Natural History and Disease Burden of Neurofibromatosis Type 1 with Plexiform Neurofibromas: A Systematic Literature Review

Abstract

Neurofibromatosis type 1 (NF1) is an incurable genetic condition that frequently includes the development of plexiform neurofibromas (PNs) in patients. A systematic literature review was conducted to identify data on the natural history, disease burden, and treatment patterns among patients diagnosed with NF1 and PN, as well as to identify evidence gaps in these areas. MEDLINE and MEDLINE In-Process, Embase, and Cochrane Library Searches were searched using predefined terms. Potential references underwent two phases of screening by two independent researchers. A total of 39 references focusing on populations of patients with both NF1 and PN were included in this review. The wide range of PN-related complications creates a substantial quality-of-life (QOL) burden for patients, including pain, social functioning, physical function impact, stigma, and emotional distress. The severe burden of NF1 with PN on the QOL of patients demonstrates the high unmet need for an effective treatment option that can reduce tumor burden and improve QOL. The heterogeneity of measurement tools used to evaluate QOL and the gap in data evaluating the health economic burden of PN should be the focus of future research.

Keywords:

• neurofibromatosis type 1
• plexiform neurofibromas
• quality of life
• natural history
• review

Acknowledgments

The authors acknowledge Brian Samsell of RTI Health Solutions for medical writing assistance.

Disclosure

CCM and MJ are full-time employees of RTI Health Solutions, an independent nonprofit research organization, which received funding pursuant to a contract from Merck to conduct the study, which is the subject of this manuscript. XY is an employee of Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Kenilworth, NJ, USA, and holds shares in Merck & Co., Inc., Kenilworth, NJ, USA stock. SSS was an employee of Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Kenilworth, NJ, USA, at the time the study was conducted. SA and HKY are employees of AstraZeneca and hold shares in AstraZeneca stock.

Additional information

Funding

The financial support for the study was provided by Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Kenilworth, NJ, USA, and AstraZeneca. RTI Health Solutions received funding under a research contract with Merck Sharp & Dohme Corp., a subsidiary of Merck & Co., Inc., Kenilworth, NJ, USA, to conduct this study and provide editorial support in the form of manuscript writing, styling, and submission.