Newborn screening study aims to decode rare enzyme disorder
NCT ID NCT06723925
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study follows 180 children in Italy born with biotinidase deficiency, a rare condition that can cause skin, eye, and nerve problems if untreated. Researchers will compare each child's genetic makeup with their enzyme activity levels and health outcomes. The goal is to better understand how genes influence the severity of the condition and guide future care.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this study could improve how doctors predict and manage biotinidase deficiency based on genetic and enzyme activity results.
What could go wrong
This is an observational study, not a treatment trial. It will not test new therapies, and results may not apply to other populations.
Disclaimer
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the original study
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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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
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: •••••@•••••