Biomarkers for Babies and Young Children With Ataxia Telangiectasia

NCT07709728 | Not Yet Recruiting DMC

• 1 other identifier: 25051
• Study Type: observational
• Target: 56
• Locations: 0 countries
• Sites: N/A

Brief Summary

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.

Conditions

Ataxia Telangiectasia

Outcome Measures

Primary Outcomes (6)

• 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 Outcomes (2)

• Lung MRI

  Up to 4 years ( last visit)

• Natural sleep MRI procedure

  Up to 4 years ( last visit)

Study Arms (2)

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

Eligibility Criteria

• Age: 0 Years - 5 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• 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.

You may qualify if:

• Genetic diagnosis of Ataxia Telangiectasia
• Aged under two years old at the time of first recruitment
• Parents/ guardians able to give informed consent

You may not qualify if:

• 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
• 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
• Diagnosis of any neurological or neurodevelopmental disease
• Diagnosis of any other significant chronic childhood illness
• On any long-term prescribed treatments

Sponsors & Collaborators

• University of Nottingham: lead

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample

MeSH Terms

Conditions

Ataxia Telangiectasia

Condition Hierarchy (Ancestors)

Spinocerebellar Ataxias; Cerebellar Ataxia; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurocutaneous Syndromes; Ataxia; Dyskinesias; Neurologic Manifestations; Telangiectasis; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Primary Immunodeficiency Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Immunologic Deficiency Syndromes; Immune System Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 4 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 26, 2026
• First Posted: July 16, 2026
• Study Start (Estimated): September 1, 2026
• Primary Completion (Estimated): August 31, 2029
• Study Completion (Estimated): August 31, 2029
• Last Updated: July 16, 2026

Record last verified: 2026-03