New registry aims to unlock secrets of rare genetic diseases
NCT ID NCT06302439
First seen Dec 30, 2025 · Last updated May 23, 2026 · Updated 16 times
Summary
This study is a registry that collects information from people with two rare genetic conditions: ENPP1 deficiency and infantile-onset ABCC6 deficiency. Researchers will gather data from routine doctor visits and patient questionnaires to understand how these diseases progress and affect quality of life. Up to 1000 participants of any age can join, and no experimental treatments are given.
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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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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
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Contact Phone: •••-•••-•••• Email: •••••@•••••
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Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
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CHU Sainte-Justine Research Centre
RECRUITINGMontreal, Quebec, H3T1C5, Canada
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CLINILABS Drug Development Corp
RECRUITINGEatontown, New Jersey, 07724, United States
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EU Hub - VCTC
RECRUITINGBarcelona, 08029, Spain
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Hospital Sant Joan de Deu
RECRUITINGBarcelona, 08950, Spain
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IRCCS San Raffaele Hospital - Main
RECRUITINGMilan, 20132, Italy
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Contact Phone: •••-•••-•••• Email: •••••@•••••
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Mayo Clinic
RECRUITINGRochester, Minnesota, 55905, United States
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Royal Hospital Muscat
RECRUITINGMuscat, Oman
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The Children's Hospital of Philadelphia (CHOP)
RECRUITINGPhiladelphia, Pennsylvania, 19104, United States
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Contact Phone: •••-•••-•••• Email: •••••@•••••
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The University of Tokyo Hospital
RECRUITINGTokyo, 113-8655, Japan
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Umraniye Training and Research Hospital
RECRUITINGIstanbul, 34764, Turkey (Türkiye)
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Contact Phone: •••-•••-•••• Email: •••••@•••••
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Universitätsklinikum Hamburg-Eppendorf
RECRUITINGHamburg, 20251, Germany
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Contact Phone: •••-•••-•••• Email: •••••@•••••
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VCTC
RECRUITINGDerby, DE11 7AQ, United Kingdom
Contact Email: •••••@•••••
Contact
Conditions
Explore the condition pages connected to this study.