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.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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.
By submitting, you agree to our Terms of use
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
Locations
-
IRCCS Azienda Ospedaliero-Universitaria di Bologna
RECRUITINGBologna, Bologna, 40138, Italy
More trials for these conditions
Other studies related to the condition(s) this trial covers.