Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
Public ClinicalTrials.gov record NCT07745179. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
A Retrospective, Longitudinal Natural History Study of Subjects With ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT07745179
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 23 participants
Conditions and interventions
Eligibility (public fields only)
- Age range
- 1 Day and older
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Dec 4, 2018
- Primary completion
- Jun 7, 2023
- Completion
- Feb 13, 2025
- Last update posted
- Aug 3, 2026
2018 – 2025
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| Children's Hospital of Philadelpha | Philadelphia | Pennsylvania | 19104 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
Non-U.S. locations
This page focuses on the U.S. directory. The official record also lists 7 non-U.S. sites.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT07745179, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Aug 3, 2026 · Synced Sep 3, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT07745179 live on ClinicalTrials.gov.