Actively Recruiting
Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up
Led by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Updated on 2026-03-12
180
Participants Needed
1
Research Sites
297 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Pediatric patients with neonatal screening showing residual biotinidase enzyme activity less than 50% from January 2016 to December 2019 at the Endocrine-Metabolic Diseases Center of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy
- Pediatric patients with neonatal screening showing residual biotinidase enzyme activity less than 30% from January 2020 to December 2020 at the same center
- Informed consent obtained from parents or legal guardians of pediatric patients
- Parents of enrolled pediatric patients
- Availability of parental data
- Informed consent obtained from parents
You will not qualify if you...
- Known chromosomal abnormalities or complex syndromes
AI-Screening
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Trial Site Locations
Total: 1 location
1
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy, 40138
Actively Recruiting
Research Team
R
Rita Ortolano, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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