Neuromuscular Disease
Early diagnosis of amyloid- and paraprotein- associated neuropathies
Dr Antonia Carroll
Brain and Mind Centre, University of Sydney
Co-Investigators : Dr Neil Simon

Project Summary:

Amyloid and paraprotein-associated neuropathies (APAN) are a neglected group of debilitating peripheral nerve disorders, resulting in weakness, sensory disturbance, pain and functional impairment for patients, including difficulty walking and performing activities of daily living. APAN are frequently misdiagnosed, leading to delays in correct diagnosis, accumulated disability and side effects from inappropriate treatments.

APAN are a growing problem in an ageing population; while 1% of the population have a paraprotein during their lifetime, this increases to 7% by age 80. Furthermore, 10% of patients with peripheral neuropathy of unclear cause are found to have a paraprotein during their work up. Despite the prevalence and breadth of the APAN, there is currently no consensus on the best diagnostic pathways or treatment in most of these cases.

Early diagnosis of APAN is increasingly important, as new therapies have been developed, which only improve patient outcomes if individuals are treated early in the disease course. Early diagnostic techniques and definition of the optimum time to initiate treatment is therefore particularly important in this group.

This project aims to identify the distinguishing clinical and investigative features of the various APAN in order to improve diagnostic algorithms. In addition, we will evaluate the utility of electrophysiological and imaging techniques, identifying biomarkers to aid early diagnosis of APAN. Furthermore, we will evaluate the use of biochemical testing to identify markers of early damage to the peripheral nerve and disease progression.

By identifying early diagnostic markers and biomarkers to monitor disease progression, this research has the potential to significantly improve patient outcomes and quality of life in the APAN. Research providing further clarity to the underlying pathological mechanisms of APAN and early diagnostic tools are essential to the development and success of novel, targeted treatments, and hence positive long term outcomes for patients.

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