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

NCT06723925 | Recruiting

• 1 other identifier: BiotiPed
• Study Type: observational
• Target: 180
• Locations: 1 country
• Sites: 1

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.

Conditions

Biotinidase Deficiency

Keywords

Biotinidase Deficiency

Outcome Measures

Primary Outcomes (4)

• BTD gene mutation

  allele1, allele2 mutations

  baseline

• Residual biotinidase Enzymatic Activity

  percentage %

  baseline

• Biotin replacement therapy

  mg/die

  baseline

• Presence of Sintomatology

  ocular, dermatological, neuropsychiatric symptoms

  annually after the diagnosis of Biotinidase Deficiency up to 3 yaers

Eligibility Criteria

• Age: Up to 36 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Pediatric patients with Biotinidase Deficiency (and their parents) identified through Neonatal Screening from January 2016 to December 2020 at the Endocrine-Metabolic Diseases Center of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.

You may qualify if:

• 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.

You may not qualify if:

• Subjects with known chromosomal abnormalities or complex syndromes.

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, 40138, Italy

RECRUITING

MeSH Terms

Conditions

Biotinidase Deficiency

Condition Hierarchy (Ancestors)

Multiple Carboxylase Deficiency; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Rita Ortolano, MD

  IRCCS Azienda Ospedaliero-Universitaria di Bologna

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Rita Ortolano, MD

CONTACT

00390512144816; rita.ortolano@aosp.bo.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: December 3, 2024
• First Posted: December 9, 2024
• Study Start: April 21, 2021
• Primary Completion (Estimated): October 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: March 12, 2026

Record last verified: 2025-11

Locations

IT (1)