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

NCT ID NCT05050669

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

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.

Get updates

Get notified about this study

Sign up to get updates when this study changes or when new studies for ADENOSINE TRIPHOSPHATE BINDING CASSETTE TRANSPORTER PROTEIN SUBFAMILY C MEMBER 6 are added.

Our safety recommendation!

By submitting, you agree to our Terms of use

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

Show contact details

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

More trials for these conditions

Other studies related to the condition(s) this trial covers.