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Reliability of Functional Outcome Measures in Neurofibromatosis 2

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03617276
Recruitment Status : Completed
First Posted : August 6, 2018
Last Update Posted : August 6, 2018
Information provided by (Responsible Party):
Guy's and St Thomas' NHS Foundation Trust

Brief Summary:
Neurofibromatosis 2 (NF2) is a rare inherited condition. Those with NF2 usually present with tumours (schwannomas) in their inner ear, or vestibular organ, with common symptoms including problems with hearing, balance, dizziness and vision. This study aims to evaluate the reliability (stability) of a range of functional standardised outcome measures in adults with NF2.

Condition or disease
Neurofibromatosis 2

Detailed Description:

Neurofibromatosis 2 (NF2) is an inherited condition that occurs in 1 in 33,000 births; affecting hearing, balance, dizziness and vision primarily related to tumours (schwannomas) in the inner ear or other tumours which develop within the central nervous system. Neuropathy may also be an issue for people with NF2.

The complications of NF2 can lead to varied difficulties with activities of daily living and may impair quality of life. More recently, new pharmacological treatments for NF2 are being trialed which may have the potential to dramatically influence quality of life for people with NF2. Currently, evaluation of treatment effect in NF2 is based on a clinician's neurological assessment and imaging. However, imaging results do not always correlate with clinical and reported functional changes of the individual. Therefore, evaluating the effect of interventions or treatment should include the evaluation of a person's function using standardised outcome measures. The findings from this study will improve the care of people with NF2 by ensuring that we are able to measure functional changes in a person with NF2 with greater confidence, meaning that we can start, continue or cease treatments based on the holistic picture of an individual.

The world confederation of physiotherapists (WCPT) stipulates that standardised outcome measures (SOM) are used to provide a quantitative measure of capability, and to evaluate the impact of treatment on function. There are a wide range of SOM's that evaluate function so a SOM is chosen by the clinician based on the patient's presenting functional difficulty and the scientific credibility of the SOM. Scientific credibility (robustness) is based on scientific properties of the SOM i.e. how stable the SOM is (reliability) and whether it assesses what it is intending to assess (validity). It is important to evaluate each SOM within the target population as variability within that condition, strongly influences the SOM's reliability and validity (de Vel 2011).

At present, functional SOM's have limited scientific and subsequent clinical credibility when used in people with NF2 because their scientific properties have not yet been evaluated within this patient group which means that if they are used clinically or within research, there is an inherent element of doubt when interpreting the SOM's results. The objective of this research team is to create a core set of functional SOM's which have undergone rigorous scientific evaluation so that they can be used in the future for clinical practice and for research purposes in adults with NF2.

This study primarily aims to evaluate three commonly used SOM's for reliability in adults with NF2 (over 16 years of age). The measures chosen for evaluation are the nine hole peg test, the four square step test and the modified clinical test of sensory integration and balance (mCTSIB). Interrater reliability (the test result remains the same when reviewed by different people) and intrarater reliability (the test result remains stable when reviewed twice by the same tester) will be evaluated. From this data, we will be able to calculate the standard error of measurement an additional important scientific characteristics of SOM evaluation. A secondary objective is to correlate SOM objective markers with a subjective disease specific quality of life measure (NFTI-QOL) and self-reported falls rate and near misses. We will also collect data on dynamic visual acuity in this patient group.

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Study Type : Observational
Actual Enrollment : 30 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Study Investigating the Inter- and Intra- Rater Reliability of Functional Outcome Measures in Neurofibromatosis 2
Actual Study Start Date : September 7, 2016
Actual Primary Completion Date : May 17, 2017
Actual Study Completion Date : May 17, 2017

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 modified nine-hole peg test, the four square step test and the modified clinical test of sensory integration and balance. A doctor 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 NF2 consultants and one NF2 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. Each participant will also be required to complete the INFI-QOL questionnaire, the dynamic visual acuity test and provide information about the number of falls/near misses they have had over the past 12 months

Primary Outcome Measures :
  1. Modified nine hole peg test [ Time Frame: Up to 3 minutes ]
    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.

  2. Four square step test [ Time Frame: Up to 30 seconds ]
    This is a test of balance when moving. Participants are asked to step forwards, sideways and backwards in a specific pattern. The rater times how long it takes to complete the test

  3. Modified Clinical Test of Sensory Integration and Balance [ Time Frame: Up to 10 minutes ]
    This is a test of standing balance. Participants are asked to stand upright with the feet together, first on a hard surface (the floor) and then on a soft surface (some foam). The rater will time the participant standing in each position with the eyes open and shut.

Secondary Outcome Measures :
  1. Dynamic Visual Acuity test [ Time Frame: Up to 3 minutes ]
    This is a test of vision when the head is turning. The participant is asked to read letters from a computer screen when the head is still then when it is being turned by a physiotherapist. The rater measures the accuracy of vision

  2. The NFTI-QOL: A Disease-Specific Quality of Life Questionnaire for Neurofibromatosis 2 [ Time Frame: Up to 2 minutes ]
    An eight question, self-report, disease specific quality of life questionnaire. Participants rate problems experienced within eight domains (balance, hearing, facial weakness, sight, walking, outlook on life, pain, mood) as no issues, slight problems, some difficulties, severe difficulties)

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   16 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
All adults (over the age of 16 years) with a clinical diagnosis of neurofibromatosis 2 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.

Inclusion Criteria:

Fulfill diagnostic criteria for NF2 Aged 16 years or older Attend the national NF service at Guys and St Thomas' NHS Foundation Trust Are able to provide informed consent Do not have any non-NF2 related comorbidities that affect mobility or balance (confirmed by the treating clinician) Are able to walk more than 10m without assistance of a person Do not have unstable vascular or orthopaedic pathology at the cervical spine (confirmed by consultant) Have not had a stroke within the last 3 months

Exclusion Criteria:

Do not fulfill diagnostic criteria for NF2 Aged under 16 years or older Are unable to provide informed consent Have non-NF2 related comorbidities that affect mobility or balance (confirmed by the treating clinician) Are unable to walk more than 10m without assistance of a person Have unstable vascular or orthopaedic pathology at the cervical spine (confirmed by consultant) Have had a stroke within the last 3 months

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03617276

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United Kingdom
Neurofibromatosis Unit, Guys Hospital.
London, United Kingdom, SE1 9RT
Sponsors and Collaborators
Guy's and St Thomas' NHS Foundation Trust

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Responsible Party: Guy's and St Thomas' NHS Foundation Trust Identifier: NCT03617276     History of Changes
Other Study ID Numbers: 16/NW/0504
First Posted: August 6, 2018    Key Record Dates
Last Update Posted: August 6, 2018
Last Verified: August 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: No plan to share individual participant data with other researchers- this was not agreed in our ethical plan

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Neurofibromatosis 1
Neurofibromatosis 2
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Neoplasms
Nervous System Neoplasms
Neuroma, Acoustic
Neuroendocrine Tumors
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal
Vestibulocochlear Nerve Diseases
Retrocochlear Diseases
Ear Diseases
Otorhinolaryngologic Diseases
Otorhinolaryngologic Neoplasms
Cranial Nerve Neoplasms