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Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 Deficiency
Sponsor: Inozyme Pharma
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
Conditions
Interventions
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