Our research intern, Scarlett Parr-Reid, sits down with Dr Ng to discuss his research into mitochondrial disease and spinocerebellar ataxia type-6 (SCA6).
Tell me a bit about yourself and your journey into the field of ataxia research.
I’m a Consultant Neurologist with research interests in natural history, outcome measures and clinical trial endpoints in hereditary ataxia and primary mitochondrial disease (PMD). My research journey started at the Wellcome Centre for Mitochondrial Research, Newcastle University.
When I reviewed adult patients with PMD in the clinic, I noticed that many patients are significantly affected by ataxia, in addition to other multi-system involvement. What we have often observed is that individuals with PMD lose the ability to walk safely because of ataxia rather than muscle weakness. This led to my first clinical project focusing on the assessment of ataxia several years ago.
Could you talk about the research you and your team at Newcastle University have conducted so far into mitochondrial disease and SCA6?
Through my research, I first tried to characterise ataxia in those individuals with primary mitochondrial disease (PMD) compared to healthy participants. This was to ensure that existing clinical rating scales and gait laboratory measures can reliably distinguish between those with ataxia and healthy controls.
The next question that led to is whether those with PMD and ataxia have a unique characteristic profile in terms of their walking pattern and balance control compared to other forms of hereditary ataxia. This is important as if there are any similarities, then any interventions we look at might be applicable for both disease groups.
We chose SCA6 patients as a disease control group, as these individuals have what is called pure cerebellar syndrome, meaning that their symptoms are primarily driven by caused cerebellar degeneration. This means we could compare their balance and gait profiles to those with PMD to see what is caused by cerebellar degeneration and what is separate in mitochondrial disease. Ataxia UK and Academy of Medical Sciences (AMS) co-funded this project, ‘Balance and Gait abnormalities in adult patients with mitochondrial disease and spinocerebellar ataxia type 6’.
What are the next steps for your research?
My research team and I have recently received funding from Ataxia UK for our project ‘A feasibility study of Remote Patient-Reported Outcome measures in Mitochondrial Disease and Spinocerebellar ataxias (R-PROMS)’. It is a collaboration between Newcastle University and Monash University in Australia. This project will study the feasibility of conducting online assessments of how ataxic symptoms change over time, as well as questionnaires on quality of life. There will only be one face-to-face visit at the beginning of the study to conduct a physical examination of participants.
The hope is that this project will provide a research opportunity for people who do not normally take part in studies due to severe physical disability, as well as those with very rare genetic causes. We aim to use the findings from this project to show whether online assessments are suitable and reliable to show how ataxic symptoms change over one year, which will help inform the design of clinical trials.
As this is a feasibility study, how do you plan to capture the feasibility of remote assessments of ataxia symptoms?
Because this project is a feasibility study, we will need to carry out post-study survey and virtual focus group involving participants who complete the study. However, it is important to also explore why some patients decline to take part in the study. We need to ensure that individuals have not been excluded based on their access to computer or laptop.
How can people get involved in your research?
Our new study, R-PROMS, is currently recruiting patients (>16 years old and there is no upper age limit) with all forms of hereditary ataxia, all ranges of severity and disease burden. If you are interested in taking part, you can read more here.
