Clinical trial NCT06339190: Neurofilament Light Chain And Voice Acoustic Analyses In Dementia Diagnosis
Official title: A Blood Test for Dementia? A Cohort Study to Assess the Diagnostic Utility of Plasma Neurofilament Light Chain Protein in All-cause Dementia
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Neurodegenerative Diseases
Dementia
Keywords: Alzheimer's disease
Dementia
Neurofilament light chain
Speech
Neurodegeneration
Biomarker
Health care disparity
Lead sponsor: Monash University
Sponsor class: OTHER
Collaborators: name: Eastern Health
name: University of Melbourne
name: Wake Forest University
name: Deakin University
name: The Florey Institute of Neuroscience and Mental Health
name: Invitae Corporation
name: Redenlab
First posted: 2024-04-01
Enrollment: 1000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: The study cohort will include any individual of all ages, ethnicities, identities and genders. This is to ensure that the findings are generalisable to other national healthcare networks and to provide maximum information on the utility of using blood-biomarker estimation in real-world clinical settings

Brief summary: This cohort study aims to determine if a blood test can aid with diagnosing dementia in anyone presenting with cognitive complaints to a single healthcare network. The investigators will measure levels of a brain protein, Neurofilament light chain (Nfl), and assess changes in language using speech tests.

Participants will have a single blood test and speech test, and will be followed up at 12-months to complete questionnaires and cognitive scales over the phone. The speech test will also be completed again at 12-months.

Individuals at risk of a Fronto-temporal dementia syndrome will be eligible to complete optional genetic testing involving an 'at home' saliva sample.

Detailed description: Problem: There is no "gold-standard test" to detect all forms of dementia. People can present with subtle changes that are missed on standard cognitive screening tests, which are not designed for people whose first language is not English or from diverse cultural and educational backgrounds. State-of-the art brain imaging is only available to Australians living in large urban centres, further entrenching health care inequities. The lack of validated diagnostic tests and pathways causes diagnostic delays, increases patient and caregiver stress. Therapies are on the horizon for many forms of dementia - not only Alzheimer's disease - meaning that the lack of identification of simple dementia diagnostic biomarkers represents a critical knowledge gap.

Mission: New technologies now allow us to test abnormal brain protein levels in a routine peripheral blood test, record a voice sample to analyse its acoustics and reveal brain disease, and perform "mail-out" genetic tests using a simple saliva sample. The levels of a brain derived blood protein, neurofilament light chain (NfL), will be estimated and natural language processing and acoustic analysis will be measured in all patients presenting with cognitive complaints to a single healthcare network servicing 1 million ethnically and culturally diverse Australians. Researchers will investigate the utility of early genetic testing for those at high risk of a genetic cause for their disease. They will use these data to develop diagnostic pathways, leveraging existing collaborations to develop future screening programs. Early to mid-career researchers will be supported to translate new technologies into clinical practice in the shortest practicable time-frame.

Significance: Accessible and cost effective tests will inform new pathways to dementia diagnosis. This will transform the dementia landscape, shortening time to diagnosis, increasing diagnostic certainty, and allowing more Australians access to appropriate care, education, and future therapies.

Eligibility criteria: Inclusion Criteria:

* All patients presenting to Eastern Health services with a cognitive complaint or potential neurodegenerative disorder

Exclusion Criteria:

* Prognosis \<12 months
* No cognitive complaint
* Patients not involved within the single healthcare network

Primary outcomes:
measure: Baseline NfL level
timeFrame: Day 0
Secondary outcomes:
measure: Change in speech processing
timeFrame: Day 0 and 12-months
measure: Change in language processing
timeFrame: Day 0 and at 12-months
measure: Change in Direct Magnitude Estimation
timeFrame: Day 0 and at 12-months
Other outcomes:
measure: Modified Rankin Scale
timeFrame: Day 0 and at 12-months
measure: Montreal Cognitive Assessment score
timeFrame: At 12-months
measure: Hospital Anxiety and Depression Scale score
timeFrame: At 12-months
measure: Clinical Global Impression score
timeFrame: At 12-months
measure: WHO Disability Assessment 12-item telephone interview score
timeFrame: At 12-months
measure: WHO Disability Assessment 36-item self report score
timeFrame: At 12-months
measure: DNA sample for testing known pathogenic dementia mutations
timeFrame: Anytime before 12-months
Locations:
city: Box Hill
country: Australia
facility: Box Hill Hospital
state: Victoria
city: Wantirna
country: Australia
facility: Wantirna Health
state: Victoria
Study officials:
affiliation: Monash University
name: Prof. Amy Brodtmann, MBBS, FRACP, PhD, FANZAN
role: PRINCIPAL_INVESTIGATOR
References: