New study tracks rare enzyme disorder in newborns to unlock genetic clues
NCT ID NCT06723925
First seen Mar 24, 2026 · Last updated May 21, 2026 · Updated 7 times
Summary
This study looks at children born in Italy between 2016 and 2020 who were found to have biotinidase deficiency through newborn screening. Researchers want to see if a child's specific gene changes are linked to their symptoms and how much biotin enzyme activity they have. The goal is to better understand the condition and improve future care. No new treatments are being tested.
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 BIOTINIDASE DEFICIENCY are added.
Genom att skicka in godkänner du våra Användarvillkor
Contacts and locations
Show contact details
Enter your email to view the contact information for this study.
Genom att skicka in godkänner du våra Användarvillkor
Study contacts
-
Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
-
IRCCS Azienda Ospedaliero-Universitaria di Bologna
RECRUITINGBologna, Bologna, 40138, Italy
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
Explore the condition pages connected to this study.