Functional Outcomes
Standardized functional measures for hearing, facial function, pulmonary function, walking, sleep, and muscle strength in NF clinical trials.
Leadership
About This Group
The goal of functional outcomes working group is to identify standardized functional measures appropriate for use as endpoints in NF clinical trials. Our group reviews measures for types of physical functioning that can be affected by NF, including hearing, facial function, pulmonary function (breathing), walking and sleep.
Current group leader: Andrea Gross, MD Past group leader: Scott Plotkin, MD, PhD
The functional group is currently working on determining the best way for people with NF2-SWN related hearing loss to measure their hearing at home to help facilitate future decentralized trial designs. In addition, we are continuing to work towards additional ways to assess bone health in people with NF1.
Additional Information
No additional sections yet.
Working Group Snapshot & Focus Updates
Working on determining the best way for people with NF2-SWN related hearing loss to measure their hearing at home, to facilitate future decentralized trial designs. Also continuing to work towards additional ways to assess bone health in people with NF1.
Overview
The Functional Outcomes working group develops consensus recommendations for standardized functional measures for use in NF clinical trials. The group focuses on hearing, facial function, pulmonary function, gait and walking ability, sleep, and muscle strength.
Current Projects
Current projects include designing a trial to establish the reliability of hand-held dynamometry (HHD) for measurement of strength in individuals with NF, and researching the validity of measuring swallowing function in NF clinical trials.
Domains Covered
Hearing · Facial function · Pulmonary function · Gait and walking ability · Sleep · Muscle strength · Swallowing function
Goals
Identify and validate standardized, reliable functional outcome measures that can be used as primary or secondary endpoints in NF1, NF2, and schwannomatosis clinical trials. Establish inter-rater and test-retest reliability for key measures such as HHD.
Publications & References
Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1.
Gross AM, Plotkin SR, Watts NB, Fisher MJ, Klesse LJ, Lessing AJ, McManus ML, Larson AN, Oberlander B, Rios JJ, Sarnoff H, Simpson BN, Ullrich NJ, Stevenson DA. Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1. Clinical Trials. 2024;21(1):29-39. doi:10.1177/17407745231201338. PMID: 37772407.
Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2
Srivandana Akshintala, Nashwa Khalil, Kaleb Yohay, Alona Muzikansky, Jeffrey Allen, Anna Yaffe, Andrea M. Gross, Michael J. Fisher, Jaishri O. Blakeley, Beverly Oberlander, Miriam Pudel, Celia Engelson, Jaime Obletz, Carole Mitchell, Brigitte C.Widemann, David A. Stevenson, Scott R. Plotkin. Reliability of Handheld Dynamometry to Measure Focal Muscle Weakness in Neurofibromatosis Types 1 and 2. Neurology 2021. Aug 2021; 97 (7 Supplement 1) S99-S110; DOI:10.1212/WNL.0000000000012439.
Sleep and pulmonary outcomes for clinical trials of airway plexiform neurofibromas in NF1
Plotkin SR, Davis SD, Robertson KA, et al. Sleep and pulmonary outcomes for clinical trials of airway plexiform neurofibromas in NF1. Neurology 2016 Aug 16;87(7 Suppl 1):S13-20.
Achieving consensus for clinical trials The REiNS International Collaboration
Plotkin SR, Ardern-Holmes SL, Barker FG, et al. Hearing and facial function outcomes for neurofibromatosis 2 clinical trials. Neurology 2013 Nov 19;81:(21 Suppl 1)S25-S32.
Documents & Resources
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Membership is open to all interested parties. Meetings are primarily held by teleconference.
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