An observational study in Biotinidase Deficiency, sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna. Recruiting at 1 site in Italy. Open to participants aged Up to 36 Months. Per ClinicalTrials.gov, last updated 2026-03-12.
Sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Observational
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.
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.
IRCCS Azienda Ospedaliero-Universitaria di Bologna is the lead sponsor of 513 studies on the registry; 288 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
FOR PEDIATRIC PATIENTS
FOR PARENTS
EXCLUSION CRITERIA:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
BTD gene mutation
allele1, allele2 mutations
Time frame: baseline
Residual biotinidase Enzymatic Activity
percentage %
Time frame: baseline
Biotin replacement therapy
mg/die
Time frame: baseline
Presence of Sintomatology
ocular, dermatological, neuropsychiatric symptoms
Time frame: annually after the diagnosis of Biotinidase Deficiency up to 3 yaers
Started Apr 2021 (actual). Primary completion is estimated for Oct 2026, 66 months after the start.
How these figures are worked out, and which studies are left out of them.
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Biotinidase Deficiency
IRCCS Azienda Ospedaliero-Universitaria di Bologna →