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

Generalized Arterial Calcification of Infancy Clinical Trial

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

Status Not yet recruiting

Clinical Trial Summary

The purpose of this prospective study is to characterize the natural history of ENPP1 Deficiency (including Generalized Arterial Calcification of Infancy Type 1 [GACI] and Autosomal Recessive Hypophosphatemic Rickets Type 2 [ARHR2]) and the early-onset form of ABCC6 Deficiency (Generalized Arterial Calcification of Infancy Type 2 [GACI-2]) longitudinally.

Clinical Trial Description

Study INZ701-003 is a multicenter, prospective, longitudinal, observational study to evaluate disease presentation and progression in infant, pediatric, and adult subjects with ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency. The study will gather information about the biochemical, physiological, anatomic, radiographic, and functional manifestations (including patient reported outcomes [PROs]) of each disease. Subjects will receive the current standard of care available at the clinical site along with additional assessments administered by the study team. Subject participation will consist of a Screening Period and an Observational Period. During the Screening Period, eligibility will be determined. A subject will be enrolled into the study if they meet all eligibility criteria. During the Observational Period, subjects will be assessed for changes in their disease in the following areas: measurements of physiological function (including laboratory testing, anatomical and radiographical assessment of calcification and bone mineralization, performance outcomes, patient, caregiver, and physician reported outcomes) and healthcare utilization. The type and timing of assessments will be based on the age of the subject at the time of testing. ;

Related Conditions & MeSH terms

• Autosomal Recessive Hypophosphatemic Rickets
• Calcinosis
• Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
• Familial Hypophosphatemic Rickets
• Generalized Arterial Calcification of Infancy
• Pseudoxanthoma Elasticum
• Rickets

• NCT number: NCT05050669
• Study type: Observational
• Source: Inozyme Pharma
• Contact: Inozyme Clinical Trial Information
• Phone: +1 857 330 4340
• Email: clinicaltrials@inozyme.com
• Status: Not yet recruiting
• Start date: January 2022
• Completion date: December 2023