Multisystem Proteinopathies (MSP)
Research type
Research Study
Full title
Multisystem Proteinopathies: Comprehensive Clinical, Radiological, and Histological Characterisation in an International Multicentric Study
IRAS ID
358093
Contact name
Jordi Diaz Manera
Contact email
Sponsor organisation
Newcastle University
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Multisystem Proteinopathies (MSPs) are rare, inherited conditions caused by changes in certain genes. They can affect muscles, bones, the brain, and nerves, leading to muscle weakness, bone disease, movement problems, and sometimes dementia. Because MSPs are so uncommon and vary greatly from person to person, doctors often face delays or mistakes when diagnosing them.
This study will look back at medical records and existing test results from people around the world who have already been diagnosed with MSPs. No one will need to come in for extra visits or tests; only information and samples already collected for clinical care (like blood tests, muscle scans, and tissue samples) will be used. All personal details (names, full birthdates, hospital numbers) will be removed or replaced with codes so that each person remains anonymous.
Our goals are to:
1) Describe how and when different symptoms appear in MSP, and how the disease progresses over time.
2) Compare different genetic types of MSP to see which features or risks are shared and which are unique.
3) Find factors (such as age, gene variant, or test results) that predict how quickly the disease advances or affects life expectancy.
4) Provide clear information to help doctors diagnose MSP faster, guide patients and families, and lay the groundwork for future treatments and clinical trials.
REC name
London - City & East Research Ethics Committee
REC reference
25/PR/1382
Date of REC Opinion
8 Oct 2025
REC opinion
Favourable Opinion