New registry aims to unlock secrets of rare genetic diseases
NCT ID NCT06302439
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.
Disclaimer
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This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Ann and Robert H. Lurie Children's Hospital
RECRUITINGChicago, Illinois, 60611, United States
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
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CHU Sainte-Justine Research Centre
RECRUITINGMontreal, Quebec, H3T1C5, Canada
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
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CLINILABS Drug Development Corp
RECRUITINGEatontown, New Jersey, 07724, United States
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
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EU Hub - VCTC
RECRUITINGBarcelona, 08029, Spain
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
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Hospital Sant Joan de Deu
RECRUITINGBarcelona, 08950, Spain
Contact Phone: •••-•••-••••
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IRCCS San Raffaele Hospital - Main
RECRUITINGMilan, 20132, Italy
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Mayo Clinic
RECRUITINGRochester, Minnesota, 55905, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Royal Hospital Muscat
RECRUITINGMuscat, Oman
Contact
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The Children's Hospital of Philadelphia (CHOP)
RECRUITINGPhiladelphia, Pennsylvania, 19104, United States
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
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The University of Tokyo Hospital
RECRUITINGTokyo, 113-8655, Japan
Contact
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Umraniye Training and Research Hospital
RECRUITINGIstanbul, 34764, Turkey (Türkiye)
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Universitätsklinikum Hamburg-Eppendorf
RECRUITINGHamburg, 20251, Germany
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
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VCTC
RECRUITINGDerby, DE11 7AQ, United Kingdom
Contact Email: •••••@•••••
Contact