Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up
Recruiting
Observational Study
Biotinidase Deficiency
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- Up to 36 Months
- Sex
- Any
- Study type
- Observational
- Participants needed
- 180 (estimated)
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna · Other
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About This Trial
Retro-prospective, single-centre, observational study conducted at the Endocrine-Metabolic Diseases Center of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.
The study involves children born in Emilia-Romagna region, Italy, from January 2016 to December 2020 with biotinidase deficiency identified through Neontal Screening at the Endocrine-Metabolic Diseases Center …
Trial Locations
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Eligibility Criteria
INCLUSION CRITERIA:
FOR PEDIATRIC PATIENTS
* Neonatal Screening test result of Residual biotinidase Enzyme Activity \<50% carried out from January 2016 to December 2019 at the Endocrine-Metabolic Diseases Center of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy;
* N…
Contacts