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

NCT ID: NCT06723925

Last Updated: 2024-12-09

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

180 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-04-21

Study Completion Date

2025-12-31

Brief Summary

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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

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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.

Conditions

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Biotinidase Deficiency

Keywords

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Biotinidase Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Eligibility Criteria

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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.
Maximum Eligible Age

36 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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IRCCS Azienda Ospedaliero-Universitaria di Bologna

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Rita Ortolano, MD

Role: PRINCIPAL_INVESTIGATOR

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Locations

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IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, Italy

Site Status RECRUITING

Countries

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Italy

Central Contacts

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Rita Ortolano, MD

Role: CONTACT

Phone: 00390512144816

Email: [email protected]

Facility Contacts

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Rita Ortolano, MD

Role: primary

Other Identifiers

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BiotiPed

Identifier Type: -

Identifier Source: org_study_id