TREAT-AT
Research type
Research Study
Full title
Trial REadiness in Ataxia Telangiectasia
IRAS ID
322596
Contact name
Rita Horvath
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
Ataxia-telangiectasia (AT) is a rare incurable disorder caused by variants in the AT-mutated (ATM) gene. Early loss of mobility due to neurodegeneration, a weakened immune system and increased risk of cancer, cause early mortality in patients with classic AT, whereas individuals with the variant form of AT have milder, more variable presentations. The lack of validated outcome measures and biomarkers has been a significant barrier to the development of new treatments.
The aim of this study therefore, is to assess the neurological progression of Ataxia-Telangiectasia and to select the best outcome measure for a future clinical trial in this patient population.
Antisense oligonucleotide (ASO) therapies present a promising disease-modifying treatment. A deep intronic ATM splice-variant c.5763-1050A>G (among others) is an excellent ASO target, but the lack of validated outcome measures and biomarkers hampers clinical trial evaluation.
To evaluate therapeutic interventions, we will prospectively study AT patients aged 18 and above in a trial-ready AT subpopulation (carrying c.5763-1050A>G or other rare variants), amenable to splice modifying ASO therapy, for two years. This will involve 3 visits to the research site over two years (at baseline, 12 months and 24 months) and will include: sample collection for biomarkers, a range of clinical scales, physical & neurological examination, questionnaires, cognitive tests, eye tests and PET-MRI brain imaging.
REC name
London - Surrey Research Ethics Committee
REC reference
23/LO/0369
Date of REC Opinion
20 Jun 2023
REC opinion
Further Information Favourable Opinion