Biomarkers for Babies and Young Children With Ataxia Telangiectasia
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Ataxia Telangiectasia. Basic parameters: 0 years — 5 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Biomarkers for Babies and Young Children With Ataxia Telangiectasia (The BOBCAT Study)
Overview
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.
Primary outcome measures
- Brain MRI - Volumetric structural T1-weighted (T1) [Time frame: Up to 4 years ( last visit)]
- Brain MRI - Magnetic Resonance Spectroscopy (MRS): quantification of N-acetyl aspartate in the cerebellum [Time frame: Up to 4 years ( last visit)]
- Brain MRI - Diffusion Weighted Imaging (DWI) [Time frame: Up to 4 years ( last visit)]
- Neurological and developmental assessment [Time frame: Up to 4 years ( last visit)]
- Quantitative movement analysis [Time frame: Up to 4 years ( last visit)]
- Serum markers of neurodegeneration [Time frame: Up to 4 years ( last visit)]
Secondary outcome measures (2)
- Lung MRI [Time frame: Up to 4 years ( last visit)]
- Natural sleep MRI procedure [Time frame: Up to 4 years ( last visit)]
Eligibility criteria
- 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
- Exclusion criteria
- 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT07709728 · 25051