Biomarkers for Babies and Young Children With Ataxia Telangiectasia
ConditionAtaxia Telangiectasia
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age0-5
SponsorUniversity of Nottingham
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Participants with A-T
* Genetic diagnosis of Ataxia Telangiectasia
Aged under two years old at the time of first recruitment
Parents/ guardians able to give informed consent
Disqualifiers
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
Trial 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.
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
56 Participants
are grouped into 2 trial groupsGroup A: A-T participants
Group B: non A-T participants / Controls
Trial outcomes
Primary outcomes
1
Brain MRI - Volumetric structural T1-weighted (T1)
Volume (mm³) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)
Time frame
Up to 4 years ( last visit)2
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)
Time frame
Up to 4 years ( last visit)3
Brain MRI - Diffusion Weighted Imaging (DWI)
Apparent Diffusion Coefficient (mm²/s) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)
Time frame
Up to 4 years ( last visit)4
Neurological and developmental assessment
* A-TNEST test * Denver Developmental Screening Test II (DDST)
Time frame
Up to 4 years ( last visit)Secondary outcomes
1
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
Time frame
Up to 4 years ( last visit)2
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
Time frame
Up to 4 years ( last visit)Locations
Sponsors and contacts
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Source ClinicalTrials.gov
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