Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up

Recruiting now

Conditions studied: Biotinidase Deficiency

In brief

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.

Key facts

Study ID

NCT06723925

Run by

IRCCS Azienda Ospedaliero-Universitaria di Bologna

People needed

180

Starts

2021-04-21

Expected to finish

2026-12-31

Last updated by the study team

2026-03-12

Who can join

Age: any, up to 3. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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;
• Neonatal Screening test result of Residual biotinidase Enzyme Activity <30% carried out from January 2020 to December 2020 at the Endocrine-Metabolic Diseases Center of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy;
• Obtaining informed consent from parents or legal guardian of pediatric patients.
• FOR PARENTS
• Being a parent of a paediatric patient enrolled in the study;
• Availability of parental data;
• Obtaining informed consent.

You may not qualify if…

• Subjects with known chromosomal abnormalities or complex syndromes.

Where it is running

• IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna, Bologna, Italy (enrolling)

Full record on ClinicalTrials.gov

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