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Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 Deficiency

NCT05050669 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 12

Last updated 2024-09-19

No results posted yet for this study

Summary

The purpose of this prospective study is to characterize the natural history of ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency longitudinally. The study will prospectively gather information about the biochemical, physiological, anatomic, radiographic, and functional manifestations (including patient reported outcomes) of each disease.

Conditions

  • Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
  • ATP-Binding Cassette Subfamily C Member 6 Deficiency
  • Generalized Arterial Calcification of Infancy
  • Autosomal Recessive Hypophosphatemic Rickets

Interventions

OTHER

No Intervention for this observational study

No Intervention for this observational study

Sponsors & Collaborators

  • Inozyme Pharma

    lead INDUSTRY

Principal Investigators

  • Kurt Gunter, MD · Inozyme Pharma, Inc.

Eligibility

Min Age
2 Years
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-04-27
Primary Completion
2023-08-17
Completion
2024-06-26

Countries

  • United States
  • Canada
  • United Kingdom

Study Locations

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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 NCT05050669 on ClinicalTrials.gov