Identifying challenges in neurofibromatosis: a modified Delphi procedure.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
received:
15
10
2020
accepted:
08
04
2021
revised:
06
04
2021
pubmed:
28
4
2021
medline:
23
3
2022
entrez:
27
4
2021
Statut:
ppublish
Résumé
Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are rare conditions with pronounced variability of clinical expression. We aimed to reach consensus on the most important manifestations meriting the development of drug trials. The five-staged modified Delphi procedure consisted of two questionnaires and a consensus meeting for 40 NF experts, a survey for 63 patient representatives, and a final workshop. In the questionnaires, manifestations were scored on multiple items on a 4-point Likert scale. The highest average scores for NF experts deciding the 'need for new treatment' were for malignant peripheral nerve sheath tumour (MPNST) (4,0) and high grade glioma (HGG) (3,9) for NF1; meningioma (3,9) for NF2 and pain (3,9) for SWN. The patient representatives assigned high scores to all manifestations, with plexiform neurofibroma being highest in NF1 (4,0), vestibular schwannoma in NF2 (4,0), and pain in SWN (3,9). Twelve experts participated in the consensus meeting and prioritised manifestations. MPNST was ranked the highest for NF1, followed by benign peripheral nerve sheath tumours. Tumour manifestations received highest ranking in NF2, and pain was the most prominent problem for SWN. Patient representative ratings for NF1 were similar to the experts' opinions, except that they ranked HGG as the most important manifestation. For NF2 and SWN, the patient representatives agreed with the experts. We conclude that NF experts and patient representatives consent to prioritise development of drug trials for MPNST, benign peripheral nerve sheath tumours, cutaneous manifestations and HGG for NF1; tumours for NF2; and pain for SWN.
Identifiants
pubmed: 33903738
doi: 10.1038/s41431-021-00892-z
pii: 10.1038/s41431-021-00892-z
pmc: PMC8071842
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1625-1633Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : Department of Health
ID : 1215-200074
Pays : United Kingdom
Informations de copyright
© 2021. The Author(s).
Références
Korf BR. Neurofibromatosis. Handb Clin Neurol. 2013;111:333–40.
doi: 10.1016/B978-0-444-52891-9.00039-7
Lu-Emerson C, Plotkin SR. The neurofibromatoses. Part 1: NF1. Rev Neurol Dis. 2009;6:E47–53.
pubmed: 19587630
Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010;152A:327–32.
doi: 10.1002/ajmg.a.33139
Blakeley JO, Plotkin SR. Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis. Neuro Oncol. 2016;18:624–38.
doi: 10.1093/neuonc/nov200
EU-PEARL. EU-PEARL (EU Patient-Centric Clinical Trial Platform). 2020. https://eu-pearl.eu/ .
Ferner RE. The neurofibromatoses. Pract Neurol. 2010;10:82–93.
doi: 10.1136/jnnp.2010.206532
Evans DGR. Neurofibromatosis type 2. Handb Clin Neurol. 2015;132:87–96.
doi: 10.1016/B978-0-444-62702-5.00005-6
Evans DG, Huson S, Legius E, Messiaen LM, Plotkin SR, Wolkenstein P. Revision of the diagnostic criteria of the neurofibromatoses. NF Conference. 2019. https://www.ctf.org/images/uploads/documents/Revised_Diagnostic_Criteria_for_Experts_2019_09_21_(1).pdf
Williams PL, Webb C. The Delphi technique: a methodological discussion. J Adv Nurs. 1994;19:180–6.
doi: 10.1111/j.1365-2648.1994.tb01066.x
Akins RB, Tolson H, Cole BR. Stability of response characteristics of a Delphi panel: application of bootstrap data expansion. BMC Med Res Methodol. 2005;5:37.
doi: 10.1186/1471-2288-5-37
NF Patients United: Global network of neurofibromatosis patient organisations. 2021. https://www.nf-patients.eu/ .
Children’s Tumor Foundation. 2021. https://www.ctf.org/ .
