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

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT06723925

Enrollment

180

Registered

2024-12-09

Start date

2021-04-21

Completion date

2026-12-31

Last updated

2026-03-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Biotinidase Deficiency

Keywords

Biotinidase Deficiency

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.

Detailed description

The study consists of the retrospective collection and analysis of clinical, biochemical and genetic data of pediatric patients who were taken in charge for Biotinidase Deficiency at the Endocrine-Metabolic Diseases Center of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy, following Neonatal Screening positivity. For this cohort of patients, a clinical evaluation is planned annually after the diagnosis of Biotinidase Deficiency for the identification of possible long-term complications. A clinical follow-up of at least 36 months is expected. According to clinical practice, parents of pediatric patients with Biotinidase Deficiency identified through Neonatal Screening will undergo molecular genetic analysis for specific familial mutations of the BTD gene, but will not be followed up.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Age

No minimum to 36 Months

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
BTD gene mutation	baseline	allele1, allele2 mutations
Residual biotinidase Enzymatic Activity	baseline	percentage %
Biotin replacement therapy	baseline	mg/die
Presence of Sintomatology	annually after the diagnosis of Biotinidase Deficiency up to 3 yaers	ocular, dermatological, neuropsychiatric symptoms

Countries

Italy

Contacts

CONTACTRita Ortolano, MD

rita.ortolano@aosp.bo.it00390512144816

PRINCIPAL_INVESTIGATORRita Ortolano, MD

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Outcome results