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COMPLETED
NCT05050669

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

Sponsor: Inozyme Pharma

View on ClinicalTrials.gov

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.

Official title: A Prospective Observational Study to Evaluate Disease Presentation and Progression in Subjects With ENPP1 Deficiency and the Early-Onset Form of ABCC6 Deficiency

Key Details

Gender

All

Age Range

2 Years - 18 Years

Study Type

OBSERVATIONAL

Enrollment

12

Start Date

2022-06-28

Completion Date

2024-06-26

Last Updated

2026-07-06

Healthy Volunteers

No

Interventions

OTHER

No Intervention for this observational study

No Intervention for this observational study

Locations (5)

Boston Children's Hospital

Boston, Massachusetts, United States

CHOP - Roberts Center for Pediatric Research

Philadelphia, Pennsylvania, United States

Cook Children's Hospital

Fort Worth, Texas, United States

CHU Sainte-Justine

Montreal, Quebec, Canada

Royal Manchester University Hospital

Manchester, Manchester, United Kingdom