New registry aims to map rare genetic diseases that harden arteries in babies
NCT ID NCT06302439
First seen Dec 30, 2025 · Last updated May 16, 2026 · Updated 15 times
Summary
This study is a patient registry that will follow up to 1,000 people with ENPP1 deficiency or infantile-onset ABCC6 deficiency. Researchers will collect information from routine doctor visits, including genetic, imaging, and quality-of-life data, to better understand how these rare diseases progress. The goal is to learn about the full burden of illness, not to test a new treatment.
Disclaimer
Read more
Show less
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.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1 DEFICIENCY are added.
By submitting, you agree to our Terms of use
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Study contacts
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
-
Ann and Robert H. Lurie Children's Hospital
RECRUITINGChicago, Illinois, 60611, United States
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
CHU Sainte-Justine Research Centre
RECRUITINGMontreal, Quebec, H3T1C5, Canada
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
-
CLINILABS Drug Development Corp
RECRUITINGEatontown, New Jersey, 07724, United States
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
EU Hub - VCTC
RECRUITINGBarcelona, 08029, Spain
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
-
Hospital Sant Joan de Deu
RECRUITINGBarcelona, 08950, Spain
Contact Phone: •••-•••-••••
Contact
-
IRCCS San Raffaele Hospital - Main
RECRUITINGMilan, 20132, Italy
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
Mayo Clinic
RECRUITINGRochester, Minnesota, 55905, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
Royal Hospital Muscat
RECRUITINGMuscat, Oman
Contact
-
The Children's Hospital of Philadelphia (CHOP)
RECRUITINGPhiladelphia, Pennsylvania, 19104, United States
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
The University of Tokyo Hospital
RECRUITINGTokyo, 113-8655, Japan
Contact
-
Umraniye Training and Research Hospital
RECRUITINGIstanbul, 34764, Turkey (Türkiye)
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
Universitätsklinikum Hamburg-Eppendorf
RECRUITINGHamburg, 20251, Germany
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••
-
VCTC
RECRUITINGDerby, DE11 7AQ, United Kingdom
Contact Email: •••••@•••••
Contact
Conditions
Explore the condition pages connected to this study.