Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency | NCT07745179

NCT07745179

Overview

NCT ID: NCT07745179
Lead Sponsor: Inozyme PharmaINDUSTRY
Official Title: A Retrospective, Longitudinal Natural History Study of Subjects With ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
Brief Summary: The purpose of this study is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) Deficiency and the early-onset form of adenosine triphosphate binding cassette transporter subfamily C member 6 (ABCC6) Deficiency through retrospective review of medical records and other available data sources. Information collected on medical history, clinical manifestations, radiographic imaging, and other disease-related assessments may be used to support the development of future therapies for these diseases.
Conditions: Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency
ATP-Binding Cassette Subfamily C Member 6 Deficiency
Generalized Arterial Calcification of Infancy

Ages Eligible for Study: Child (0-17)Adult (18-64)Older Adult (65+)
Sexes Eligible for Study: All
Accepts Healthy Volunteers?: No
Eligibility Criteria: Inclusion Criteria

Participants were eligible for inclusion if they met at least one of the following criteria:

Generalized arterial calcification of infancy (GACI) genotype, defined as two pathogenic mutations in ENPP1 and/or ABCC6, confirmed by mutational analysis, and a GACI phenotype confirmed by imaging or biopsy.

GACI phenotype confirmed by imaging or biopsy, with mutational analysis demonstrating that each parent carried at least one mutation in ENPP1 and/or ABCC6.

Biallelic mutations in ENPP1 and a clinical phenotype consistent with ENPP1 Deficiency.

Mutational analysis demonstrating that each parent carried at least one mutation in ENPP1, together with clinical signs and symptoms consistent with ENPP1 Deficiency in the participant.

Availability of medical records and source documentation sufficient for retrospective review.

Exclusion Criteria

Insufficient medical records, imaging studies, or source documentation to support retrospective data collection.

Diagnosis not consistent with ENPP1 Deficiency, GACI, or early-onset ABCC6 Deficiency.

Inability to obtain informed consent from the participant or legally authorized representative, as required by local regulations.

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