NCT07745179
ATP-Binding Cassette Subfamily C Member 6 Deficiency, Ectonucleotide Pyrophosphatase/Phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy, PXE (Pseudoxanthoma Elasticum)
The below information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. and has not been edited.
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.
All
From 1 Day
No
Observational
23
2018-12-05
2026-08-04
Philadelphia, Pennsylvania, United States
La Tronche, France
Lyon, France
Paris, France
Münster, Germany
Birmingham, United Kingdom
London, United Kingdom
Manchester, United Kingdom
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.
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