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Rare disease detectives: new study maps how two genetic conditions unfold in children

NCT ID NCT05050669

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

What the study statuses mean

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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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Jul 06, 2026 · Last updated Jul 07, 2026 · Updated 1 time

Summary

This study follows children aged 2 to 18 with confirmed ENPP1 deficiency or early-onset ABCC6 deficiency to understand how these rare diseases progress. Researchers will measure blood markers, check for calcification in arteries and organs, and track bone health and movement over time. No treatment is given—the goal is to gather natural history data to inform future care and research.

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
If successful, this study could help doctors better understand how these rare diseases develop and change over time, potentially guiding future treatments.
What could go wrong
This is an observational study with no treatment being tested. It will not directly improve participants' health, and results may not apply to all patients.

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

12 people

The number who actually took part.

Started

Jun 2022

Finished

Jun 2024

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

This study will enroll all eligible subjects aged 2 to \<18 years with ENPP1 Deficiency and the early-onset form of ABCC6 Deficiency who consent to participate, with the goal of recruiting up to 20 subjects.

Ages

2 to 18 years

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: Individuals eligible to participate must meet all of the following inclusion criteria: 1. Must provide written consent of the legally authorized representative/caregiver and assent for subjects after the nature of the study has been explained and prior to any research-related procedures, following the policies of the clinical site 2. Genetic confirmation of ENPP1 Deficiency or ABCC6 Deficiency 3. Male or female, aged 2 to \<18 years 4. In the opinion of the Investigator, must be willing and able to complete all aspects of the study 5. Agree to provide access to relevant medical records Exclusion Criteria: Individuals who meet the following exclusion criterion will not be eligible to participate: 1\. In the opinion of the Investigator and/or Sponsor, presence of any clinically significant disease (outside of those considered associated with the diagnosis of ENPP1 Deficiency or the early-onset form of ABCC6 Deficiency) that precludes study participation or may confound interpretation of study results, such as an unrelated bone, mineral, or muscle disease or genetic connective tissue disease

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Conditions

The condition(s) this trial relates to.

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

As listed by the trial registrant

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

Adenosine triphosphate binding cassette transporter protein subfamily C member 6 Autosomal recessive hypophosphatemic rickets Ectonucleotide pyrophosphatase/PHOSPHODIESTERASE1 deficiency Generalized arterial calcification of infancy

Contacts and locations

Locations

  • Boston Children's Hospital

    Boston, Massachusetts, 02115, United States

  • CHOP - Roberts Center for Pediatric Research

    Philadelphia, Pennsylvania, 19146, United States

  • CHU Sainte-Justine

    Montreal, Quebec, H3T 1C5, Canada

  • Cook Children's Hospital

    Fort Worth, Texas, 76104, United States

  • Royal Manchester University Hospital

    Manchester, Manchester, M13 9WL, United Kingdom

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