Screening newborns for biotinidase deficiency and tracking their health
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
IRCCS Azienda Ospedaliero-Universitaria di Bologna · NCT06723925
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 |
|---|---|
| Enrollment | 180 (estimated) |
| Ages | N/A to 36 Months |
| Sex | All |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna (other) |
| Locations | 1 site (Bologna, Bologna) |
| Trial ID | NCT06723925 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include newborns diagnosed with biotinidase deficiency through neonatal screening in the specified time frame.
Not a fit: Patients with known chromosomal abnormalities or complex syndromes may not benefit from this study.
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 performed: While there may be other studies on biotinidase deficiency, this specific approach focusing on genotype-phenotype correlation in a defined cohort is relatively novel.
Eligibility criteria
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 this trial is running
Bologna, Bologna
- 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 participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Biotinidase Deficiency