NCT06723925 Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up
| NCT ID | NCT06723925 |
| Status | Recruiting |
| Phase | — |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna |
| Condition | Biotinidase Deficiency |
| Study Type | OBSERVATIONAL |
| Enrollment | 180 participants |
| Start Date | 2021-04-21 |
| Primary Completion | 2026-10-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 180 participants in total. It began in 2021-04-21 with a primary completion date of 2026-10-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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.
Eligibility 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.
Contact & Investigator
Rita Ortolano, MD
PRINCIPAL INVESTIGATOR
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Frequently Asked Questions
Who can join the NCT06723925 clinical trial?
This trial is open to participants of all sexes, up to 36 Months, studying Biotinidase Deficiency. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06723925 currently recruiting?
Yes, NCT06723925 is actively recruiting participants. Contact the research team at rita.ortolano@aosp.bo.it for enrollment information.
Where is the NCT06723925 trial being conducted?
This trial is being conducted at Bologna, Italy.
Who is sponsoring the NCT06723925 clinical trial?
NCT06723925 is sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna. The principal investigator is Rita Ortolano, MD at IRCCS Azienda Ospedaliero-Universitaria di Bologna. The trial plans to enroll 180 participants.