Test-retest reliability of functional measures in neurofibromatosis 1
Research type
Research Study
Full title
A study investigating the test- and retest reliability of a battery of functional standardised outcome measures in adults with neurofibromatosis 1.
IRAS ID
253954
Contact name
Amelia Khan
Contact email
Sponsor organisation
Guy's & St Thomas' Foundation NHS Trust
Clinicaltrials.gov Identifier
n/a, n/a
Duration of Study in the UK
3 years, 11 months, 30 days
Research summary
Neurofibromatosis 1 (NF1) is a common inherited condition affecting about 1 per 2500 births. Due to the impact of its hallmark lesions, (neurofibromas) and its impact on the eyes, bones and nervous system, people with NF1 can often experience functional difficulties in their daily lives. There are multiple complications associated with NF1 which can vary, even within families, from moderate to severe. Functional difficulties define challenges that people living with NF1 may experience during functional tasks such as getting dressed, walking and standing to make a meal. There are several commonly used standardised outcome measures (SOM) that assess function in other neurological conditions (multiple sclerosis and cancers) but they have never undergone scientific evaluation in NF1. SOM are an important way of evaluating individual treatment and novel therapy and therefore it is important to evaluate these SOM within this population before their use in research and clinical practice.
This is a single centre study recruiting NF1 patients attending the National Centre for Neurofibromatosis at Guy’s Hospital. Participants will undergo a basic neurological assessment, complete a short quality of life questionnaire and complete 4 outcome measures (the timed 10m walk test, timed up and go test, functional reach test and grip dynamometry) on 2 research study visits, each 14 days apart, lasting approximately 60 minutes each. The aim of the study is to investigate how stable and reliable the 4 outcome measures are over time in assessing function in this patient group.REC name
South East Scotland REC 01
REC reference
19/SS/0066
Date of REC Opinion
6 May 2019
REC opinion
Favourable Opinion