Copley-Merriman C, Yang X, Juniper M, Amin S, Yoo HK, Sen S. Impact of neurofibromatosis type 1 and plexiform neurofibromas on patient-reported health-related quality of life. Poster presented at the 2020 ISPOR Virtual Conference; May 2020. [abstract] Value Health. 2020 May 1; 23(Suppl 1):S344. doi: 10.1016/j.jval.2020.04.371.

OBJECTIVES: To identify the patient-reported health-related quality of life (HRQOL) of patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN).

METHODS: A systematic literature review (SLR) was conducted in PubMed, Embase, and Cochrane from January 1, 2009, to May 31, 2019, using search terms for impact on patient (all ages) HRQOL. The HRQOL SLR was part of a broader SLR to understand patient characteristics, treatment patterns, and health care resource use and costs associated with NF1 + PN.

RESULTS: Seven studies were identified that described the HRQOL of children, adolescent, and adult patients with NF1 + PN, including development of a conceptual model (n=1), conduct of a HRQOL cross-sectional survey study (n= 2), conduct of a phase 2 longitudinal study measuring HRQOL (n=1), and measuring pain interference with HRQOL (n=3). The conceptual framework included five domains: pain, social functioning, physical function impact, stigma, and emotional distress. In a survey study, HRQOL was more altered for patients with NF1 + PN than patients with NF-1 without PN regarding symptoms and feelings, and during school or holidays. In another survey study, children with NF1 + PN reported worse HRQOL scores than population norms on most domains. Children with NF1 + PN reporting pain also had significantly worse symptoms and functioning on most HRQOL domains compared with population norms. Pain interferes with daily functioning in most youth with NF1 + PN even when using pain medication. In a phase 2 longitudinal study with selumetinib, 74% of patients had clinically significant decreases of > 2 points in their target tumor pain from baseline to cycle 12, and child physical domain scores improved significantly (p<0.05).

CONCLUSIONS: NF1 + PN has a substantial impact on HRQOL including physical, social, and emotional function, and pain, highlighting the need for effective drug therapies.

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