Status: Open to recruitment.
Background
Ataxia-telangiectasia (AT) is a complex and rare incurable disorder caused by genetic changes (‘mutations’) in the AT-mutated (ATM) gene. AT affects those who have it in many different ways and it is quite variable between individuals. The three main ways it affects individuals are:
- impairing the function of parts of the brain leading to increasing problems of coordination and movement
- weakening the immune system, reducing the ability to fight off infections
- significantly raising the risk of cancers, particularly lymphoma and leukaemia
People with ‘classic AT’ are prone to developing most of the classic symptoms, whereas individuals with the ‘variant’ form of AT have milder, more variable presentations.
In order to develop new treatments for Ataxia-Telangiectasia, we need to find better ways of tracking changes in symptoms caused by the disease (such as by a blood test or brain scan). We also need to find better ways of measuring patients’ responses to treatment, which can then be used in clinical trials. 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, helping progress research towards a therapy for Ataxia Telangiectasia.
Objectives
The aims for this study are to:
- Assess changes over a 2 year period in a cohort of patients with AT
- Identify the use of PET-MRI imaging in assessing changes
- Create a patient reported outcome measure (PROM) that be used for this cohort
Research aims
The aim of this study is to understand how the disease changes over time in order to identify a clinical outcome measure that could be used for future trials.
Who can take part?
- Individuals aged over 16 years old
- Individuals who have a documented results of a genetic mutation that is associated with AT
- Individuals who have clinical signs of Ataxia Telangiectasia
What is involved?
Participants will be required to take part in the study over a two-year period.
We will ask participants to:
- Attend up to 3 visits at Addenbrookes Hospital, Cambridge, over a two year period
- Visit 1: Screening/Baseline Visit (Month 0)
- Visit 2: Follow-Up visit (Month 12)
- Visit 3: End of study visit (Month 24)
- Complete all study assessments, including medical history, neurological and physical examinations, blood samples, clinical and cognitive assessments, exercise and visual assessment
- Decide if you would like to take part in any of the studies optional assessments, including PET-MRI scans.