Disorders

Research Grant - 2024

Research Category: Neuromuscular incl. Muscular Dystrophies, Myopathies & Neuropathies

Dr Antonia Carroll was the recipient of Brain Foundation grant funding in 2024

Neuromuscular incl. Muscular Dystrophies, Myopathies & Neuropathies

Neuromuscular incl. Muscular Dystrophies, Myopathies & Neuropathies
18F-Florbetaben PET-CT in Peripheral Nerve Amyloidosis: a pilot study
Dr Antonia Carroll
Brain and Mind Centre
Co-Investigators : Dr Georgios Angelis, Dr Fiona Kwok

Watch Dr Antonia Carroll accept the research grant award and hear a bit about the project.

Project Summary:

Amyloid neuropathies (AN) are a growing group of debilitating peripheral nerve disorders, resulting in weakness, sensory disturbance, pain and functional impairment for patients. AN are frequently misdiagnosed, in up to 61% of cases, leading to delays in diagnosis, accumulated disability and side effects from inappropriate treatments. Recently advances in targeted treatments have dramatically improved life expectancy in amyloidosis, making early diagnosis essential. Typically, the diagnosis of AN requires a tissue biopsy. However, diagnosis is made difficult in isolated nerve disease by the patchy deposition of nerve amyloidosis, such that standard sural nerve biopsy has a sensitivity of only 30%. As a result, clinicians are often unable to definitively confirm amyloidosis and hence are unable to provide targeted treatments. 

Amyloid PET-CT scans have emerged as a useful imaging modality to identify amyloid deposits in Alzheimer’s disease, and in the heart in systemic amyloidosis. However, the utility in peripheral nerve amyloidosis has not yet been systematically studied. This pilot study aims to leverage the novel imaging capabilities available at the Australian National Total Body PET Facility to identify if Amyloid PET-CT can detect peripheral nerve amyloidosis, and systemic uptake, in different populations with systemic amyloidosis, including groups with typical length-dependent neuropathy, plexopathy and small fibre and autonomic neuropathy. Concurrently, we will evaluate whole body amyloid deposition, and correlate this with existing amyloid staging tests. We aim to generate a global amyloid burden score, a potential future clinical trial endpoint, and will correlate this with current amyloid grading scores. Positive identification of amyloid deposits, will allow for imaging-targeted biopsy, thereby confirming this challenging diagnosis and allowing clinicians to prescribe targeted therapies.

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