Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency (NCT07745179) | Clinical Trial Compass
CompletedNot Applicable
Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency
United States, France, Germany23 participantsStarted 2018-12-05
Plain-language 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.
Who can participate
Age range
1 Day
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion 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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Participants with Ectopic Calcification
Timeframe: Retrospective assessment of available historical records collected from birth through informed consent, loss to follow-up, or death, whichever occurred first (up to approximately 33 years).
2
Participants With Disease-Related Skeletal Abnormalities
Timeframe: Retrospective assessment of available historical records collected from birth through informed consent, loss to follow-up, or death, whichever occurred first (up to approximately 33 years).