Preventable Axon Degeneration In Human Disease
Research type
Research Study
Full title
Preventable Axon Degeneration In Human Disease
IRAS ID
298211
Contact name
Mary Reilly
Contact email
Sponsor organisation
University College London
Duration of Study in the UK
4 years, 11 months, 31 days
Research summary
The genes underlying many inherited neuropathies remain unidentified and the variability of axon degeneration in inherited neuropathies, diabetic neuropathy, chemotherapy induced neuropathy and multiple other neuropathies and other neurological diseases is poorly understood. These are vital therapeutic opportunities, especially if there are common mechanisms. Our hypothesis is that Wallerian degeneration is one such mechanism, contributing to axon loss in multiple human diseases. Wallerian degeneration has been well characterised in animals. It can be alleviated by gene mutation and sometimes completely prevented. Some treatments blocking this mechanism are under development and we are studying whether mutations in some specific genes are responsible for some rare neuropathies or whether some gene variants could be a risk factor in developing acquired neuropathies (e.g chemotherapy induced neuropathy, diabetic neuropathy).
This research study is designed and will be conducted by an expert in Wallerian degeneration mechanism along with leading clinical experts in inherited and acquired neuropathies.
To conduct this type of study we need to carefully examine patients with a number of neurological disorders including inherited neuropathies, diabetic neuropathy, chemotherapy induced neuropathy, chronic idiopathic peripheral neuropathy, motor neuron disease, Hereditary Spastic Paraparesis and Ataxia.Another aim of the study will be to develop molecular markers of wallerian degeneration in human tissue (e.g nerve tissue).
REC name
London - Brighton & Sussex Research Ethics Committee
REC reference
22/PR/0426
Date of REC Opinion
17 Aug 2022
REC opinion
Further Information Favourable Opinion