Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
Completed
Conditions studied: Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets, PXE (Pseudoxanthoma Elasticum)
In brief
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.
Key facts
- Study ID
- NCT07745179
- Run by
- Inozyme Pharma
- People needed
- 23
- Starts
- 2018-12-05
- Expected to finish
- 2025-02-14
- Last updated by the study team
- 2026-08-04
Who can join
Age: 0 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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.
You may not qualify if…
- 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.
Where it is running
- Children's Hospital of Philadelpha — Philadelphia, Pennsylvania, United States
- Centre de References des Maladies Neuromusculaires (CRMN) — La Tronche, France
- Hospices Civils de Lyon — Lyon, France
- Hopital Necker-Enfants Malades — Paris, France
- University Hospital Munster — Münster, Germany
- Birmingham Children's Hospital — Birmingham, United Kingdom
- Evelina London Children's Hospital — London, United Kingdom
- Royal Manchester University Hospital — Manchester, United Kingdom
Full record on ClinicalTrials.gov
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