Trevelyan EG, Robinson PN. Delphi methodology in health research: how to do it? Eur J Integr Med. 2015;7:423–8.
doi: 10.1016/j.eujim.2015.07.002
Murphy MK, Black NA, Lamping DL, McKee CM, Sanderson CF, Askham J, et al. Consensus development methods, and their use in clinical guideline development. Health Technol Assess. 1998;2:i–iv. 1–88.
pubmed: 9561895
Humphrey-Murto S, Varpio L, Wood TJ, Gonsalves C, Ufholz LA, Mascioli K, et al. The use of the Delphi and other consensus group methods in medical education research: a review. Acad Med. 2017;92:1491–8.
doi: 10.1097/ACM.0000000000001812
Uusitalo E, Rantanen M, Kallionpää RA, Pöyhönen M, Leppävirta J, Ylä-Outinen H, et al. Distinctive cancer associations in patients with neurofibromatosis type 1. J Clin Oncol. 2016;34:1978–86.
doi: 10.1200/JCO.2015.65.3576
Huttner AJ, Kieran MW, Yao X, Cruz L, Ladner J, Quayle K, et al. Clinicopathologic study of glioblastoma in children with neurofibromatosis type 1. Pediatr Blood Cancer. 2010;54:890–6.
pubmed: 20310005
Marchese MJ, Chang CH. Malignant astrocytic gliomas in children. Cancer. 1990;65:2771–8.
doi: 10.1002/1097-0142(19900615)65:12<2771::AID-CNCR2820651227>3.0.CO;2-J
Sposto R, Ertel IJ, Jenkin RD, Boesel CP, Venes JL, Ortega JA, et al. The effectiveness of chemotherapy for treatment of high grade astrocytoma in children: results of a randomized trial. A report from the Childrens Cancer Study Group. J Neurooncol. 1989;7:165–77.
doi: 10.1007/BF00165101
Wen PY, Kesari S. Malignant gliomas in adults. N Engl J Med. 2008;359:492–507.
doi: 10.1056/NEJMra0708126
Verburg N, Hoefnagels FWA, Barkhof F, Boellaard R, Goldman S, Guo J, et al. Diagnostic accuracy of neuroimaging to delineate diffuse gliomas within the brain: a meta-analysis. AJNR Am J Neuroradiol. 2017;38:1884–91.
doi: 10.3174/ajnr.A5368
Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 2005;65:1037–44.
doi: 10.1212/01.wnl.0000179303.72345.ce
Torres Nupan MM, Velez Van Meerbeke A, López Cabra CA, Herrera, Gomez PM. Cognitive and behavioral disorders in children with neurofibromatosis type 1. Front Pediatr. 2017;5:227.
doi: 10.3389/fped.2017.00227
Varni JW, Nutakki K, Swigonski NL. Pain, skin sensations symptoms, and cognitive functioning predictors of health-related quality of life in pediatric patients with Neurofibromatosis Type 1. Qual Life Res. 2019;28:1047–52.
doi: 10.1007/s11136-018-2055-5
Vranceanu AM, Merker VL, Park ER, Plotkin SR. Quality of life among children and adolescents with neurofibromatosis 1: a systematic review of the literature. J Neurooncol. 2015;122:219–28.
doi: 10.1007/s11060-015-1725-1
Payne JM, Barton B, Ullrich NJ, Cantor A, Hearps SJ, Cutter G, et al. Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1. Neurology. 2016;87:2575–84.
doi: 10.1212/WNL.0000000000003435
Stivaros S, Garg S, Tziraki M, Cai Y, Thomas O, Mellor J, et al. Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA). Mol Autism. 2018;9:12.
doi: 10.1186/s13229-018-0190-z
van der Vaart T, Plasschaert E, Rietman AB, Renard M, Oostenbrink R, Vogels A, et al. Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial. Lancet Neurol. 2013;12:1076–83.
doi: 10.1016/S1474-4422(13)70227-8