Ataxia TelangiectasiaBOBCATNCT07709728
Biomarkers for Babies and Young Children With Ataxia Telangiectasia
An observational study of Ataxia Telangiectasia, run by University of Nottingham.
Trial 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… Read more about this study
- Who is it for?
- Ages 0 to 5 yearsHealthy volunteers can take part
- Conditions the study is for
- Ataxia Telangiectasia
- How many people
- 56 participants
- Where
- No sites listed yet
- Study dates
- 1 Sep 2026to 31 Aug 2029
- How long will I take part?
- 4 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 5 years
- All sexes
- Healthy volunteers accepted
- Child
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.
Who may be able to join
- Genetic diagnosis of Ataxia Telangiectasia
- Aged under two years old at the time of first recruitment
- Parents/ guardians able to give informed consent
- 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
Who cannot join
- 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
Show all 9Show fewer
- Diagnosis of any neurological or neurodevelopmental disease
- Diagnosis of any other significant chronic childhood illness
- On any long-term prescribed treatments
About this study
Official title: 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.
- Conditions
- Ataxia Telangiectasia
- Medical subject headings
- Ataxia Telangiectasia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
Brain MRI - Volumetric structural T1-weighted (T1)
Volume (mm³) - Acquisition parameters aligned to HEALthy Brain and Child Development Study (HBCD)
Measured: 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)
Measured: 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)
Measured: Up to 4 years ( last visit)
Neurological and developmental assessment
- A-TNEST test
- Denver Developmental Screening Test II (DDST)
Measured: 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.
Measured: Up to 4 years ( last visit)
Serum markers of neurodegeneration
- Neurofilament light chain (NFL)
- Glial fibrillary acidic protein (GFAP)
Measured: Up to 4 years ( last visit)
Secondary outcomes (2)
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
Measured: 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
Measured: Up to 4 years ( last visit)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jul 2026
- Study start1 Sep 2026 (estimated)
- Primary completion31 Aug 2029 (estimated)
- Study completion31 Aug 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ataxia TelangiectasiaStudies of the same condition, open and under way.
- More trials run by University of NottinghamThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 56 participants (estimated)
- Target duration
- 4 Years
Sponsor and investigators
- Lead sponsor
- University of Nottingham
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07709728
- Sponsor's protocol ID
- 25051
- Acronym
- BOBCAT
- Status last verified
- Mar 2026
- First submitted
- 26 Jun 2026
- Last updated
- 16 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarkers for Babies and Young Children With Ataxia Telangiectasia (The BOBCAT Study)
- ClinicalTrials.gov ID
- NCT07709728
- Acronym / sponsor ID
- BOBCAT / 25051
- Conditions
- Ataxia Telangiectasia
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 56 participants (estimated)
- Lead sponsor
- University of NottinghamUniversity, hospital or other
- Study start
- 1 Sep 2026 (estimated)
- Primary completion
- 31 Aug 2029 (estimated)
- Study completion
- 31 Aug 2029 (estimated)
- First posted
- 16 Jul 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 4 Years
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 0 to 5 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- 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.
Key inclusion criteria (6 listed)
Key exclusion criteria (9 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Brain MRI - Volumetric structural T1-weighted (T1)
Time frame: 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
Time frame: 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)
Time frame: 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
Time frame: Up to 4 years ( last visit)
* A-TNEST test * Denver Developmental Screening Test II (DDST)
Quantitative movement analysis
Time frame: 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
Time frame: Up to 4 years ( last visit)
* Neurofilament light chain (NFL) * Glial fibrillary acidic protein (GFAP)
2 secondary outcomes
Lung MRI
Time frame: Up to 4 years ( last visit)
Natural sleep MRI procedure
Time frame: Up to 4 years ( last visit)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jul 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Ataxia Telangiectasia, run by University of Nottingham.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 16 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Brain MRI - Volumetric structural T1-weighted (T1) (time frame: Up to 4 years ( last visit)). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jul 2026.