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

Completed

Conditions studied: Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets, Adenosine Triphosphate Binding Cassette Transporter Protein Subfamily C Member 6

In brief

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.

Key facts

Study ID

NCT05050669

Run by

Inozyme Pharma

People needed

12

Starts

2022-06-28

Expected to finish

2024-06-26

Last updated by the study team

2026-07-06

Who can join

Age: 2 and older, up to 18. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Individuals eligible to participate must meet all of the following inclusion criteria:
• Must provide written consent of the legally authorized representative/caregiver and assent for subjects after the nature of the study has been explained and prior to any research-related procedures, following the policies of the clinical site
• Genetic confirmation of ENPP1 Deficiency or ABCC6 Deficiency
• Male or female, aged 2 to <18 years
• In the opinion of the Investigator, must be willing and able to complete all aspects of the study
• Agree to provide access to relevant medical records

You may not qualify if…

• Individuals who meet the following exclusion criterion will not be eligible to participate:
• In the opinion of the Investigator and/or Sponsor, presence of any clinically significant disease (outside of those considered associated with the diagnosis of ENPP1 Deficiency or the early-onset form of ABCC6 Deficiency) that precludes study participation or may confound interpretation of study results, such as an unrelated bone, mineral, or muscle disease or genetic connective tissue disease

Where it is running

• 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

Full record on ClinicalTrials.gov

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