Researchers track rare disorder in kids to unlock genetic clues
NCT ID NCT06723925
Summary
This study aims to better understand biotinidase deficiency, a rare inherited disorder, in children identified through newborn screening in Italy. Researchers will follow about 180 children for at least three years to see how their specific genetic changes relate to their symptoms and response to treatment. The goal is to gather knowledge to improve future care, not to test a new therapy.
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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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