For Healthcare Professionals

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

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About the study

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.
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Who can take part

You may be eligible to participate in the study if you meet the following criteria:

INCLUSION CRITERIA

Inclusion Criteria:

Individuals eligible to participate must meet all of the following inclusion criteria:

  1. Must provide written or electronic consent (if able) and/or the consent of the legally authorized representative/caregiver and assent for subjects <18 years of age after the nature of the study has been explained and prior to any research-related procedures, following the policies of the clinical site
  2. Clinical diagnosis of ENPP1 Deficiency or the early-onset form of ABCC6 Deficiency (GACI 2) based on clinical, radiological, or biochemical evidence and confirmed by prior or concurrent genetic testing. The early-onset form of ABCC6 Deficiency is defined as diagnosis of GACI 2 before 5 years of age for subjects of any age at enrollment.
  3. Male or female, birth through adulthood
  4. In the opinion of the Investigator, must be willing and able to complete all aspects of the study
  5. Agree to provide access to relevant medical records.

EXCLUSION CRITERIA

Exclusion Criteria:

Individuals who meet the following exclusion criterion will not be eligible to participate:

  1. 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 [GACI 2]) 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
  2. Receiving any investigational new drug or device or plans to do so before completion of participation in the study. Participation in an interventional trial of an approved drug or device being used in an investigational manner is allowed, depending on review and approval of the Sponsor
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Study Locations

Enter your ZIP code/Postal code/PIN code to locate study sites near you:

How to Apply


Contact the study center to learn if this study is a good match for you.

Study’s details


Contition

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

Age (in years)

1+

Participants needed

30

Est. Completion Date

Dec 31, 2023

Treatment type

Observational


Sponsor

Inozyme Pharma

ClinicalTrials.gov identifier

NCT05050669

Study number

INZ701-003

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