NatHis-NM-MDUK
Research type
Research Study
Full title
A Multicentre, Prospective, longitudinal and Observational Natural History Study for patients with Nemaline myopathy in the United Kingdom: NatHis-NM-MDUK
IRAS ID
335773
Contact name
Laurent Servais
Contact email
Sponsor organisation
University of Oxford/Research Governance, Ethics and Assurance
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Nemaline myopathies(NM) are genetically determined conditions that usually present with muscle weakness, breathing problems and difficultly feeding. The severity of NM varies from significant muscle weakness requiring a wheelchair, breathing and feeding support with signifcantly reduced life expectancy to milder forms in which the person remains able to walk and has a normal lifespan.
Current treatments for people living with NM are supportive only. Several potential therapies are in development which may be available in the next 5-10 years. The barrier to these becoming available is that there is little data available on the natural progression (natural history) of NM. This means that it would be difficult to do a clinical trial of a treatment because it is not known which assessments would be useful to measure or what normally happens during the lives of people with NM. Now is therefore the time to collect this information through this proposed study.
The four centres; Oxford, GOSH, Evelina, and Newcastle, have come together to develop the study. These centres aim to observe 45 patients over 3 years to collect data on the natural progression of the condition.
The standard of care for NM involves at least annual hospital appointments. To minimise participant burden, we aim to conduct study assessments in the hospital annually coinciding with participants’ routine appointment and by employing a physiotherapist to travel to see paediatric patients in their homes at 6 and 18 months. This is because the younger patients are more likely to change more quickly. The assessments include physiotherapy assessments, breathing tests and questionnaires.REC name
East of England - Cambridge South Research Ethics Committee
REC reference
24/EE/0114
Date of REC Opinion
20 Jun 2024
REC opinion
Further Information Favourable Opinion