Hereditary neuropathies
Research type
Research Study
Full title
Investigating the Epidemiology and Pathogenicity of Hereditary Neuropathies
IRAS ID
340245
Contact name
John McConville
Contact email
Sponsor organisation
South Eastern Health and Social Care Trust
Duration of Study in the UK
0 years, 11 months, 30 days
Research summary
This project will study a group of patients with rare genetic defects leading to problems with motor nerves. This leads to progressive wasting and weakness of limb muscles but also of the vocal cord muscles, which can cause sudden and life threatening difficulty with breathing. The disorder is currently poorly understood owing to its rarity, but is essential to diagnose correctly in order to facilitate early management of respiratory complications. The research will study the patterns of nerve damage using clinical examination, neurophysiological tests and MRI. In addition, the project will look in more detail at the genetics of hereditary neuropathy, with the aim of increasing our understanding of how it is inherited.
REC name
HSC REC A
REC reference
24/NI/0056
Date of REC Opinion
1 Jul 2024
REC opinion
Further Information Favourable Opinion