Biomarkers for Babies and Young Children With Ataxia Telangiectasia (The BOBCAT Study)
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 56
- 主要终点
- Brain MRI - Volumetric structural T1-weighted (T1)
研究概览
简要总结
The goal of this observational study is to identify progressive changes of quantitative brain and lung imaging, serum and movement-related biomarkers reflecting disease progression in pre-symptomatic infants and very young children (0-5 yo) with a genetic diagnosis of A-T, that could be used in future early-life intervention trials.
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
- 0 Years 至 5 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Participants with A-T
- •Inclusion criteria
- •Genetic diagnosis of Ataxia Telangiectasia
- •Aged under two years old at the time of first recruitment
- •Parents/ guardians able to give informed consent
排除标准
- •Contraindication to MRI
- •Diagnosis of any other neurogenetic disease
- •On approved treatment targeting neurodegeneration in A-T at the time of first recruitment
- •Participating in the trial of novel therapy targeting neurodegeneration in A-T at the time of first recruitment
- •NB - co-recruitment to other observational studies or trials is permitted. If a family chooses to enrol their child in an interventional study targeting neurodegeneration, provided that the intervention trial allows co-recruitment, we would like to retain the participant in the BOBCAT study until its conclusion. In this circumstance, the child's data would not be considered as part of the natural history dataset but would instead be used to demonstrate the feasibility of collecting longitudinal quantitative imaging and other biomarker data in people with A-T during infancy and early childhood.
- •Participants without A-T
- •Inclusion criteria
- •Child undergoing general anaesthesia at Nottingham University Hospitals NHS Trust for minor surgical procedures or diagnostic MRI.
- •Aged 0-5 years (to match the age range of participants with A-T throughout the longitudinal study).
- •Parents/ guardians able to give informed consent
- •Exclusion criteria
- •Diagnosis of any neurological or neurodevelopmental disease
- •Diagnosis of any other significant chronic childhood illness
- •On any long-term prescribed treatments
结局指标
主要结局
Brain MRI - Volumetric structural T1-weighted (T1)
时间窗: Up to 4 years ( last visit)
Volume (mm³) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)
Brain MRI - Magnetic Resonance Spectroscopy (MRS): quantification of N-acetyl aspartate in the cerebellum
时间窗: Up to 4 years ( last visit)
Chemical shift (ppm) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)
Brain MRI - Diffusion Weighted Imaging (DWI)
时间窗: Up to 4 years ( last visit)
Apparent Diffusion Coefficient (mm²/s) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)
Neurological and developmental assessment
时间窗: Up to 4 years ( last visit)
* A-TNEST test * Denver Developmental Screening Test II (DDST)
Quantitative movement analysis
时间窗: Up to 4 years ( last visit)
Quantitative analysis of limb, facial and eye movements will be made using a machine learning approach.
Serum markers of neurodegeneration
时间窗: Up to 4 years ( last visit)
* Neurofilament light chain (NFL) * Glial fibrillary acidic protein (GFAP)
次要结局
- Lung MRI(Up to 4 years ( last visit))
- Natural sleep MRI procedure(Up to 4 years ( last visit))