim: Disease control

    Last updated Aug 12, 2026 00:00 UTC

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