ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE1 DEFICIENCY
Clinical trials for ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE1 DEFICIENCY explained in plain language.
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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…
Matched conditions: ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE1 DEFICIENCY
Sponsor: Inozyme Pharma • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC
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Rare disease detectives: new study maps how two genetic conditions unfold in children
Knowledge-focused CompletedThis study follows children aged 2 to 18 with confirmed ENPP1 deficiency or early-onset ABCC6 deficiency to understand how these rare diseases progress. Researchers will measure blood markers, check for calcification in arteries and organs, and track bone health and movement over…
Matched conditions: ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE1 DEFICIENCY
Sponsor: Inozyme Pharma • Aim: Knowledge-focused
Last updated Jul 08, 2026 00:00 UTC