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

NCT07745179

CompletedN/A

Sponsor: Inozyme Pharma

Conditions: Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets, PXE (Pseudoxanthoma Elasticum)

Countries: United States, France, Germany, United Kingdom

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.

Eligibility overview

Sex: ALL

Age: 1 Day to —

Healthy volunteers: No

Study type: OBSERVATIONAL

Eligibility criteria
Inclusion Criteria

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

1. 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.
2. GACI phenotype confirmed by imaging or biopsy, with mutational analysis demonstrating that each parent carried at least one mutation in ENPP1 and/or ABCC6.
3. Biallelic mutations in ENPP1 and a clinical phenotype consistent with ENPP1 Deficiency.
4. 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.
5. Availability of medical records and source documentation sufficient for retrospective review.

Exclusion Criteria

1. Insufficient medical records, imaging studies, or source documentation to support retrospective data collection.
2. Diagnosis not consistent with ENPP1 Deficiency, GACI, or early-onset ABCC6 Deficiency.
3. Inability to obtain informed consent from the participant or legally authorized representative, as required by local regulations.
Locations (8)
  • Philadelphia, Pennsylvania, United States
  • La Tronche, France
  • Lyon, France
  • Paris, France
  • Münster, Germany
  • Birmingham, United Kingdom
  • London, United Kingdom
  • Manchester, United Kingdom