MedTrace Logo

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

NCT07745179 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 23

Last updated 2026-08-04

No results posted yet for this study

Summary

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.

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)

Sponsors & Collaborators

  • Inozyme Pharma

    lead INDUSTRY

Eligibility

Min Age
1 Day
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-12-05
Primary Completion
2023-06-08
Completion
2025-02-14

Countries

  • United States
  • France
  • Germany
  • United Kingdom

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07745179 on ClinicalTrials.gov