Screening newborns for biotinidase deficiency and tracking their health
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
Run by IRCCS Azienda Ospedaliero-Universitaria di Bologna · NCT06723925 · Data updated 2026-11-12
This study looks at newborns in Italy with biotinidase deficiency to see how common it is and how their health is affected over time, while also checking their parents for related genetic changes.
Quick facts
| Study type | Observational |
|---|---|
| Ages | Any age to 36 Months |
| Sex | All |
| Enrollment | 180 (estimated) |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna Academic / other |
| Locations | 1 site (Bologna, Bologna) |
| Status | Recruiting |
| Started | April 21, 2021 |
| Main results expected | October 31, 2026 |
| Study ends | December 31, 2026 |
| Registry record updated | March 12, 2026 |
| Trial ID | NCT06723925 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include newborns diagnosed with biotinidase deficiency through neonatal screening in the specified time frame.
✕Probably not a fit
Patients with known chromosomal abnormalities or complex syndromes may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study focuses on children born in the Emilia-Romagna region of Italy who were diagnosed with biotinidase deficiency through neonatal screening between 2016 and 2020. It aims to assess the incidence of this deficiency and explore the correlation between genetic factors and clinical outcomes in affected patients. The study involves the retrospective collection of clinical, biochemical, and genetic data, with annual clinical evaluations planned for at least 36 months to monitor potential long-term complications. Parents of the pediatric patients will also undergo genetic analysis for familial mutations of the BTD gene.
Why it matters
Potential benefit: If successful, this study could enhance understanding of biotinidase deficiency and improve clinical management for affected children.
How similar studies have gone: While there may be other studies on biotinidase deficiency, this specific approach focusing on genotype-phenotype correlation in a defined cohort is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion 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; * 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. EXCLUSION CRITERIA: * Subjects with known chromosomal abnormalities or complex syndromes.
Where it's running
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IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Bologna, Italy Recruiting
Study contacts
- Principal investigator: Rita Ortolano, MD — IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Study coordinator: Rita Ortolano, MD
- Email: rita.ortolano@aosp.bo.it
- Phone: 00390512144816
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.