Biomarkers for Babies and Young Children With Ataxia Telangiectasia (BOBCAT)

Biomarkers for Babies and Young Children With Ataxia Telangiectasia (The BOBCAT Study)

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Ataxia Telangiectasia

• Study Type: Observational
• Enrollment (Estimated): 56

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Participants with A-T will be recruited principally via the National Paediatric A-T Clinic based at Nottingham University Hospitals NHS Trust. A second route for recruitment is the A-T Society, a UK charity that provides support and advocacy for people with A-T and their families.

Participants without A-T or other conditions described in the exclusion criteria, will be infants and young children undergoing general anaesthesia at Nottingham University Hospitals NHS Trust for minor surgical procedures (e.g. circumcision, orchidopexy) or diagnostic MRI.

Description

1. 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.

2. 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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
A-T participants; Up to 4 longitudinal visits, depending on enrolment window Brain MRI/Assessment/Movement Quantitative Analysis/Blood Test
non A-T participants / Controls; One single visit Blood test only

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Brain MRI - Volumetric structural T1-weighted (T1)	Volume (mm³) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)	Up to 4 years ( last visit)
Brain MRI - Magnetic Resonance Spectroscopy (MRS): quantification of N-acetyl aspartate in the cerebellum	Chemical shift (ppm) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)	Up to 4 years ( last visit)
Brain MRI - Diffusion Weighted Imaging (DWI)	Apparent Diffusion Coefficient (mm²/s) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)	Up to 4 years ( last visit)
Neurological and developmental assessment	A-TNEST test; Denver Developmental Screening Test II (DDST)	Up to 4 years ( last visit)
Quantitative movement analysis	Quantitative analysis of limb, facial and eye movements will be made using a machine learning approach.	Up to 4 years ( last visit)
Serum markers of neurodegeneration	Neurofilament light chain (NFL); Glial fibrillary acidic protein (GFAP)	Up to 4 years ( last visit)

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Lung MRI	• Lung MRI metrics, feasibility, and the results of the quantitative analyses, where it has been possible to do this.; free-breathing proton-based ventilation; structural images using the proton-based techniques	Up to 4 years ( last visit)
Natural sleep MRI procedure	Completion rates (%) and image quality (Signal-to-Noise Ratio, SNR, and Contrast-to-Noise Ratio CNR - unitless ) when using the sleep MRI protocol	Up to 4 years ( last visit)

Collaborators and Investigators

• Sponsor: University of Nottingham

Study record dates

Study Major Dates

• Study Start (Estimated): September 1, 2026
• Primary Completion (Estimated): August 31, 2029
• Study Completion (Estimated): August 31, 2029

Study Registration Dates

• First Submitted: June 26, 2026
• First Submitted That Met QC Criteria: July 13, 2026
• First Posted (Actual): July 16, 2026

Study Record Updates

• Last Update Posted (Actual): July 16, 2026
• Last Update Submitted That Met QC Criteria: July 13, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Primary Immunodeficiency Diseases; Neurologic Manifestations; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, Inborn; Metabolic Diseases; Immune System Diseases; Immunologic Deficiency Syndromes; Neurocutaneous Syndromes; Dyskinesias; DNA Repair-Deficiency Disorders; Cerebellar Diseases; Cerebellar Ataxia; Spinocerebellar Ataxias; Ataxia; Telangiectasis; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Ataxia Telangiectasia
• Other Study ID Numbers: 25051

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No