Ashley Cannon1, Dominique C Pichard2, Pamela L Wolters2, Sarah Adsit2, Gregg Erickson2, Andrés J Lessing2, Peng Li2, Whitney Narmore2, Claas Röhl2, Tena Rosser2, Brigitte C Widemann2, Jaishri O Blakeley2, Scott R Plotkin2. 1. From the Department of Genetics (A.C., W.N.) and School of Nursing (P.L.), University of Alabama at Birmingham; Dermatology Branch, National Institutes of Arthritis, Musculoskeletal, and Skin Diseases (D.C.P.), and Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute (D.C.P., P.L.W., B.C.W.), NIH, Bethesda, MD; Children's Tumor Foundation (S.A.), New York, NY; Neurofibromatosis Network (G.E.), Wheaton, IL; Neurofibromatosis Northeast (A.J.L.), Burlington, MA; NF Kinder (C.R.), Vienna, Austria; Children's Hospital Los Angeles (T.R.); Keck School of Medicine (T.R.), University of Southern California, Los Angeles; Neurology (J.O.B.), Johns Hopkins School of Medicine, Baltimore, MD; and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston. ashleycannon@uabmc.edu. 2. From the Department of Genetics (A.C., W.N.) and School of Nursing (P.L.), University of Alabama at Birmingham; Dermatology Branch, National Institutes of Arthritis, Musculoskeletal, and Skin Diseases (D.C.P.), and Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute (D.C.P., P.L.W., B.C.W.), NIH, Bethesda, MD; Children's Tumor Foundation (S.A.), New York, NY; Neurofibromatosis Network (G.E.), Wheaton, IL; Neurofibromatosis Northeast (A.J.L.), Burlington, MA; NF Kinder (C.R.), Vienna, Austria; Children's Hospital Los Angeles (T.R.); Keck School of Medicine (T.R.), University of Southern California, Los Angeles; Neurology (J.O.B.), Johns Hopkins School of Medicine, Baltimore, MD; and Department of Neurology and Cancer Center (S.R.P.), Massachusetts General Hospital, Boston.
Abstract
OBJECTIVE: To assess the perspectives of adults with neurofibromatosis 1 (NF1) regarding cutaneous neurofibroma (cNF) morbidity, treatment options, and acceptable risk-benefit ratio to facilitate the design of patient-centered clinical trials. METHODS: An online survey developed by multidisciplinary experts and patient representatives of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) cNF Working Group was distributed to adults with NF1 (n = 3,734) in the largest international database of individuals with any form of NF. Eligibility criteria included self-reported NF1 diagnosis, age ≥18 years, ≥1 cNF, and ability to read English. RESULTS: A total of 548 adults with NF1 responded to the survey. Respondents ranked appearance, number, and then location as the most bothersome features of raised cNF. Seventy-five percent of respondents considered a partial decrease of 33%-66% in the number or size of cNF as a meaningful response to experimental treatments. Most respondents (48%-58%) were willing to try available cNF treatments but were not aware of options outside of surgical removal. Regarding experimental agents, respondents favored topical, then oral medications. Most individuals (>65%) reported being "very much" or "extremely willing" to try experimental treatments, especially those with the highest cNF burden. Many respondents were not willing to tolerate side effects like nausea/vomiting (51%) and rash (46%). The greatest barriers to participation in cNF clinical trials were cost of participation and need to take time off work. CONCLUSIONS: Most adults with NF1 are willing to consider experimental therapies for treatment of cNF. These data will guide the design of patient-centered clinical trials for adults with cNF.
OBJECTIVE: To assess the perspectives of adults with neurofibromatosis 1 (NF1) regarding cutaneous neurofibroma (cNF) morbidity, treatment options, and acceptable risk-benefit ratio to facilitate the design of patient-centered clinical trials. METHODS: An online survey developed by multidisciplinary experts and patient representatives of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) cNF Working Group was distributed to adults with NF1 (n = 3,734) in the largest international database of individuals with any form of NF. Eligibility criteria included self-reported NF1 diagnosis, age ≥18 years, ≥1 cNF, and ability to read English. RESULTS: A total of 548 adults with NF1 responded to the survey. Respondents ranked appearance, number, and then location as the most bothersome features of raised cNF. Seventy-five percent of respondents considered a partial decrease of 33%-66% in the number or size of cNF as a meaningful response to experimental treatments. Most respondents (48%-58%) were willing to try available cNF treatments but were not aware of options outside of surgical removal. Regarding experimental agents, respondents favored topical, then oral medications. Most individuals (>65%) reported being "very much" or "extremely willing" to try experimental treatments, especially those with the highest cNF burden. Many respondents were not willing to tolerate side effects like nausea/vomiting (51%) and rash (46%). The greatest barriers to participation in cNF clinical trials were cost of participation and need to take time off work. CONCLUSIONS: Most adults with NF1 are willing to consider experimental therapies for treatment of cNF. These data will guide the design of patient-centered clinical trials for adults with cNF.
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