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Can medical records unlock the secrets of rare calcification diseases?

NCT ID NCT07745179

Knowledge-focused Sponsor: Inozyme Pharma Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Aug 04, 2026 · Last updated Aug 05, 2026 · Updated 1 time

Summary

This study looks back at medical records of people with two rare genetic conditions—ENPP1 deficiency and the early-onset form of ABCC6 deficiency—to map how these diseases progress over time. By collecting information on symptoms, imaging, and growth, researchers hope to better understand the natural course of these illnesses. The findings may help design and support future therapies for these conditions.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
This study could help researchers better understand these rare genetic diseases, potentially guiding the development of future treatments.
What could go wrong
As a retrospective review, it relies on existing records that may be incomplete or inconsistent, and it does not test any new treatment directly.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

23 people

The number who actually took part.

Started

Dec 2018

Finished

Feb 2025

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Infant, pediatric, and adult participants with ENPP1 Deficiency or early-onset ABCC6 Deficiency, including participants with generalized arterial calcification of infancy (GACI), whose diagnoses were confirmed by genetic testing and/or clinical phenotype and who had medical records available for retrospective review.

Ages

1 day and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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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Conditions

The condition(s) this trial relates to.

arterial calcification of infancy arterial calcification, generalized, of infancy, 2 autosomal recessive hypophosphatemic rickets autosomal recessive inherited pseudoxanthoma elasticum hypophosphatemic rickets, autosomal recessive, 1

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Atp-binding cassette subfamily C member 6 deficiency Autosomal recessive hypophosphatemic rickets Ectonucleotide pyrophosphatase/PHOSPHODIESTERASE1 deficiency Generalized arterial calcification of infancy Pxe (pseudoxanthoma elasticum)

Contacts and locations

Locations

  • Birmingham Children's Hospital

    Birmingham, United Kingdom

  • Centre de References des Maladies Neuromusculaires (CRMN)

    La Tronche, France

  • Children's Hospital of Philadelpha

    Philadelphia, Pennsylvania, 19104, United States

  • Evelina London Children's Hospital

    London, 19104, United Kingdom

  • Hopital Necker-Enfants Malades

    Paris, France

  • Hospices Civils de Lyon

    Lyon, France

  • Royal Manchester University Hospital

    Manchester, United Kingdom

  • University Hospital Munster

    Münster, Germany

More trials for these conditions

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