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

Plain-language summary

This study examines the genotype-phenotype relationship and clinical course in children found to have biotinidase deficiency through newborn screening. Pediatric patients with low biotinidase enzyme activity detected during defined time periods, and their parents, may take part. It is a non-phase study that is currently recruiting.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Start date

4/21/2021

Estimated completion

12/31/2026

Countries

Italy

Related genes

Locations

• Bologna, Italy

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.