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Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
Summary
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 of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy. The primary aim of this study is to assess the incidence of biotinidase decificiency in this cohort of patients and the possible correlation between the genotype and the biochemical and clinical phenotype of this cohort of patients.
Official title: Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up of Patients Identified at the Regional Centre for Neonatal Screening of Endocrine-Metabolic Diseases in Bologna
Key Details
Gender
All
Age Range
Any - 36 Months
Study Type
OBSERVATIONAL
Enrollment
180
Start Date
2021-04-21
Completion Date
2026-12-31
Last Updated
2026-03-12
Healthy Volunteers
No
Conditions
Locations (1)
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy