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Clinical Trials in Italy / NCT06723925
Recruiting Observational

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

NCT06723925 · tracked via the Priya Life Science Italy tracker
Sponsor
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Phase
Observational
Started
2021-04-21
Last updated
2026-03-12

Condition(s) studied

Biotinidase Deficiency

Study 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

Sex
ALL
Min age
—
Max age
36 Months
Healthy volunteers
No
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.

Primary outcome measure(s)

  • 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

Trial sites (1)

FacilityCityRegionStatus
IRCCS Azienda Ospedaliero-Universitaria di Bologna Bologna Bologna Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06723925 on ClinicalTrials.gov ↗ ← All trials in Italy