New study tracks rare enzyme disorder in newborns to unlock genetic clues
NCT ID NCT06723925
First seen Mar 24, 2026 · Last updated May 14, 2026 · Updated 6 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 there is a link between the specific gene changes and the symptoms or lab results. The goal is to better understand the condition, not to test a new treatment. About 180 children will be followed over time.
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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.
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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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IRCCS Azienda Ospedaliero-Universitaria di Bologna
RECRUITINGBologna, Bologna, 40138, Italy
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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