Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency

The purpose of this study is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency and the early-onset form of adenosine triphosphate binding cassette transporter subfamily C member 6 (ABCC6) Deficiency through retrospective review of medical records and other available data sources. Information collected on medical history, clinical manifestations, radiographic imaging, and other disease-related assessments may be used to support the development of future therapies for these diseases.

NCT Number	NCT07745179
Lead Sponsor	Inozyme Pharma
Conditions	Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets, PXE (Pseudoxanthoma Elasticum)
Enrollment	23 participants
Start Date	2018-12-05
Primary Completion	2023-06-08 (estimated)
Study Completion	2025-02-14 (estimated)
Updated on ClinicalTrials.gov	2026-08-04