Functional Outcomes 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

Current Work

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.

Publications

1. 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. [PDF]

2. 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. [PDF]

3. 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. [PDF]

4. 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. [PDF]

Presentations

CTF Functional Outcomes Poster AG BW 6-13-16.pptx

Resources

Last updated by Lessing, A on May 15, 2026