@article{58f41e2f0b41497f819d8d0c36a04729,
title = "COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis",
abstract = "Purpose: People with pre-existing conditions may be more susceptible to severe COVID-19 when infected by SARS-CoV-2. The relative risk and severity of SARS-CoV-2 infection in people with rare diseases such as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), or schwannomatosis (SWN) is unknown. Methods: We investigated the proportions of people with NF1, NF2, or SWN in the National COVID Cohort Collaborative (N3C) electronic health record data set who had a positive test result for SARS-CoV-2 or COVID-19. Results: The cohort sizes in N3C were 2501 (NF1), 665 (NF2), and 762 (SWN). We compared these with N3C cohorts of patients with other rare diseases (98-9844 individuals) and the general non-NF population of 5.6 million. The site- and age-adjusted proportion of people with NF1, NF2, or SWN who had a positive test result for SARS-CoV-2 or COVID-19 (collectively termed positive cases) was not significantly higher than in individuals without NF or other selected rare diseases. There were no severe outcomes reported in the NF2 or SWN cohorts. The proportion of patients experiencing severe outcomes was no greater for people with NF1 than in cohorts with other rare diseases or the general population. Conclusion: Having NF1, NF2, or SWN does not appear to increase the risk of being SARS-CoV-2 positive or of being a patient with COVID-19 or of developing severe complications from SARS-CoV-2.",
keywords = "COVID-19, Electronic health record (EHR), Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2), Schwannomatosis",
author = "Jineta Banerjee and Friedman, {Jan M.} and Klesse, {Laura J.} and Yohay, {Kaleb H.} and Jordan, {Justin T.} and Plotkin, {Scott R.} and Allaway, {Robert J.} and Blakeley, {Jaishri O.}",
note = "Funding Information: Authorship was determined using the International Committee of Medical Journal Editors recommendations. The authors thank the Children's Tumor Foundation Clinical Care Advisory Board for their support and input during the conceptualization of this project; Tim Bergquist, Yao Yan, and Justin Guinney at Sage Bionetworks for their helpful input during the design of this project; and Harold Lehmann (Johns Hopkins School of Medicine) and Kenneth Wilkins (National Institute of Diabetes and Digestive and Kidney Diseases) for helpful and insightful discussions regarding the statistical analysis strategies described in this study. The analyses described in this publication were conducted using the data or tools accessed through the National Center for Advancing Translational Sciences (NCATS) National COVID Cohort Collaborative (N3C) Data Enclave (https://covid.cd2h.org) and the N3C Attribution and Publication Policy v 1.2-2020-08-25b supported by NCATS U24 TR002306. This research was possible because of the patients whose information is included within the data and the organizations (https://ncats.nih.gov/n3c/resources/data-contribution/data-transfer-agreement-signatories) and scientists who have contributed to the ongoing development of this community resource (https://doi.org/10.1093/jamia/ocaa196). The N3C data transfer to NCATS is performed under a Johns Hopkins University Reliance Protocol # IRB00249128 or individual site agreements with National Institutes of Health (NIH). The N3C Data Enclave is managed under the authority of the NCATS; information can be found at https://ncats.nih.gov/n3c/resources. The study was supported by funding from Neurofibromatosis Therapeutic Acceleration Program (NTAP). Conceptualization: J.B. J.M.F. L.J.K. K.H.Y. J.T.J. S.R.P. R.J.A. J.O.B.; Data Curation: J.B.; Formal Analysis: J.B.; Funding Acquisition: J.B. R.J.A. J.O.B.; Investigation: J.B. R.J.A.; Methodology: J.B. J.M.F. R.J.A.; Project Administration: J.B. R.J.A. J.O.B.; Resources: J.B. R.J.A.; Software: J.B.; Supervision: R.J.A. J.O.B.; Validation: J.B.; Visualization: J.B.; Writing-original draft: J.B. J.M.F. R.J.A. J.O.B.; Writing-review and editing: J.B. J.M.F. L.J.K. K.H.Y. J.T.J. S.R.P. R.J.A. J.O.B. Data access and analysis in this study were compliant with the research protocol (Sage Bionetworks #2021101002) approved by the Western Institutional Review Board (IRB) - Copernicus Group IRB (WCG IRB) and granted IRB-exempt status. Subsequently, a request (#RP-DD0EDC, “Investigating COVID-19 burden in neurofibromatosis type 1 patients”) for access to the de-identified N3C data set (phenotypic acquisition v3.3) was submitted and approved by the N3C Enclave Data Access Committee. Clinical institutions with formally executed data transfer agreements with the National Center for Advancing Translational Sciences (https://ncats.nih.gov/n3c/resources/data-contribution/data-transfer-agreement-signatories) contributed de-identified and retrospective electronic health record data associated with a limited set of patients relevant to COVID-19. As the steward of the data, National Center for Advancing Translational Sciences (NCATS) oversees the use of the data, and the Federal Risk and Authorization Management Program (FedRAMP) certified N3C Data Enclave through user registration, federated login, data use agreements with institutions, and data use requests with users. Thus, the data used in the study did not require informed consent from individual patients. This study does not include any individual patient information, and all analyses used aggregated and de-identified information. Funding Information: Authorship was determined using the International Committee of Medical Journal Editors recommendations. The authors thank the Children{\textquoteright}s Tumor Foundation Clinical Care Advisory Board for their support and input during the conceptualization of this project; Tim Bergquist, Yao Yan, and Justin Guinney at Sage Bionetworks for their helpful input during the design of this project; and Harold Lehmann ( Johns Hopkins School of Medicine ) and Kenneth Wilkins ( National Institute of Diabetes and Digestive and Kidney Diseases ) for helpful and insightful discussions regarding the statistical analysis strategies described in this study. The analyses described in this publication were conducted using the data or tools accessed through the National Center for Advancing Translational Sciences ( NCATS ) National COVID Cohort Collaborative (N3C) Data Enclave ( https://covid.cd2h.org ) and the N3C Attribution and Publication Policy v 1.2-2020-08-25b supported by NCATS U24 TR002306. This research was possible because of the patients whose information is included within the data and the organizations ( https://ncats.nih.gov/n3c/resources/data-contribution/data-transfer-agreement-signatories ) and scientists who have contributed to the ongoing development of this community resource ( https://doi.org/10.1093/jamia/ocaa196 ). The N3C data transfer to NCATS is performed under a Johns Hopkins University Reliance Protocol # IRB00249128 or individual site agreements with National Institutes of Health (NIH). The N3C Data Enclave is managed under the authority of the NCATS; information can be found at https://ncats.nih.gov/n3c/resources . The study was supported by funding from Neurofibromatosis Therapeutic Acceleration Program (NTAP). Publisher Copyright: {\textcopyright} 2022",
year = "2023",
month = feb,
doi = "10.1016/j.gim.2022.10.007",
language = "English (US)",
volume = "25",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "2",
}