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RecruitingNCT06723925

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

Sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Enrollment

180 participants

Start Date

Apr 21, 2021

Study Type

OBSERVATIONAL

Conditions

Biotinidase Deficiency

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

Max Age: 36 Months

Inclusion Criteria8

  • 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 Criteria1

  • Subjects with known chromosomal abnormalities or complex syndromes.

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Locations(1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, Italy

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NCT06723925