New registry aims to unlock secrets of rare genetic diseases

NCT ID NCT06302439

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

First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This observational registry is collecting information from up to 1,000 people with ENPP1 deficiency or infantile-onset ABCC6 deficiency. The goal is to understand how these rare diseases progress over time by tracking genetic, physical, and quality-of-life changes during routine doctor visits. No treatment is given; the study simply observes and records data to build a clearer picture of 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: If successful, this registry could provide crucial data to help design future treatments for these rare diseases.
What could go wrong: This is an observational study, not a treatment trial. It may not directly benefit participants, and results depend on consistent data collection across many sites.

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

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Conditions

The condition(s) this trial relates to.

arterial calcification of infancy arterial calcification, generalized, of infancy, 2

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 ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1 DEFICIENCY

Contacts and locations

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Locations

Ann and Robert H. Lurie Children's Hospital
RECRUITING

Chicago, Illinois, 60611, United States
Boston Children's Hospital
RECRUITING

Boston, Massachusetts, 02115, United States
CHU Sainte-Justine Research Centre
RECRUITING

Montreal, Quebec, H3T1C5, Canada
CLINILABS Drug Development Corp
RECRUITING

Eatontown, New Jersey, 07724, United States
EU Hub - VCTC
RECRUITING

Barcelona, 08029, Spain

Contact Email: •••••@•••••
Hospital Sant Joan de Deu
RECRUITING

Barcelona, 08950, Spain
IRCCS San Raffaele Hospital - Main
RECRUITING

Milan, 20132, Italy
Mayo Clinic
RECRUITING

Rochester, Minnesota, 55905, United States
Royal Hospital Muscat
RECRUITING

Muscat, Oman
The Children's Hospital of Philadelphia (CHOP)
RECRUITING

Philadelphia, Pennsylvania, 19104, United States
The University of Tokyo Hospital
RECRUITING

Tokyo, 113-8655, Japan
Umraniye Training and Research Hospital
RECRUITING

Istanbul, 34764, Turkey (Türkiye)
Universitätsklinikum Hamburg-Eppendorf
RECRUITING

Hamburg, 20251, Germany
VCTC
RECRUITING

Derby, DE11 7AQ, United Kingdom

Contact Email: •••••@•••••

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