NCT05050669

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

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 12 (actual)
• Sponsor: Inozyme Pharma · Industry
• Sex: All
• Age: 2 Years – 18 Years
• Healthy volunteers: Not accepted

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.

Detailed description

Study INZ701-003 is a multicenter, prospective, longitudinal, observational study to evaluate disease presentation, progression, and burden of illness in pediatric subjects aged 2 to \<18 years with ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency. Subjects will receive care available at the clinical site along with additional assessments administered by the study team. To participate in this study, subjects will give informed assent and parents/guardians will provide informed consent. Subject participation will consist of a Screening Period and an Observation Period. Assessments will be performed at each visit as indicated in the Schedule of Events. During the Screening Period, assessments will be performed to determine eligibility. Screening and Baseline assessments may be conducted on the same day if the Investigator determines that the patient can successfully complete all study procedures in one day due to their age. If not, sites may schedule additional visits, as needed. A subject will be enrolled into the study if they meet all eligibility criteria. During the Observation Period, subjects will be assessed for changes in their disease in the following areas: measurements of physiological function (including laboratory testing and anatomical and radiographical assessment of calcification and bone mineralization); performance outcomes; patient, caregiver, and physician reported outcomes; and healthcare utilization.

Conditions

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

Interventions

Type	Name	Description
OTHER	No Intervention for this observational study	No Intervention for this observational study

Timeline

• Start date: 2022-04-27
• Primary completion: 2023-08-17
• Completion: 2024-06-26
• First posted: 2021-09-20
• Last updated: 2024-09-19

Locations

5 sites across 3 countries: United States, Canada, United Kingdom