A few weeks ago, Jon, Amelia, and Luna attended the 26th Annual Packard Center ALS Research Symposium in Baltimore, USA. This inspiring meeting was organised by the Packard Center, a leading research centre specialising in ALS at Johns Hopkins School of Medicine. Jon was invited to present about digital biomarkers for the FTD-ALS spectrum.
What is ALS and how is it related to FTD?
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative condition and the most common form of motor neuron disease (MND). As the name suggests, it involves loss of motor neurons, which are the nerve cells that control our muscles. Motor neurons are essential for movement, but they also play a key role in everyday functions such as speaking, swallowing, and breathing. As these neurons become damaged and degenerate, people with ALS gradually lose the ability to carry out these functions. So, how is ALS related to frontotemporal dementia (FTD)? For many years, ALS and FTD were thought to be completely separate conditions. However, research has shown that they are closely linked and actually form a spectrum, known as the FTD–ALS spectrum. This is because they share important clinical and genetic features. For example, changes in the C9orf72 gene can give rise to FTD, ALS, or a mix of both (FTD-ALS). Across this spectrum, people may experience various combinations of motor and cognitive or behavioural symptoms. As our research expands to include ALS, it is important for us to understand how the disease is studied across the world, learn from new discoveries, and build strong collaborations to help move closer to finding a cure for FTD-ALS.
Genetics of ALS and FTD (taken from Ling et al., 2013)
Jon’s talk on digital biomarkers
Over three days, we had the pleasure of attending a wide array of fascinating talks on the latest advances in ALS research. We heard about new discoveries, disease models, and emerging technologies. Jon also gave a talk on developing digital and remote biomarkers for the FTD-ALS spectrum. Digital biomarkers are measurable signs of disease monitored using technology. This work is a key part of our research within GENFI and is being tested in individuals with FTD and ALS. Our growing set of digital technologies is best described in our recent blog post on the Early Detection of FTD (EDoF) study and you can give it a read here! It includes:
- Non-invasive muscle recording technologies, such as muscle ultrasound and surface EMG
- Accelerometers to analyse gait and movement
- A keyboard tapping task to detect changes in hand and finger movement
- Language analysis tools
- Eye-tracking to understand behavioural changes
- Our cognitive assessment app Ignite, which is completed on iPad
- Wearable devices such as Fitbit and Oura Ring to track sleep, heart rate, and other physiological changes
Jon’s presentation gave an overview of digital technologies and how they can be implemented, shared early findings from our genetic cohort GENFI, and underlined the importance of identifying early measurable signs of FTD and ALS. Digital tools could make it possible to monitor people more frequently and more precisely from home, which will be especially valuable for future clinical trials.
Posters presented by the team
Amelia and Luna also presented posters, which sparked engaging discussions about their research. Amelia’s poster focused on the Ignite app as a digital cognitive outcome measure for early detection across FTD-ALS linked to the C9orf72 gene. Her work explored early cognitive differences in carriers of the C9orf72 repeat expansion as well as individuals affected by FTD or ALS. Luna’s poster examined whether a short online keyboard tapping test completed on a computer could serve as a digital biomarker for early motor changes. Her research looked at both sporadic cases (with no known genetic cause) and genetic forms of FTD or ALS with the C9orf72 repeat expansion.
Overall, this meeting in Baltimore was an inspiring experience, bringing together researchers to advance progress in FTD-ALS research!
Luna Nordenström, on behalf of the FTD talk team.
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