Reliability of Functional Outcome Measures in Neurofibromatosis 1

NCT02479360 | Completed

• 1 other identifier: RJ115/N174
• Study Type: observational
• Target: 49
• Locations: 1 country
• Sites: 1

Brief Summary

Neurofibromatosis 1 (NF1) is a common inherited condition that affects the skin, bone and nervous system. The complications of NF1 are widespread and can lead to varied difficulties dependent on the location of neurofibromas and their secondary complications. At present evaluation of the effect of treatments in NF1 is based on a clinician's neurological assessment, magnetic resonance imaging and positron emission tomography but it is apparent that imaging results do not always link with clinical and functional changes in an individual. This study aims to evaluate the reliability (stability) of a range of functional standardised outcome measures in adults with NF1.

Conditions

Neurofibromatosis 1, NF1

Outcome Measures

Primary Outcomes (4)

• 10 metre walk test

  Participant is asked to stand at a point 2.5m before the start of a 10 metre walk way. They are advised to walk at their 'normal speed' from here to (a point 2.5m beyond the 10m walk way). The assessor times from the moment the participant's leading foot crosses the start point for the 10 metre walk way until the toes of the participant's leading foot crosses the end of the 10m walk way. Measurements are recorded in seconds and milliseconds. Participants can use their normal aids and orthotics if needed.

  Between 5 and 30 seconds per test on average.

• Functional Reach test

  Participant stands with arms straight out in front of him/herself at shoulder level and hands forming fists. The assessor sticks a ruler to the wall at the end of their hands. Participant is advised to lean forwards as far as they can without falling over and the assessor measures the distance they can reach against the metre ruler in centimetres and millimetres.

  30 seconds per test

• 9 hole peg test

  Participant is sitting comfortably in a chair in front of a desk. The 9 hole peg test equipment is set up so that the bowl containing pegs is directly behind the pegboard and in front of the participant. Participants can rest the forearms on the desk but must use only 1 hand for each test. If not the test is invalid. The assessor measures from the time the fingers pick up the first peg from the bowl until the fingers place the last peg in the hole of the pegboard. Time will be recorded in seconds and milliseconds.

  Up to 60 seconds per hand.

• Timed up and go test

  Participant sits in a chair at the end of the 3m walkway. S/he is asked to stand up from the chair walk to the line, turn around once they reach the line and return to the chair. If they do not touch the line during the test, the test is invalid. The participant can use any aids/ orthotics that they normally use. The assessor will time from the moment the participants back leaves the backrest until it touches it again at the end of the test. Time will be recorded in seconds and milliseconds.

  Up to 60 seconds

Study Arms (1)

Outcome measurement

Each participant will be asked to complete each standardised outcome measure (SOM) three times and each trial will be videotaped by the researcher. The selected SOM's are the 10 metre walk test, the timed up and go test, the functional reach test and the nine-hole peg test. A physiotherapist will watch the video on 2 separate occasions to evaluate intra-rater reliability. Inter-rater reliability will be assessed through asking three other neurofibromatosis specialist professionals (two NF1 consultants and one NF1 specialist nurse) to review the video and to score each measure completed. Once the filmed sessions have been analysed by the relevant clinician's the data will be destroyed in line with Trust policy.

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All adults (over the age of 16 years) with a clinical diagnosis of neurofibromatosis 1 who attend the neurofibromatosis clinic for appointments at Guys hospital, London and who fit the inclusion/exclusion criteria for the trial are eligable to participate in the study.

You may qualify if:

• All patients aged 16 years or older who fulfil the diagnostic criteria for NF1 who do not have a significant mobility or balance impairment that is unrelated to their NF1,
• Able to walk more than 10 metres without physical assistance (may use walking aids)
• Patients who attend the national NF1 service at GSTT

You may not qualify if:

• Patients who are unable to provide informed consent will be unable to participate in this study.

Sponsors & Collaborators

• Guy's and St Thomas' NHS Foundation Trust: lead

Study Sites (1)

Neurofibromatosis Unit, Guys Hospital.

London, SE1 9RT, United Kingdom

Location

MeSH Terms

Conditions

Neurofibromatosis 1

Condition Hierarchy (Ancestors)

Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 19, 2015
• First Posted: June 24, 2015
• Study Start: June 1, 2015
• Primary Completion: September 1, 2015
• Study Completion: September 1, 2015
• Last Updated: October 6, 2015

Record last verified: 2015-06

Locations

GB (1)