Reliability of functional outcome measures in neurofibromatosis 1
Research type
Research Study
Full title
A study investigating the inter- and intra-rater reliability a battery of functional standardised outcome measures in adults with neurofibromatosis 1
IRAS ID
167964
Contact name
Rebecca Mullin
Contact email
Sponsor organisation
Guys and St Thomas' NHS Foundation Trust
Duration of Study in the UK
0 years, 4 months, 20 days
Research summary
Neurofibromatosis 1 (NF1) is a common inherited condition affecting about 1 per 2500 births. The hallmark lesions, neurofibromas are benign nerve sheath tumours that cause people with NF1 (pwNF1) to experience functional difficulties in their daily lives and these can vary from person to person based on the size and location of neurofibromas and their secondary complications. Functional difficulties describe challenges that pwNF1 may experience during functional tasks such as getting dressed, walking and standing to make a meal.
Recently, there have been advances in molecular biology and new therapies targeting serious complications of NF1 have been developed. Currently, the mainstay of treatment evaluation in NF1 is neuroimaging, but this does not always go hand in hand with improvements in function. We aim to assess pwNF1 holistically through combining imaging, assessment with appropriate clinical measures and a patient report outcome measure.
There are several commonly used standardised outcome measures (SOM’s) that assess function in similar conditions such as multiple sclerosis and cancers but they have never undergone scientific evaluation in NF1. It is important to evaluate a SOM within the target disease population before it is used in research and clinical practice, as variability within disease group impacts on how stable SOM results may be (reliability).
This study aims to evaluate four commonly used SOM’s for reliability in adults with NF1- the 10 metre walk test, timed up and go test, functional reach test and the nine-hole peg test. Inter-rater reliability (the test result remains the same when reviewed by different people) and intra-rater reliability (the test result remains stable when reviewed twice by the same tester) will be evaluated as the first stage in SOM evaluation within pwNF1.
REC name
London - Hampstead Research Ethics Committee
REC reference
15/LO/1084
Date of REC Opinion
12 Jun 2015
REC opinion
Favourable Opinion