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
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 180
- 试验地点
- 1
- 主要终点
- Biotin replacement therapy
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- — 至 36 Months（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •Subjects with known chromosomal abnormalities or complex syndromes.
结局指标
主要结局
Biotin replacement therapy
时间窗: baseline
mg/die
BTD gene mutation
时间窗: baseline
allele1, allele2 mutations
Residual biotinidase Enzymatic Activity
时间窗: baseline
percentage %
Presence of Sintomatology
时间窗: annually after the diagnosis of Biotinidase Deficiency up to 3 yaers
ocular, dermatological, neuropsychiatric symptoms
次要结局
未报告次要终点
研究者
Rita Ortolano
MD
IRCCS Azienda Ospedaliero-Universitaria di Bologna